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SUMMARY OBJECTIVE: Familial Mediterranean fever is the most common monogenic autoinflammatory disease. This study aimed to evaluate the relationship between sacroiliitis observed in familial Mediterranean fever and hematological inflammatory markers. METHODS: In this study, 168 familial Mediterranean fever patients were examined. A total of 61 familial Mediterranean fever patients who had sacroiliac magnetic resonance imaging due to waist and hip pain were included in the study. According to the magnetic resonance imaging findings, patients were divided into two groups: with and without sacroiliitis. The relationship between hematological inflammatory markers and sacroiliitis was investigated. RESULTS: The frequency of sacroiliitis was found to be 13.6% in all familial Mediterranean fever patients and 37.8% in patients with low back pain who underwent sacroiliac magnetic resonance imaging. Neutrophil count, neutrophil/lymphocyte ratio, monocyte/lymphocyte ratio, and systemic immune-inflammatory index were significantly higher in the sacroiliitis group than in the other group, and this difference was found to be statistically significant (p<0.05). As a result of the receiver operating characteristic analysis, it was observed that neutrophil/lymphocyte ratio, monocyte/lymphocyte ratio, and systemic immune-inflammatory index were very sensitive parameters in determining sacroiliitis in patients with familial Mediterranean fever. CONCLUSION: It was observed that the frequency of sacroiliitis was increased in familial Mediterranean fever patients. It is predicted that hematological inflammatory markers such as neutrophil/lymphocyte ratio, monocyte/lymphocyte ratio, and systemic immune-inflammatory index can be used in the diagnosis of sacroiliitis.
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ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0-15.6 years) and median age at diagnosis 6.9 years (0-21.9 years); 111 (73%) were children (0-9 years old), and 41 (27%) were adolescents and young adults (AYA) (10-21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.
RESUMO Objetivo: Avaliar as doenças autoinflamatórias (DAI) de acordo com sexo e idade no momento do diagnóstico e a resposta terapêutica em uma grande população. Métodos: Este é um estudo observacional transversal de um registro latino-americano que usou um sistema de dados coletados entre 2015 e 2018. Quaisquer achados alterados ao longo do acompanhamento foram registrados. Os formulários foram traduzidos para os idiomas português e espanhol, incluindo características demográficas, clínicas, laboratoriais, genéticas e de tratamento. Resultados: Incluímos 152 pacientes, sendo 51,3% do sexo masculino e 75% da raça branca. A média de idade de início da doença foi de 2,1 anos (0-15,6 anos) e a média de idade de diagnóstico 6,9 anos (0-21,9 anos); 111 (73%) eram crianças (0-9 anos) e 41 (27%) adolescentes/adultos jovens (10-21 anos). A síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA) ocorreu em 46/152 (30%), osteomielite não bacteriana crônica (CNO) em 32/152 (21%) e febre familiar do Mediterrâneo (FMF) em 24/152 (15,7%). A PFAPA foi significativamente maior em crianças pequenas (38,7 vs. 7,3%, p<0,001), e a CNO, em adolescentes/adultos jovens (13,5 vs. 41,5%, p<0,001). A frequência do sexo feminino foi significativamente maior na CNO (28,4 vs. 14,1%, p=0,031) e menor na FMF (8,1 vs. 23,1%, p=0,011). Os medicamentos mais utilizados foram glicocorticoides, anti-inflamatórios não esteroidais (AINE) e colchicina. O tratamento com glicocorticoides e colchicina foi usado em todas as DAI com resposta boa a moderada. No entanto, as síndromes periódicas associadas à criopirina (CAPS) pareciam não responder aos glicocorticoides. AINE e metotrexato foram os principais medicamentos utilizados no tratamento da CNO. Conclusões: Diferenças de pacientes com DAI foram observadas na população latino-americana em pacientes agrupados por sexo e idade ao diagnóstico da doença.
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ABSTRACT Purpose: In this study, we aimed to show whether a difference exists between retinal and choroidal microcirculation findings between patients with familial Mediterranean fever and healthy controls. Methods: Thirty-two patients with familial Mediterranean fever and 30 healthy controls were included in the study. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and intraocular pressure measurement. The AngioVue optical coherence tomography angiography device (Optovue, Fremont, CA) with split-spectrum amplitude-decorrelation angiography was used to evaluate and examine the retinal microvascular structure. Three-dimensional en face Optical coherence tomography angiography images were obtained by examining the macula using the 3 x 3 mm scanning protocol in the Angio Retina mode and the optic nerve using the 3 x 3 mm scanning protocol in the Angio Disk mode. All the patients' right eyes were examined. Results: A total of 62 subjects were included in the study, of whom 32 (53.3%) were female and 30 (46.7%) were male. No statistically significant difference was found between the two groups in terms of optic nerve head or radial peripapillary capillary vessel density. On examination, the superficial capillary plexuses were statistically similar between the two groups, but the deep capillary plexus vessel density in the parafovea, superior hemi, temporal, and superior areas were significantly lower in the patients with familial Mediterranean fever. Conclusions: We found that the capillary plexus vessel density was significantly lower in the parafovea, superior hemi, temporal, and superior regions in the patients with familial Mediterranean fever than in the control group. Therefore, OCTA, a noninvasive study, may be useful for understanding the systemic effects of familial Mediterranean fever.
RESUMO Objetivos: Este estudo teve como objetivo mostrar se há diferença entre os achados da microcirculação retiniana e coroidal entre pacientes com febre mediterrânica familiar e um grupo controle saudável. Métodos: Trinta e dois pacientes com febre mediterrânica familiar e 30 controles saudáveis foram incluídos neste estudo. Todos os pacientes foram submetidos a um exame oftalmológico completo, incluindo a acuidade visual melhor corrigida e medida da pressão intraocular. O aparelho AngioVue Optical coherence tomography angiography (Optovue, Fremont, CA) com angiografia de correlação de amplitude de espectro dividido foi utilizado para avaliar e examinar a estrutura microvascular da retina. As angiotomografias de coerência ópticas en face tridimensionais foram obtidas examinando o protocolo de varredura macular 3 x 3 mm (modo angio retina) e o nervo óptico com o protocolo de varredura 3 x 3 mm (modo angio-disco). Todos os olhos direitos dos pacientes foram examinados. Resultados: Foram incluídos neste estudo, 62 sujeitos, dos quais 32 (53,3%) eram do sexo feminino e 30 (46,7%) do sexo masculino. Não houve diferença estatisticamente significativa entre os dois grupos quanto à densidade dos vasos da cabeça do nervo óptico ou da densidade dos vasos capilares peripapilares radiais. Durante o exame, os plexos capilares superficiais foram estatisticamente semelhantes entre esses dois grupos, mas a densidade profunda dos vasos do plexo capilar nas areas parafovea, hemi superior, temporal e superior foram significativamente menores nos pacientes com febre mediterrânica familiar. Conclusões: Verificamos que a densidade dos vasos do plexo capilar foi significativamente menor nas regiões parafovea, hemi superior, temporal e superior em pacientes com febre mediterrânica familiar em comparação com o grupo controle. Portanto, pode ser útil usar a angiotomografia de coerência óptica, por tratar-se de um estudo não invasivo, para melhor compreensão dos efeitos sistêmicos da febre mediterrânica familiar.
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Abstract Background: The most important finding that affects the prognosis in Familial Mediterranean Fever is renal amyloidosis. The aim of the present study was to analyze neutrophil gelatinase-associated lipocalin levels in the urine, and to investigate whether it may be used as an early marker for renal involvement. Methods: Forty attack-free children followed by diagnosis of Familial Mediterranean Fever with age range of 5 and 18 years, and 38 healthy children with similar ages and genders were enrolled into the study. Hemogram, sedimentation, C-reactive protein, urine analysis, creatinine in the spot urine, microalbumin and urinary neutrophil gelatinase-associated lipocalin levels were analyzed and evaluated statistically in the patients and controls. Results: There was not any statistically significant difference between the patient and control groups for age, gender, height and body weight. Although there was not any clinical sign of attack in the patient group, sedimentation, C-reactive protein and fibrinogen levels were significantly higher than the control group (p = 0.002, p = 0.023, and p = 0.006, respectively). Similarly, urinary neutrophil gelatinase-associated lipocalin level and urinary creatinine ratio were significantly higher in the patient group (p = 0.0001, p = 0.011, respectively). We found a positive correlation between uNGAL level and uNGAL/uCr ratio and number of attacks per year in FMF patients (r =0.743, p =0.001 and r =0.516, p =0.001; respectively). Conclusions: Detection of significantly higher levels of urinary neutrophil gelatinase-associated lipocalin level and urinary neutrophil gelatinase-associated lipocalin level to creatinine ratio were suggested as urinary neutrophil gelatinase-associated lipocalin level as a non-invasive marker for renal involvement better than microalbumin.
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Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Febre Familiar do Mediterrâneo , Lipocalina-2 , Nefropatias , Febre Familiar do Mediterrâneo/diagnóstico , Prognóstico , Biomarcadores/urina , Projetos Piloto , Lipocalina-2/urina , Nefropatias/urinaRESUMO
Abstract Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis. Sacroiliitis can be observed in some FMF patients. This study aimed to compare the demographic, clinical, and laboratory findings, and treatment in children with FMF and sacroiliitis, and children with juvenile spondyloarthropathy (JSpA). Methods: In total, 1687 pediatric FMF patients that were followed-up between May 2010 and June 2020 were evaluated retrospectively. Among them, those with sacroiliitis ( n = 63) were included in the study and compared to patients with JSpA ( n = 102). Results: The study included 63 FMF patients with sacroiliitis (38 males [60.3%] and 25 females [39.7%]) with a mean age of 15.2 ± 4.1 years. Mean age at symptom onset was 7.2 ± 5.05 years and mean age at diagnosis was 9.74 ± 4.67 years. The most common mutation in the FMF patients was M694V/M694V ( n = 22). Patients were diagnosed with sacroiliitis with a mean of 12 months (range: 6-36 months) after the diagnosis of FMF. Among the FMF patients, 28 (44.4%) had enthesitis, 23 (36.5%) had heel pain, and 11 (17.4%) had low back pain. The study also included 102 JSpA patients (90 males [88.2%] and 12 females [11.8%]). Mean age of patients with JSpA was 16.1 ± 2.8 years. As compared to 102 JSpA patients, patients with FMF and sacroiliitis had higher acute phase reactants, whereas HLA- B27 positivity rate was lower. In addition, axial involvement rate was higher in the JSpA patients. Conclusion: Sacroiliitis is a common co-morbidity in FMF patients. The phenotypic features of these patients are different from patients with JSpA.
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ABSTRACT Objective: To evaluate the clinical implications of E148Q mutation in familial Mediterranean fever (FMF) patients and compare it with other FMF-causing mutations. Methods: The clinical features of 137 FMF patients with E148Q have been evaluated. Moreover, the clinical features of those patients have been compared with the clinical symptoms of FMF patients with other mutations. Results: The clinical features of FMF in the patients with E148Q in this study are not different from those we previously reported in FMF patients with different MEFV mutations. However, there is a clear difference in terms of severity between the E148Q patients and those with other mutations. The data from this study show that E148Q causes mild symptoms of FMF, while other MEFV mutations are associated with the severe form of FMF. There were no significant statistical differences between patients with homozygote E148Q mutation, compound heterozygote or heterozygote. Conclusion: This study showed that E148Q variant is associated with FMF. Patients who are heterozygous or homozygous for E148Q should not be ignored and should be followed up and treated liked other FMF patients. The main aim of this study was to evaluate the clinical implications of E148Q mutation in FMF patients and compare it with other FMF-causing mutations.
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ABSTRACT Objective Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Subjects and methods The study was conducted by the Endocrinology and Metabolism and Internal Medicine Departments. Thirty FMF patients and 30 age and gender-matched healthy controls were enrolled in the study. Free thyroxin (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), and anti-thyroid peroxidase (anti-TPO) autoantibodies were investigated. Detailed thyroid grayscale and Doppler Ultrasonography examinations and shear-wave elastosonography (SWE) were performed in the patient and control groups. Results Anti-TPO was detected in 24% (n = 7) of the patients. On the grayscale US, mean thyroid volumes were similar between the FMF and the control groups (p > 0.05). By Doppler US, thyroid vascularity observed was detected in 10.3% (n = 3) of the patients. SWE revealed that the mean velocity value of right vs. left lobe in the patient group was 1.77 ± 0.45 m/s and 1.95 ± 0.51 m/s, respectively. Compared to the control group, the mean velocity values were significantly higher in the right (p = 0.004) and left (p = 0.01) lobes of the patient group. The mean stiffness value in the patient group was also significantly higher in the right and left lobes [10.13 ± 5.65 kPa (p = 0.005) and 12.24 ± 6.17 kPa (p = 0.02), respectively]. Conclusion Recognizing the complications of FMF early in the course of the disease is as important as the early diagnosis of the disorder. Based on this, thyroid functions and changes in its structure should be evaluated carefully for early diagnosis of a possible coexisting thyroid disorder. Arch Endocrinol Metab. 2020;64(1):66-70
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Humanos , Masculino , Feminino , Adulto , Febre Familiar do Mediterrâneo/fisiopatologia , Febre Familiar do Mediterrâneo/imunologia , Autoanticorpos/imunologia , Autoimunidade/imunologia , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Autoanticorpos/sangue , Glândula Tireoide/imunologia , Tri-Iodotironina/imunologia , Tri-Iodotironina/sangue , Tireotropina/imunologia , Tireotropina/sangue , Estudos de Casos e Controles , Ultrassonografia Doppler , Iodeto Peroxidase/imunologia , Iodeto Peroxidase/sangueRESUMO
Abstract İntroduction: Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease characterized by recurrent fever and serosal inflammation. Anti-interleukin-1 (Anti-IL-1) treatments are recommended in colchicine resistant and/or intolerant FMF patients. This study aims to evaluate the efficacy of anakinra and canakinumab in FMF patients that are resistant/intolareted to colchicine or complicated with amyloidosis. Methods: Between January 2014 and March 2019, 65 patients following-up at Sivas Cumhuriyet University (Medical Faculty Rheumatology-Internal Medicine Department) who were diagnosed with FMF according to the criteria of Tel-Hashomer were included in the study. The laboratory values and clinical features of patients and disease activities were recorded at least every 3 months, and these data were analyzed. Results: Forty-one (63.1%) patients used anakinra (100 mg/day) and 24 (36.9%) patients used canakinumab (150 mg/8 week). The median duration of anti-IL-1 agents use was 7 months (range, 3-30). Fifteen (23.1%) cases were complicated with amyloidosis. Seven (10.8%) patients had renal transplantation. Overall, the FMF 50 score response was 96.9%. In the group that had a glomerular filtration rate (GFR) ≥ 60 ml/min/m2, the median proteinuria decreased from 2390 mg/day (range, 1400-7200) to 890 mg/day (range, 120-2750) (p = 0.008). No serious infections were detected, except in one patient. Conclusions: Anti-IL-1 agents are effective and safe in the treatment of FMF patients. These agents are particularly effective at reducing proteinuria in patients with GFR ≥ 60 ml/min/m2, but less effective in cases with FMF associated with arthritis and sacroiliitis. Large and long follow-up studies are now needed to establish the long-term effects of these treatments.
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Humanos , Febre Familiar do Mediterrâneo/tratamento farmacológico , Colchicina/efeitos adversos , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Amiloidose , Resistência a MedicamentosRESUMO
ABSTRACT BACKGROUND: Up to 5% of familial Mediterranean fever (FMF) cases are unresponsive to colchicine, through resistance, side effects and toxicity. Anakinra is an alternative treatment for FMF patients whose disease remains uncontrolled with colchicine. We aimed to evaluate anti-interleukin-1 treatment regarding clinical findings, laboratory parameters and quality of life (QoL) among FMF patients presenting resistance and toxicity towards colchicine. DESIGN AND SETTING: Descriptive observational study at the rheumatology clinic, Adnan Menderes University Medical School, Aydın, Turkey. METHODS: Among the patients included, age, sex, MEFV genotypes, acute-phase reactants, hepatic/renal function tests, average colchicine dose, disease duration, attack frequency, attack duration, disease severity, proteinuria, amyloidosis and QoL were evaluated. Colchicine resistance was defined as > 6 typical episodes/year or > 3 per 4-6 months. Kolmogorov-Smirnov, Friedman and two-way analysis of variance tests were used for statistical analyses. RESULTS: Between 2015 and 2017, 14 FMF patients receiving anakinra were enrolled. The mean colchicine dose was 1.7 ± 0.3 mg/day before use of anakinra. Ten patients were attack-free after treatment, while three showed reductions of at least 50% in attack frequency, attack duration and disease severity. Proteinuria levels in all patients with renal amyloidosis decreased after treatment. QoL among patients with renal amyloidosis differed significantly from QoL among non-amyloidosis patients. Mean visual analogue scale scores significantly improved in both groups after use of anakinra. CONCLUSIONS: Use of anakinra reduced attack frequency and proteinuria and acute-phase reactant levels, and improved QoL, with only a few uncomplicated side effects among colchicine-resistant or intolerant FMF patients. Injection-site reactions of severity insufficient to require discontinuation of treatment were seen.
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Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Febre Familiar do Mediterrâneo/tratamento farmacológico , Qualidade de Vida , Resistência a Medicamentos/efeitos dos fármacos , Colchicina/uso terapêutico , Interleucina-1/antagonistas & inibidores , Antirreumáticos/uso terapêutico , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Febre Familiar do Mediterrâneo/fisiopatologia , Proteinúria/urina , Valores de Referência , Fatores de Tempo , Turquia , Índice de Gravidade de Doença , Sedimentação Sanguínea , Reprodutibilidade dos Testes , Estudos Retrospectivos , Análise de Variância , Resultado do Tratamento , Estatísticas não Paramétricas , Escala Visual Analógica , Amiloidose/fisiopatologia , Amiloidose/tratamento farmacológico , Nefropatias/fisiopatologia , Nefropatias/tratamento farmacológicoRESUMO
Familial Mediterranean Fever is a hereditary inflammatory disease of predominantly autosomal recessive inheritance, produced by mutations in the MEFV gene that is found on the short arm of chromosome 16, characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis or erysipelaslike erythema. An episode lasts from one to three days, and its frequency is very variable. This disease is more frequent among Mediterranean populations, Jews from North Africa (not Ashkenazi), Armenians, Turks and Arabs. However, in recent years more cases have been reported in countries not related to this area. There are no formal studies of epidemiology in Chile. We present the case of one patient of Egyptian/ Jewish ancestry, and the case of a family of German/Spanish ancestry, all Chileans with semiology and characteristic evolution of familial Mediterranean fever and heterozygous positive molecular study. The absence of diagnosis in non-Mediterranean countries may be due to the lack of awareness of this disease. In Chile there has been a rise in cases given by migrants and their offspring, so it is very important to keep in mind as possible diagnosis in case of pain and fever of unknown origin. On the other hand, the familial Mediterranean fever is mainly of autosomal recessive inheritance, but dominant variants have been described. Both cases described in this work present the variant in which the disease manifests itself in its heterozygous form, generating an autosomal dominant inheritance, which would increase the number of affected individuals in the population.
La fiebre mediterránea familiar es un trastorno auto inflamatorio hereditario de herencia predominantemente autosómica recesiva, producida por mutaciones en el gen MEFV que se encuentra en el brazo corto del cromosoma 16, y que se caracteriza por episodios recurrentes de fiebre acompañada de peritonitis, pleuritis, artritis o eritema tipo erisipela. Un episodio dura entre uno y tres días, y su frecuencia es muy variable. Esta enfermedad es más frecuente entre las poblaciones mediterráneas, judíos del norte de África (no ashkenazíes), armenios, turcos y árabes. Sin embargo, en los últimos años se han reportado más casos en países no relacionados con esta área. No hay estudios epidemiológicos formales en Chile. Presentamos el caso de una paciente de ascendencia egipcia/judía, y el caso de una familia de ascendencia alemana/española, todos chilenos con semiología y evolución característica de fiebre mediterránea familiar y estudio molecular positivo heterocigoto. La falta de diagnóstico en países no mediterráneos puede deberse a la falta de conocimiento de esta enfermedad. En Chile han aumentado los casos dado el aumento de migrantes y sus descendientes, por lo que es importante tener este diagnóstico como posibilidad en caso de dolor y fiebre de origen desconocido. Por otro lado, la fiebre mediterránea familiar es principalmente de herencia autosómica recesiva, pero se han descrito variantes dominantes. Los dos casos descritos en este trabajo presentan la variante en la que la enfermedad se manifiesta en su forma heterocigota, generando una herencia autosómica dominante, lo que aumentaría el número de individuos afectados en la población.
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Humanos , Masculino , Feminino , Criança , Adolescente , Pessoa de Meia-Idade , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/tratamento farmacológico , Migrantes , Colchicina/uso terapêutico , Predisposição Genética para Doença , Pirina/genética , HeterozigotoRESUMO
El objetivo de este estudio fue evaluar a los pacientes con fiebre mediterránea familiar (familial Mediterranean fever, FMF) y dolor abdominal crónico resistentes al tratamiento con colchicina. Se incluyó a 48 pacientes diagnosticados en nuestro consultorio de reumatología pediátrica que tenían dolor abdominal a pesar del tratamiento con colchicina. A todos los pacientes se los derivó a un gastroenterólogo pediátrico. Se registraron las características del dolor, tales como aparición, duración y frecuencia; se planificó una endoscopía digestiva para obtener un diagnóstico diferencial. Se determinó la presencia de una mutación del gen MEFV en 46 pacientes. La mediana de la duración del tratamiento fue de 2,8 años. Aproximadamente el 60% de los pacientes tenían dolor abdominal todos los días o de dos a tres veces a la semana; en el 73% de los casos, duró menos de tres horas. A 41 pacientes se les realizó una endoscopía digestiva alta. La gastroduodenitis es un hallazgo frecuente en los pacientes con FMF y dolor abdominal persistente a pesar del tratamiento. Los pacientes con los puntajes más altos de severidad de la enfermedad tenían inflamación digestiva grave.
The aim of the study to evaluate familial mediterranean fever (FMF) patients with chronic abdominal pain unresponsive to colchicine treatment. Forty-eight patients who diagnosed in our Pediatric Rheumatology clinics and suffering from abdominal pain despite colchicine treatment were include. All patients were referred to a pediatric gastroenterologist. The pain characteristics such as onset, duration and frequency were recorded; gastrointestinal (GI) endoscopy was planned for differential diagnosis. MEFV mutation was determined in 46 patients. The median duration of treatment was 2.8 years. Approximately 60% of the patients suffered from abdominal pain every day or 2-3 times a week, in 73% of the cases it lasted less than three hours. Forty-one patients underwent upper GI endoscopy. Gastroduodenitis is a common finding in persisting abdominal pain despite therapy of FMF patients. The patients with the highest disease severity scores had severe inflammation within the entire GI system.
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Humanos , Criança , Adolescente , Febre Familiar do Mediterrâneo/complicações , Dor Abdominal/epidemiologia , Colchicina/administração & dosagem , Dor Crônica/etiologia , Febre Familiar do Mediterrâneo/tratamento farmacológico , Dor Abdominal/etiologia , Endoscopia Gastrointestinal/métodos , Duodenite/diagnóstico , Duodenite/etiologia , Dor Crônica/epidemiologia , Gastrite/diagnóstico , Gastrite/etiologiaRESUMO
Objetivo. Determinar la frecuencia de mutaciones del gen MEFV en niños con diagnóstico de púrpura de Schonlein-Henoch y evaluar el efecto que tienen en el pronóstico. Materiales y métodos. Estudio transversal que incluyeron pacientes pediátricos de entre 2 y 11 años, con diagnóstico de púrpura de Schonlein-Henoch. Se estudiaron para detectar 6 mutaciones en el gen MEFV (M694V, M680I, A744S, R202Q, K695R y E148Q). Resultados. Se incluyeron ochenta pacientes, de los cuales el 55% eran de sexo masculino (n= 44). La media de edad fue 6,44 ± 2,52 años. Durante el seguimiento, 9 pacientes presentaron recurrencia de la enfermedad, 5 sufrieron invaginación intestinal y 1 paciente tuvo convulsiones. Aproximadamente la mitad de los pacientes recibió corticoides. En 44 pacientes (55%) no se detectaron mutaciones en el gen MEFV. En 19 pacientes (22%) hubo una mutación heterocigota. Se encontró E148Q en 8 pacientes, M694V en 5 pacientes, A744S en 4 pacientes y la mutación heterocigota R202Q en 2 pacientes. En 1 paciente se detectó la mutación heterocigota M608I y en otro paciente se encontró la mutación homocigota M694V. En 15 pacientes se encontraron mutaciones heterocigotas compuestas en el gen MEFV. Las mutaciones en el gen MEFV no se correlacionaban con la frecuencia de compromiso renal y gastrointestinal ni con el pronóstico, desarrollo de complicaciones y uso de corticoides. Conclusiones. Las mutaciones en el gen MEFV no se correlacionan con la evolución clínica ni con las complicaciones en pacientes pediátricos con púrpura de Schonlein-Henoch en Turquía.
Objective. To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. These cases were investigated for 6 MEFV gene mutations (M694V, M680I, A744S, R202Q, K695R, E148Q). Results. Eighty cases were included in the study of which 55% were male (n= 44). The mean age was 6.44 ± 2.52 years. Disease recurrence occurred in 9 patients, invagination in 5 patients and convulsion in 1 patient during follow-up. Approximately half of the patients received steroids. The MEFV gene mutations was not detected in 44 (55%) of the patients. There was a heterozygous mutation in 19 (22%). E148Q was found in 8 patients, M694V in 5 patients, A744S in 4 patients, and the R202Q heterozygous mutation in 2 patients. The M608I homozygous mutation was detected in 1 patient and the M694V homozygous mutation in 1 patient. The compound heterozygous MEFV gene mutations was found in 15 patients. The presence of the MEFV gene mutations was not correlated with the frequency of renal and gastrointestinal involvement and prognosis, the development of complications and the use of steroids. Conclusion. The presence of the MEFV gene mutations does not correlate with the clinical course and complication in Turkish pediatric patients with HSP.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Vasculite por IgA/fisiopatologia , Corticosteroides/administração & dosagem , Pirina/genética , Prognóstico , Vasculite por IgA/genética , Vasculite por IgA/tratamento farmacológico , Recidiva , Turquia , Estudos Transversais , Seguimentos , Heterozigoto , MutaçãoRESUMO
ABSTRACT BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.
RESUMO CONTEXTO: A febre familiar do Mediterrâneo e a doença celíaca compartilham algumas características clínicas comuns, tais como dor abdominal, diarreia, artralgia e artrite. Além disso, ambas as doenças são associadas a muitas doenças auto-imunes e inflamatórias. Estudos anteriores mostraram associação entre febre familiar do Mediterrâneo e diferentes condições clínicas. OBJETIVO: Investigar a relação entre doença celíaca e doença de febre familiar do Mediterrâneo colchicina-resistente (FMFcr). MÉTODOS: Foi realizado um estudo prospectivo no departamento de Gastroenterologia pediátrica e Reumatologia pediátrica de outubro de 2015 até agosto de 2016. Um total de 24 pacientes com FMFcr foram incluídos. Sessenta indivíduos saudáveis combinados por sexo e idade foram utilizados como um grupo de controle. Os níveis de IgA total e transglutaminase tissular (tTG) anticorpo IgA foram medidos em ambos os grupos. Aqueles com maior nível de tTG IgA foram testados para anticorpos de IgA antiendomísio (EMA). Gastroduodenoscopia e biópsia intestinal foram planejadas para um diagnóstico definitivo da doença celíaca em pacientes com EMA positivo. RESULTADOS: Dos 24 pacientes neste estudo, 18 (75,0%) eram do sexo feminino. Somente 4 (16,6%) de 24 pacientes foram positivos para tTG IgA. Pacientes com tTG IgA positivo então foram testados para anticorpos IgA de EMA, e nenhum deles teve um resultado positivo. Somente um (1,6%) indivíduo do grupo controle foi positivo para tTG IgA, mas a positividade EMA não foi detectada. CONCLUSÃO: Não encontramos a doença celíaca em 24 crianças com FMFcr. Desde que a doença FMFcr é raramente vista na população em geral, estudos com mais pacientes são necessários para fornecer interpretação mais precisa.
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Febre Familiar do Mediterrâneo/tratamento farmacológico , Doença Celíaca/sangue , Colchicina/uso terapêutico , Programas de Rastreamento , Febre Familiar do Mediterrâneo/complicações , Resistência a Medicamentos , Estudos de Casos e Controles , Doença Celíaca/genética , Estudos Transversais , Estudos Prospectivos , MutaçãoRESUMO
OBJECTIVE: To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. These cases were investigated for 6 MEFV gene mutations (M694V, M680I, A744S, R202Q, K695R, E148Q). RESULTS: Eighty cases were included in the study of which 55% were male (n= 44). The mean age was 6.44 ± 2.52 years. Disease recurrence occurred in 9 patients, invagination in 5 patients and convulsion in 1 patient during follow-up. Approximately half of the patients received steroids. The MEFV gene mutations was not detected in 44 (55%) of the patients. There was a heterozygous mutation in 19 (22%). E148Q was found in 8 patients, M694V in 5 patients, A744S in 4 patients, and the R202Q heterozygous mutation in 2 patients. The M608I homozygous mutation was detected in 1 patient and the M694V homozygous mutation in 1 patient. The compound heterozygous MEFV gene mutations was found in 15 patients. The presence of the MEFV gene mutations was not correlated with the frequency of renal and gastrointestinal involvement and prognosis, the development of complications and the use of steroids. CONCLUSION: The presence of the MEFV gene mutations does not correlate with the clinical course and complication in Turkish pediatric patients with HSP.
Objetivo. Determinar la frecuencia de mutaciones del gen MEFV en niños con diagnóstico de púrpura de Schönlein-Henoch y evaluar el efecto que tienen en el pronóstico. Materiales y métodos. Estudio transversal que incluyeron pacientes pediátricos de entre 2 y 11 años, con diagnóstico de púrpura de Schönlein-Henoch. Se estudiaron para detectar 6 mutaciones en el gen MEFV (M694V, M680I, A744S, R202Q, K695R y E148Q). Resultados. Se incluyeron ochenta pacientes, de los cuales el 55% eran de sexo masculino (n= 44). La media de edad fue 6,44 ± 2,52 años. Durante el seguimiento, 9 pacientes presentaron recurrencia de la enfermedad, 5 sufrieron invaginación intestinal y 1 paciente tuvo convulsiones. Aproximadamente la mitad de los pacientes recibió corticoides. En 44 pacientes (55%) no se detectaron mutaciones en el gen MEFV. En 19 pacientes (22%) hubo una mutación heterocigota. Se encontró E148Q en 8 pacientes, M694V en 5 pacientes, A744S en 4 pacientes y la mutación heterocigota R202Q en 2 pacientes. En 1 paciente se detectó la mutación heterocigota M608I y en otro paciente se encontró la mutación homocigota M694V. En 15 pacientes se encontraron mutaciones heterocigotas compuestas en el gen MEFV. Las mutaciones en el gen MEFV no se correlacionaban con la frecuencia de compromiso renal y gastrointestinal ni con el pronóstico, desarrollo de complicaciones y uso de corticoides. Conclusiones. Las mutaciones en el gen MEFV no se correlacionan con la evolución clínica ni con las complicaciones en pacientes pediátricos con púrpura de Schönlein-Henoch en Turquía.
Assuntos
Corticosteroides/administração & dosagem , Vasculite por IgA/fisiopatologia , Pirina/genética , Criança , Pré-Escolar , Feminino , Seguimentos , Heterozigoto , Humanos , Vasculite por IgA/tratamento farmacológico , Vasculite por IgA/genética , Masculino , Mutação , Prognóstico , Recidiva , TurquiaRESUMO
We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
Assuntos
Adenoidectomia , Febre Familiar do Mediterrâneo/diagnóstico , Linfadenite/diagnóstico , Faringite/diagnóstico , Pirina/genética , Estomatite Aftosa/diagnóstico , Tonsilectomia , Criança , Pré-Escolar , Diagnóstico Diferencial , Doenças Endêmicas , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/genética , Feminino , Marcadores Genéticos , Heterozigoto , Humanos , Lactente , Linfadenite/complicações , Linfadenite/epidemiologia , Linfadenite/cirurgia , Masculino , Mutação , Faringite/complicações , Faringite/epidemiologia , Faringite/cirurgia , Estudos Retrospectivos , Estomatite Aftosa/complicações , Estomatite Aftosa/epidemiologia , Estomatite Aftosa/cirurgia , Síndrome , Resultado do Tratamento , Turquia/epidemiologiaRESUMO
Abstract Aim Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure and death. We studied clinical characteristics and survival in patients with amyloid A amyloidosis. Methods: A total of 81 patients (51 males, 30 females) with renal biopsy proven amyloid A amyloidosis were analyzed retrospectively. The patients were divided into good and poor outcomes groups according to survival results. Results: Most of the patients (55.6%) had nephrotic range proteinuria at diagnosis. Most frequent underlying disorders were familial Mediterranean fever (21.2%) and rheumatoid arthritis (10.6%) in the good outcome group and malignancy (20%) in the poor outcome group. Only diastolic blood pressure in the good outcome group and phosphorus level in the poor outcome group was higher. Serum creatinine levels increased after treatment in both groups, while proteinuria in the good outcome group decreased. Increase in serum creatinine and decrease in estimated glomerular filtration rate of the poor outcome group were more significant in the good outcome group. At the time of diagnosis 18.5% and 27.2% of all patients had advanced chronic kidney disease (stage 4 and 5, respectively). Median duration of renal survival was 65 ± 3.54 months. Among all patients, 27.1% were started dialysis treatment during the follow-up period and 7.4% of all patients underwent kidney transplantation. Higher levels of systolic blood pressure [hazard ratios 1.03, 95% confidence interval: 1-1.06, p = 0.036], serum creatinine (hazard ratios 1.25, 95% confidence interval: 1.07-1.46, p = 0.006) and urinary protein excretion (hazard ratios 1.08, 95% confidence interval: 1.01-1.16, p = 0.027) were predictors of end-stage renal disease. Median survival of patients with organ involvement was 50.3 ± 16 months. Conclusion Our study indicated that familial Mediterranean fever constituted a large proportion of cases and increased number of patients with idiopathic amyloid A amyloidosis. Additionally, it was observed that patient survival was not affected by different etiological causes in amyloid A amyloidosis.
Resumo Objetivo: A amiloidose AA é uma complicação rara de condições inflamatórias crônicas. A maior parte dos pacientes com amiloidose AA apresenta nefropatia, que leva à insuficiência renal e à morte. Estudaram-se as características clínicas e a sobrevida em pacientes com amiloidose AA. Métodos: Analisaram-se retrospectivamente 81 pacientes (51 homens, 30 mulheres) com amiloidose AA comprovada por biópsia renal. Os pacientes foram divididos em grupos de desfecho bom e ruim de acordo com os resultados de sobrevida. Resultados: A maior parte dos pacientes (55,6%) tinha proteinúria na faixa nefrótica no momento do diagnóstico. Os distúrbios subjacentes mais frequentes foram a febre familiar do Mediterrâneo (FFM, 21,2%) e a artrite reumatoide (10,6%) no grupo de desfecho bom e a malignidade (20%) no grupo de desfecho ruim. Somente a pressão arterial diastólica no grupo de desfecho bom e o nível de fósforo no grupo de desfecho ruim foram mais elevados. Os níveis séricos de creatinina aumentaram após o tratamento em ambos os grupos, enquanto a proteinúria diminuiu no grupo de desfecho bom. O aumento na creatinina sérica e a diminuição na TFGe do grupo de desfecho ruim foram mais significativos no grupo de desfecho bom. No momento do diagnóstico, 18,5% e 27,2% de todos os pacientes tinham doença renal crônica avançada (estágios 4 e 5, respectivamente). A duração média da sobrevida renal foi de 65 ± 3,54 meses. Entre todos os pacientes, 27,1% iniciaram tratamento de diálise durante o período de seguimento e 7,4% de todos os pacientes foram submetidos a transplante renal. Níveis elevados de pressão arterial sistólica [taxas de risco (HR) 1,03, intervalo de confiança (IC) de 95%: 1 a 1,06, p = 0,036], creatinina sérica (HR 1,25, IC 95%: 1,07 a 1,46, p = 0,006) e excreção urinária de proteínas (HR 1,08, IC 95%: 1,01 a 1,16, p = 0,027) foram preditores de doença renal terminal. A mediana da sobrevida de pacientes com comprometimento de órgãos foi de 50,3 ± 16 meses. Conclusão: O presente estudo indicou que a FFM constituiu uma grande proporção de casos e crescente quantidade de pacientes com amiloidose AA idiopática. Adicionalmente, observou-se que a sobrevida do paciente não foi afetada pelas diferentes causas etiológicas na amiloidose AA.
Assuntos
Humanos , Masculino , Feminino , Adulto , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Febre Familiar do Mediterrâneo/mortalidade , Insuficiência Renal Crônica/mortalidade , Amiloidose/mortalidade , Febre Familiar do Mediterrâneo/complicações , Proteinúria/urina , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Diálise Renal/estatística & dados numéricos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Creatinina/sangue , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/terapia , Estimativa de Kaplan-Meier , Amiloidose/complicações , Amiloidose/fisiopatologia , Pessoa de Meia-IdadeRESUMO
Abstract Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. Methods: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. Results: As a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p < 0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p > 0.05). Conclusions: To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.
Resumo Objetivo: Identificaram-se mutações no gene da febre mediterrânica (MEFV) relatadas como responsáveis pela febre mediterrânica familiar (FMF). Este estudo teve como objetivo determinar a frequência de mutações no MEFV na região sul do mar de Mármara e investigar o impacto dos polimorfismos genéticos G138G (rs224224, c.414A > G) e A165A (rs224223, c.495C > A) nos achados clínicos da doença. Métodos: Foram incluídos neste estudo 116 pacientes com diagnóstico de FMF e 95 indivíduos no grupo controle. Usou-se o método de análise da sequência de DNA para identificar as 10 mutações mais prevalentes localizadas nos éxons 2 e 10 do gene MEFV. Resultados: Como resultado da análise da mutação MEFV, a mutação mais comum foi a mutação alélica M694 V, com uma taxa de frequência de 41,8%. Quando os grupos de pacientes e controles foram comparados em termos de frequência de ambos os alelos polimórficos (alelo polimórfico G, observado no G138G e o alelo polimórfico A, observado no A165A), a variação observada foi estatisticamente significativa (p < 0,001). Verificou-se que os tipos de mutação no MEFV não tinham relação com os achados clínicos nem com a amiloidose (p > 0,05). Conclusões: Que se tem conhecimento, este estudo é o primeiro feito na região sul do mar de Mármara que relata a frequência de mutações no MEFV. Os achados indicam que os polimorfismos G138G e A165A podem ter um impacto sobre o progresso da doença. Acredita-se que são necessários mais estudos que abranjam um maior número de casos e investiguem os polimorfismos do gene MEFV.
Assuntos
Humanos , Adulto , Idoso , Adulto Jovem , Febre Familiar do Mediterrâneo/genética , Pirina/sangue , Mutação , Febre Familiar do Mediterrâneo/sangue , Polimorfismo Genético , Turquia , Estudos de Casos e Controles , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Alelos , Frequência do Gene , Pessoa de Meia-IdadeRESUMO
AIM: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. METHODS: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. RESULTS: As a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p<0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p>0.05). CONCLUSIONS: To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.
Assuntos
Febre Familiar do Mediterrâneo/genética , Mutação , Pirina/sangue , Adulto , Idoso , Alelos , Estudos de Casos e Controles , Febre Familiar do Mediterrâneo/sangue , Frequência do Gene , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo Genético , Estudos Retrospectivos , Turquia , Adulto JovemRESUMO
AIM: Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure and death. We studied clinical characteristics and survival in patients with amyloid A amyloidosis. METHODS: A total of 81 patients (51 males, 30 females) with renal biopsy proven amyloid A amyloidosis were analyzed retrospectively. The patients were divided into good and poor outcomes groups according to survival results. RESULTS: Most of the patients (55.6%) had nephrotic range proteinuria at diagnosis. Most frequent underlying disorders were familial Mediterranean fever (21.2%) and rheumatoid arthritis (10.6%) in the good outcome group and malignancy (20%) in the poor outcome group. Only diastolic blood pressure in the good outcome group and phosphorus level in the poor outcome group was higher. Serum creatinine levels increased after treatment in both groups, while proteinuria in the good outcome group decreased. Increase in serum creatinine and decrease in estimated glomerular filtration rate of the poor outcome group were more significant in the good outcome group. At the time of diagnosis 18.5% and 27.2% of all patients had advanced chronic kidney disease (stage 4 and 5, respectively). Median duration of renal survival was 65±3.54 months. Among all patients, 27.1% were started dialysis treatment during the follow-up period and 7.4% of all patients underwent kidney transplantation. Higher levels of systolic blood pressure [hazard ratios 1.03, 95% confidence interval: 1-1.06, p=0.036], serum creatinine (hazard ratios 1.25, 95% confidence interval: 1.07-1.46, p=0.006) and urinary protein excretion (hazard ratios 1.08, 95% confidence interval: 1.01-1.16, p=0.027) were predictors of end-stage renal disease. Median survival of patients with organ involvement was 50.3±16 months. CONCLUSION: Our study indicated that familial Mediterranean fever constituted a large proportion of cases and increased number of patients with idiopathic amyloid A amyloidosis. Additionally, it was observed that patient survival was not affected by different etiological causes in amyloid A amyloidosis.
Assuntos
Amiloidose/mortalidade , Febre Familiar do Mediterrâneo/mortalidade , Insuficiência Renal Crônica/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Amiloidose/complicações , Amiloidose/fisiopatologia , Creatinina/sangue , Febre Familiar do Mediterrâneo/complicações , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Modelos de Riscos Proporcionais , Proteinúria/urina , Diálise Renal/estatística & dados numéricos , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/terapia , Estudos Retrospectivos , Adulto JovemRESUMO
As doenças autoinflamatórias são doenças inflamatórias raras cujo cerne imunológico baseia-se na imunidade inata. A maioria das doenças autoinflamatórias tem início na idade pediátrica, mas pouco se sabe sobre as doenças que se iniciam na vida adulta. O diagnóstico é feito por exclusão, e, quando possível, com auxílio de técnicas moleculares. Este artigo tem como objetivo relatar um caso de doença autoinflamatória de início na vida adulta e a partir dele estabelecer fluxograma de auxílio ao diagnóstico.
Autoinflammatory diseases are rare inflammatory conditions whose immunopathology relies essentially on innate immunity. The majority of autoinflammatory diseases have their onset in childhood, but little is known about diseases that initiate in adulthood. Diagnosis is made by exclusion and with the aid of molecular techniques whenever possible. This article describes a case of autoinflammatory disease that started in adulthood, and aims to propose a flowchart to aid in the diagnosis of these conditions.