RESUMO
ABSTRACT Chronic kidney disease (CKD) represents one of today's main public health problems. Serum creatinine measurement and estimation of the glomerular filtration rate (GFR) are the main tools for evaluating renal function. There are several equations to estimate GFR, and CKD-EPI equation (Chronic Kidney Disease - Epidemiology) is the most recommended one. There are still some controversies regarding serum creatinine measurement and GFR estimation, since several factors can interfere in this process. An important recent change was the removal of the correction for race from the equations for estimating GFR, which overestimated kidney function, and consequently delayed the implementation of treatments such as dialysis and kidney transplantation. In this consensus document from the Brazilian Societies of Nephrology and Clinical Pathology and Laboratory Medicine, the main concepts related to the assessment of renal function are reviewed, as well as possible existing controversies and recommendations for estimating GFR in clinical practice.
RESUMO A doença renal crônica (DRC) representa um dos principais problemas de saúde pública da atualidade. A dosagem da creatinina sérica e a estimativa da taxa de filtração glomerular (TFG) são as principais ferramentas para avaliação da função renal. Para a estimativa da TFG, existem diversas equações, sendo a mais recomendada a CKD-EPI (Chronic Kidney Disease - Epidemiology). Existem ainda algumas controvérsias com relação à dosagem da creatinina sérica e da estimativa da TFG, uma vez que vários fatores podem interferir nesse processo. Uma importante mudança recente foi a retirada da correção por raça das equações para estimativa da TFG, que superestimavam a função renal, e consequentemente retardavam a implementação de tratamentos como diálise e transplante renal. Neste documento de consenso da Sociedade Brasileira de Nefrologia e Sociedade Brasileira de Patologia Clínica e Medicina Laboratorial são revisados os principais conceitos relacionados à avaliação da função renal, possíveis controvérsias existentes e recomendações para a estimativa da TFG na prática clínica.
RESUMO
Background: Over the last 3 decades, over 700 million individuals worldwide have been diagnosed with chronic kidney disease (CKD). In a 2017 survey in southern Brazil, 11.4% of those surveyed had CKD. Early identification and effective therapy in Brazil may reduce CKD's impact. This panel discusses the early diagnosis and treatment of CKD and the barriers and actions needed to improve the management of CKD in Brazil. A panel of Brazilian nephrologists was provided with relevant questions to address before a multiday conference. During this meeting, each narrative was discussed and edited through several rounds until agreement on the relevant topics and recommendations was achieved. Summary: Panelists highlighted hurdles to early diagnosis and treatment of CKD. These include, but are not limited to, a lack of public and patient education, updated recommendations, multidisciplinary CKD treatment, and a national CKD database. People-centered, physician-centered, and healthcare institution-centered actions can be taken to improve outcomes. Patient empowerment is needed via multiple channels of CKD education and access to health-monitoring wearables and apps. Primary care clinicians and nonspecialists must be trained to screen and manage CKD-causing illnesses, including diabetes and hypertension. The healthcare system may implement a national health data gathering system, more screening tests, automated test result reporting, and telehealth. Key Messages: Increasing access to early diagnosis can provide a path to improving care for patients with CKD. Concerted efforts from all stakeholders are needed to overcome the barriers.
RESUMO
Chronic kidney disease (CKD) represents one of today's main public health problems. Serum creatinine measurement and estimation of the glomerular filtration rate (GFR) are the main tools for evaluating renal function. There are several equations to estimate GFR, and CKD-EPI equation (Chronic Kidney Disease - Epidemiology) is the most recommended one. There are still some controversies regarding serum creatinine measurement and GFR estimation, since several factors can interfere in this process. An important recent change was the removal of the correction for race from the equations for estimating GFR, which overestimated kidney function, and consequently delayed the implementation of treatments such as dialysis and kidney transplantation. In this consensus document from the Brazilian Societies of Nephrology and Clinical Pathology and Laboratory Medicine, the main concepts related to the assessment of renal function are reviewed, as well as possible existing controversies and recommendations for estimating GFR in clinical practice.
Assuntos
Nefrologia , Patologia Clínica , Insuficiência Renal Crônica , Humanos , Taxa de Filtração Glomerular , Creatinina , Brasil , Consenso , Diálise Renal , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/terapiaRESUMO
Background: The effect of the dialysate calcium concentration (D[Ca]) on mineral and bone metabolism in patients on peritoneal dialysis (PD) is overlooked. D[Ca] of 1.75 mmol/L is still prescribed to many patients on PD around the world. Previous studies on the effects of reducing D[Ca] have been carried out before the incorporation of calcimimetics in clinical practice. We hypothesized that a reduction in D[Ca] is safe and without the risk of a rise in serum parathyroid hormone (PTH). Methods: In this non-randomized clinical trial, the D[Ca] was reduced from 1.75 mmol/L to 1.25 mmol/L for one year in prevalent patients on PD. Demographic, clinical, and CKD-MBD-related biomarkers were evaluated at baseline, 3, 6, and 12 months of follow-up. Results: 20 patients completed 1-year follow-up (56 ± 16 years, 50 % male, 25 % diabetic, 55 % with baseline parathyroid hormone - PTH >300 pg/mL). Over time, there was no significant change in calcium, phosphate, total alkaline phosphatase, 25(OH)-vitamin D or PTH, although adjustments in calcitriol and sevelamer prescription were required. After 1 year, absolute and percentual change in PTH levels were 36 (-58, 139) pg/mL, and 20 % (-28, 45) respectively. The proportion of patients with PTH > 300 pg/mL did not change during the follow-up (p = 0.173). Conclusion: Knowing the risk of a positive calcium balance in patients on PD, reducing the D[Ca] concentration is a safe and valuable option, although medication adjustments are needed to detain PTH rising.
RESUMO
Left ventricular hypertrophy is a risk factor for cardiovascular mortality in patients on peritoneal dialysis (PD). Because icodextrin has a greater ultrafiltration power compared with glucose-based solutions for long dwell, it could improve left ventricular mass by reducing fluid overload. This was a randomized clinical trial that included patients on PD recruited from 2 teaching hospitals, in Sao Paulo-Brazil. Patients were allocated to the control glucose group (GLU) or the intervention icodextrin (ICO) group. Clinical and cardiac magnetic resonance image (MRI) parameters were evaluated at baseline and 6 months after randomization. The primary outcome was the change in left ventricular mass adjusted by surface area (ΔLVMI), measured by cardiac MRI. A total of 22 patients completed the study (GLU, N = 12 and ICO, N = 10). Baseline characteristics such as age, sex, underlying disease, and time on dialysis were similar in both groups. At baseline, 17 patients (77.3%) presented with left ventricular hypertrophy with no difference between groups (p = 0.748). According to the total body water (TBW)/extracellular water (ECW) ratio, 36.8% and 80% of patients from GLU and ICO groups, respectively, were considered hypervolemic (p = 0.044). During follow-up, ΔLVMI was 3.9 g/m (- 10.7, 2.2) in GLU and 5.2 (- 26.8, 16.8) in ICO group (p = 0.651). ΔLVMI correlated with change in brain natriuretic peptide (r = 0.566, p = 0.044), which remained significant in a multiple regression analysis. The use of the icodextrin-based solution in prevalent patients on PD compared with a glucose-based solution was not able to improve LMV. A larger randomized trial with a longer follow-up period may be needed to show changes in LVM in this patient population.Trial registration: this study has been registered at ReBEC (Registro Brasileiro de Ensaios Clinicos) under the identification #RBR-2mzhmj2, available at: https://ensaiosclinicos.gov.br/pesquisador .
Assuntos
Soluções para Diálise , Icodextrina , Diálise Peritoneal , Brasil , Glucanos/uso terapêutico , Glucose/efeitos adversos , Glucose/uso terapêutico , Humanos , Hipertrofia Ventricular Esquerda/etiologia , Icodextrina/uso terapêutico , Peptídeo Natriurético Encefálico , Diálise Peritoneal/métodos , Estudos Prospectivos , Diálise RenalRESUMO
PURPOSE: There is a paucity of data on the prognosis for patients returning to peritoneal dialysis (PD) after a failed transplant. PD has an advantage over hemodialysis in preserving residual renal function, which is associated with better outcomes. METHODS: We have reviewed the electronic charts of patients on PD in a tertiary academic hospital for the last 8 years. We have compared technique survival, peritonitis-free survival, and residual diuresis in two groups: patients with graft failure which returned to PD (PD-KTx, N = 18) and patients starting PD for other causes (PD-not KTx, N = 163). RESULTS: The median follow-up was similar between groups [42(16,71) in PD-not KTx vs. 48(22,90) months in PD-KTx, p = 0.293]. Kaplan-Meier survival comparing PD-KTx and PD-not KTx showed no difference in technique survival (p = 0.196), and peritonitis-free survival (log-rank 0.238), which were confirmed in a fully adjusted Cox regression. Diuresis at baseline and at the end of the first year was similar between groups (p = 0.799 and p = 0.354, respectively). Six out of 18 patients from the PD-KTx group had the immunosuppression maintained and none of those had peritonitis. The reduction of diuresis across the first year of PD was significant for all patients, except for those on continued immunosuppressive therapy. CONCLUSION: PD is a worthy dialysis alternative after a failed kidney transplant, providing similar outcomes when compared to patients who started PD for other reasons.
Assuntos
Falência Renal Crônica , Transplante de Rim , Diálise Peritoneal , Peritonite , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Diálise Peritoneal/efeitos adversos , Peritonite/etiologia , Diálise Renal/efeitos adversos , Estudos RetrospectivosRESUMO
Peritoneal equilibration test (PET) is the gold standard for evaluating peritoneal transport, and measurement of the drain volume after 4-h dwell time with glucose 4.25% is a simple means of evaluating failure of ultrafiltration. The study objective was to verify if the measurement of the volume drained after 4 h dwell of icodextrin at 7.5% (ICO), has a better correlation with the parameters of PET. Patients in a peritoneal dialysis program (N = 35) underwent three procedures: PET; determination of the drain volume after a 4-h dwell with glucose 4.25%; and determination of the drain volume after a 4-h dwell with ICO. Among patients who were classified as high transporters, the ultrafiltration volume was greater after ICO use. The ICO ultrafiltration volume correlated negatively with the ratio between the 4- and 0-h dialysate glucose concentrations (D4/D0 ratio, r = -0.579; P = 0.002), correlating positively with the dialysate-to-plasma ratio for creatinine (D/PCr ratio, r = 0.474; P = 0.002). For ICO, the area under the receiver operating characteristic curve was 0.867 and 0.792 for the D/PCr and D4/D0 ratios (P < 0.0001 and P = 0.004, respectively), compared with 0.738 and 0.710 for glucose 4.25% (P = 0.020 and P = 0.041, respectively). A cut-off volume of 141 mL discriminated high/high-average transporters from low/low-average transporters. Volume drained after ICO use better predicts peritoneal transport patterns than does that drained after the use of glucose 4.25%.
Assuntos
Soluções para Diálise/farmacocinética , Icodextrina/farmacocinética , Diálise Peritoneal , Peritônio/fisiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Hypokalemia is a well-described electrolyte disturbance in patients on peritoneal dialysis (PD). Hyperkalemia, however, is still overlooked, although it also represents a risk factor for mortality. Angiotensin-converting enzyme inhibitors and/or angiotensin receptor blockers (ACE/ARB), diuretics, and proton pump inhibitor (PPI) can interfere with potassium levels in these patients. METHODS: This is a retrospective study that evaluated monthly serum potassium in a 5-year period. Serum potassium disturbances were evaluated as time-average and number of hypo- and hyperkalemia episodes per patient. Prescribed medication such as ACE/ARB, diuretics, and omeprazole were recorded. RESULTS: We evaluated 2025 potassium measurements obtained from 146 patients on PD. Serum potassium ranged from 2.5 to 8.3 mEq/L with an average of 4.72 ± 0.74 mEq/L. Hypokalemia was found in 59 measurements (2.9%) obtained from 35 patients (23.9%) whereas hyperkalemia was demonstrated in 269 (13.3%) measurements obtained from 74 patients (50.7%). Hypokalemia was associated with low albumin (p = 0.022), and omeprazole use (p = 0.024). Black race was a protector factor (p = 0.031). Omeprazole-associated hypokalemia was seen only in non-anuric patients and remained an independent risk factor even after adjustments. Patients who had hyperkalemia were more likely to be anuric (p = 0.001) and in use of furosemide (p = 0.0001). CONCLUSION: Hyperkalemia and hypokalemia are very frequent in patients on PD and should be closely monitored. Interventional studies should address the impact of discontinuing omeprazole in the levels of potassium.
Assuntos
Hiperpotassemia/epidemiologia , Hipopotassemia/epidemiologia , Diálise Peritoneal/efeitos adversos , Adulto , Idoso , Anuria/complicações , Feminino , Humanos , Hiperpotassemia/sangue , Hiperpotassemia/etiologia , Hipopotassemia/sangue , Hipopotassemia/etiologia , Incidência , Masculino , Pessoa de Meia-Idade , Omeprazol/uso terapêutico , Potássio/sangue , Fatores de Proteção , Inibidores da Bomba de Prótons/uso terapêutico , Grupos Raciais , Estudos Retrospectivos , Fatores de Risco , Albumina Sérica/metabolismoRESUMO
BACKGROUND: Patients undergoing maintenance hemodialysis (HD) exhibit increased levels of uremic toxins, which are associated with poor outcomes. Recently, new dialysis membranes have allowed clearance of solutes with higher molecular weight, without significant albumin losses high-retention-onset-HD (HRO-HD). METHODS: Prospective crossover trial, in which 16 prevalent patients switched from high-flux HD (HF-HD) to online hemodiafiltration (olHDF) and HRO-HD for 4 weeks. The following variables were evaluated: pre- and post-dialysis serum concentrations of albumin, urea, phosphate (P), beta-2 microglobulin (ß2M), and total mass (TM) extraction and dialyzer clearance of urea, P, and ß2M. RESULTS: Comparing HF-HD, olHDF, and HRO-HD, respectively, there were no differences regarding pre-dialysis serum concentrations of albumin (3.94 ± 0.36, 4.06 ± 0.22, and 3.93 ± 0.41 g/dL, p = 0.495), urea (166 ± 29, 167 ± 30, and 164 ± 27 mg/dL, p = 0.971), P (4.9 ± 2.1, 5.2 ± 1.6, and 4.9 ± 2.1 mg/dL, p = 0.879), and ß2M (31.3 ± 7.1, 32.6 ± 8.6, and 33.7 ± 5.9 µg/mL, p = 0.646). ß2M clearance was significantly lower in HF-HD in comparison to both olHDF and HRO-HD: 43 (37-53) versus 64 (48-85) mL/min, p = 0.013, and 69 (58-86) mL/min, p = 0.015, respectively. Post-dialysis ß2M serum concentration was higher in HF-HD in comparison to olHDF and HRO-HD: 11.6 (9.6-12.4) vs. 5.7 (4.5-7.0) µg/mL, p = 0.001, and 5.6 (5.3-7.6) µg/mL, p = 0.001, respectively. TM extraction of urea, P, and ß2M were similar across the 3 dialysis modalities. CONCLUSIONS: olHDF and HRO-HD were superior to HF-HD regarding ß2M clearance, leading to lower post-dialysis ß2M levels.
Assuntos
Hemodiafiltração , Membranas Artificiais , Ureia/metabolismo , Microglobulina beta-2/metabolismo , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Biochemical analysis disclosed hyperphosphatemia (phosphate, 9.0 mg/dL) and normocalcemia (calcium, 4.8 mg/dL), with normal kidney function and fractional excretion of phosphate of 3%. Parathyroid hormone was suppressed (15 pg/mL), associated with a low-normal 25-hydroxyvitamin D (26 ng/mL) concentration but high 1,25-dihydroxyvitamin D concentration (92 pg/mL). Serum intact FGF-23 (fibroblast growth factor 23) was undetectable. Genetic analysis revealed tumoral calcinosis due to a compound heterozygous mutation in FGF23, c.201G>C (p.Gln67His) and c.466C>T (p.Gln156*). Due to lack of other treatment options and because the patient was facing severe vascular complications, we initiated a daily hemodialysis program even in the setting of normal kidney function. This unusual therapeutic option successful controlled hyperphosphatemia and reduced metastatic tumoral lesions. This is a report of a new mutation in FGF23 in which dialysis was an effective treatment option for tumoral calcinosis with normal kidney function.
Assuntos
Calcinose/genética , Calcinose/terapia , Fatores de Crescimento de Fibroblastos/genética , Hiperostose Cortical Congênita/genética , Hiperostose Cortical Congênita/terapia , Hiperfosfatemia/genética , Hiperfosfatemia/terapia , Rim/fisiologia , Mutação/genética , Diálise Renal , Adulto , Calcinose/diagnóstico por imagem , Fator de Crescimento de Fibroblastos 23 , Humanos , Hiperostose Cortical Congênita/diagnóstico por imagem , Hiperfosfatemia/diagnóstico por imagem , Masculino , Diálise Renal/métodos , Resultado do TratamentoRESUMO
Recent studies suggest that NLRP3 inflammasome activation is involved in the pathogenesis of chronic kidney disease (CKD). Allopurinol (ALLO) inhibits xanthine oxidase (XOD) activity, and, consequently, reduces the production of uric acid (UA) and reactive oxygen species (ROS), both of which can activate the NLRP3 pathway. Thus, ALLO can contribute to slow the progression of CKD. We investigated whether inhibition of XOD by ALLO reduces NLRP3 activation and renal injury in the 5/6 renal ablation (Nx) model. Adult male Munich-Wistar rats underwent Nx and were subdivided into the following two groups: Nx, receiving vehicle only, and Nx + ALLO, Nx rats given ALLO, 36 mg/Kg/day in drinking water. Rats undergoing sham operation were studied as controls (C). Sixty days after surgery, Nx rats exhibited marked albuminuria, creatinine retention, and hypertension, as well as glomerulosclerosis, tubular injury, and cortical interstitial expansion/inflammation/fibrosis. Such changes were accompanied by increased XOD activity and UA renal levels, associated with augmented heme oxigenase-1 and reduced superoxide dismutase-2 renal contents. Both the NF-κB and NLRP3 signaling pathways were activated in Nx. ALLO normalized both XOD activity and the parameters of oxidative stress. ALLO also attenuated hypertension and promoted selective tubulointerstitial protection, reducing urinary NGAL and cortical interstitial injury/inflammation. ALLO reduced renal NLRP3 activation, without interfering with the NF-κB pathway. These observations indicate that the tubulointerstitial antiinflammatory and antifibrotic effects of ALLO in the Nx model involve inhibition of the NLRP3 pathway, and reinforce the view that ALLO can contribute to arrest or slow the progression of CKD.
Assuntos
Alopurinol/farmacologia , Inflamassomos/fisiologia , Túbulos Renais/efeitos dos fármacos , Proteína 3 que Contém Domínio de Pirina da Família NLR/fisiologia , Nefrectomia , Insuficiência Renal Crônica/tratamento farmacológico , Alopurinol/uso terapêutico , Animais , Hipertensão/tratamento farmacológico , Inflamassomos/antagonistas & inibidores , Masculino , NF-kappa B/fisiologia , Proteína 3 que Contém Domínio de Pirina da Família NLR/antagonistas & inibidores , Ratos , Ratos Wistar , Xantina Oxidase/antagonistas & inibidoresRESUMO
INTRODUCCIÓN: La Enfermedad de Fabry es una entidad rara hereditaria ligada al cromosoma X, debida a la deficiencia o ausencia de la enzima α-galactosidasa A. OBJETIVO: Presentar la primera recomendación para el inicio oportuno de la terapia de reemplazo enzimático en la variante clásica de la enfermedad, en base al conocimiento y experiencia en el manejo de estos pacientes por un grupo de profesionales expertos en el tema pertenecientes a diez países de Latinoamérica: Argentina, Brasil, Colombia, Costa Rica, Chile, Ecuador, México, Perú, Uruguay y Venezuela. MATERIAL Y MÉTODOS: El coordinador del proyecto diseñó un documento fuente, basado en los criterios de inicio del tratamiento establecidos en las distintas guías internacionales publicadas a la fecha. Posteriormente, se distribuyó la encuesta a todos los participantes para su evaluación. RESULTADOS: Cincuenta expertos respondieron la encuesta online, siendo los criterios divididos en 5 secciones por especialidad, logrando un consenso entre todos ellos. Discusión: Debido a la creciente evidencia sobre la mejor respuesta y pronóstico asociada a un inicio de tratamiento precoz, se definieron los criterios que pueden llevar a una temprana indicación del tratamiento. CONCLUSIÓN: Entendemos que uno de los méritos de esta recomendación fue la inclusión de expertos pertenecientes a 10 países latinoamericanos. Sin embargo, como toda recomendación en una enfermedad multisistémica en plena descripción de nuevos mecanismos fisiopatológicos y complicaciones asociadas quedan manifestaciones no incluidas dentro de los criterios, lo que obliga a la constante necesidad de revisar estas recomendaciones, para poder incluir los cambios a medida que vayan ocurriendo en próximos reportes
INTRODUCTION: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. OBJECTIVE: To provide the first guideline on the best time to start enzyme replacement therapy to treat classic Fabry disease, based on the knowledge and experience of experts from ten Latin American countries: Argentina, Brazil, Colombia, Costa Rica, Chile, Ecuador, Mexico, Peru, Uruguay and Venezuela. METHODS: The project coordinator designed a survey based on the criteria for starting the treatment which are established in different international guidelines published to date. This document was later sent to all the participants for its evaluation. RESULTS: Fifty experts responded to the survey, whose criteria was divided into 5 sections according to specialty, and they arrived at a consensus. Discussion: The criteria for an early treatment were defined given the growing evidence of a better response and prognosis associated with it. CONCLUSION: We believe that the importance of this guideline relies on the participation of experts from ten Latin American countries. However, as it deals with a systemic disease whose physiopathological mechanisms and complications are still being described, some manifestations have not been included in the criteria, making it necessary to revise this guideline in order to report any changes that may arise in the future
Assuntos
Humanos , Doença de Fabry , Consenso , Reativadores Enzimáticos , alfa-GalactosidaseRESUMO
Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders and renal involvement. Renal involvement occurs due to Gb3 accumulation in all types of renal cells. Therefore, patients may present glomerular and tubular function disorders. Podocytes are particularly affected, with pedicels effacement and development of proteinuria. The diagnosis is made by detection of reduced plasma or leukocyte α-galactosidase activity and genetic study for detecting the α-galactosidase gene mutation. Treatment with enzyme replacement contributes to delay the progression of kidney disease, especially if initiated early.
Assuntos
Doença de Fabry/complicações , Nefropatias/etiologia , Biópsia , Doença de Fabry/diagnóstico , Doença de Fabry/terapia , Humanos , Nefropatias/patologiaRESUMO
Resumo Todas as células do corpo humano apresentam acúmulo de globotriaosilceramida (Gb3) na doença de Fabry devido à mutação que ocorre no gene da enzima α-galactosidase A. Trata-se de uma doença ligada ao sexo. Os achados clínicos são: angioqueratomas cutâneos; acroparestesias e acidentes vasculares encefálicos precoces; sudorese diminuída e intolerância ao calor; alterações oculares; hipertrofia miocárdica, arritmias; alterações gastrointestinais e renais. O envolvimento renal ocorre devido ao acúmulo do Gb3 em todos os tipos de células renais. Portanto, os pacientes podem apresentar distúrbios das funções glomerulares e tubulares. Os podócitos são particularmente acometidos, com apagamento dos pedicélios e desenvolvimento de proteinúria. O diagnóstico é feito por meio da detecção de reduzida atividade plasmática ou leucocitária da α-galactosidase e pela detecção da mutação do gene da α-galactosidase. O tratamento com reposição enzimática contribui para o retardo da progressão da doença renal, principalmente se instituído precocemente.
Abstract Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders and renal involvement. Renal involvement occurs due to Gb3 accumulation in all types of renal cells. Therefore, patients may present glomerular and tubular function disorders. Podocytes are particularly affected, with pedicels effacement and development of proteinuria. The diagnosis is made by detection of reduced plasma or leukocyte α-galactosidase activity and genetic study for detecting the α-galactosidase gene mutation. Treatment with enzyme replacement contributes to delay the progression of kidney disease, especially if initiated early.
Assuntos
Humanos , Doença de Fabry/complicações , Nefropatias/etiologia , Biópsia , Doença de Fabry/diagnóstico , Doença de Fabry/terapia , Nefropatias/patologiaRESUMO
BACKGROUND/AIMS: Ultrafiltration that occurs during hemodialysis (HD) promotes profound alterations in a relatively short period of time. The dialysate content of bicarbonate (DBic) and potassium (DK) may have impact over intradialytic hemodynamics, which goes beyond ultrafiltration, and its impact was evaluated in a prospective cohort. METHODS: 30 patients under HD were submitted to hemodynamic assessment (HA) at the beginning and at the end of HD sessions, through a non-invasive method. Serum minus dialysate potassium concentration was expressed as K-Gap. Cardiac index (CI) and peripheral arterial resistance (PAR) variation (post-HD minus pre-HD) were expressed as ΔCI and ΔPAR. Dialysate content of sodium and calcium were expressed as DNa and DCa, respectively. RESULTS: Mean DNa, DK and DBic were, respectively, 136.4 ± 1.1, 2.1 ± 0.6 and 38.2 ± 2.1 mEq/L. In 15 patients, DCa was >1.5 mmol/L and in the other 15 patients ≤ 1.5 mmol/L. The K-Gap ranged from 1.4 to 5.1 mEq/l (median 3.0 mEq/L). There was a reduction in post-HD CI and systolic blood pressure (ΔCI = -0.72l/min/m(2) and -11.3±15.1mmHg, respectively, p<0.001 for both). Conversely, PAR increased (ΔPAR = 272dyn.s/cm(5), p<0.001). Lower post-HD CI was was associated to higher DBic (p=0.0013) and lower K-Gap (p=0.026). In multivariate analysis, ΔCI was dependent on DBic and K-Gap, whereas ΔPAR was dependent on dialysate calcium during HD. CONCLUSION: We confirmed that Na and Ca dialysate content exerts and important role on hemodynamic during HD. In addition, our findings pointed out that higher dialysate concentrations of bicarbonate and potassium promote lower cardiac performance at the end of hemodialysis session.