RESUMEN
ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date. Although it is a rare cause of pediatric hypercalcemia, it should be considered in children with Down syndrome once other more common etiologies have been ruled out. Once this diagnosis is confirmed, the recommended treatment is to reduce dietary calcium intake and work with an interdisciplinary team to maintain an adequate calorie and protein intake.
El síndrome ABCD (por sus siglas en inglés, ABnormal Calcium, Calcinosis and Creatinine in Down syndrome) se caracteriza por la asociación de hipercalcemia, hipercalciuria, nefrocalcinosis y alteración de la función renal en pacientes con síndrome de Down. Existen solo 7 casos previamente publicados en el mundo, aunque se cree que está subdiagnosticado. En este reporte, presentamos 2 nuevos pacientes con este síndrome y realizamos una comparación con los casos informados hasta el momento. Si bien es una causa rara de hipercalcemia pediátrica, debe considerarse en niños con síndrome de Down una vez descartadas otras etiologías más frecuentes. Al confirmarse este diagnóstico, el tratamiento recomendado es la reducción de calcio en la dieta, trabajando de manera interdisciplinaria para mantener un aporte calórico proteico adecuado.
Asunto(s)
Síndrome de Down , Hipercalcemia , Humanos , Hipercalcemia/etiología , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Síndrome de Down/complicaciones , Masculino , Femenino , Nefrocalcinosis/etiología , Nefrocalcinosis/complicaciones , Nefrocalcinosis/diagnóstico , Preescolar , Niño , Calcinosis/complicaciones , Calcinosis/etiología , Calcinosis/diagnóstico , Creatinina/sangreRESUMEN
BACKGROUND: Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis. CASE-DIAGNOSIS/TREATMENT: A 3-month-old girl suspected to have a milk protein allergy underwent an ultrasound that revealed increased echogenicity in the kidney pyramids suggestive of medullary NC. At the age of 18 months, imaging findings revealed not only hyperechogenicity in the medulla but also in the cortex. Over the course of a long follow-up, her kidneys maintained size within the upper limits but showed an increase by age 7. Genetic analysis identified PKHD1 variants, which required structural predictive tools to guide clinical diagnosis. Until the age of 7, her kidney function has remained intact; however, her prognosis is uncertain. CONCLUSIONS: NC in newborns is a rare condition, but its incidence is rising. Recurrent urinary infections or kidney stones may lead to kidney failure. A proactive approach in sporadic NC enables an early diagnosis to orientate clinical supervision and facilitates counseling to support family planning decisions.
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Nefrocalcinosis , Humanos , Femenino , Nefrocalcinosis/genética , Nefrocalcinosis/diagnóstico por imagen , Nefrocalcinosis/diagnóstico , Lactante , Receptores de Superficie Celular/genética , Ultrasonografía/métodos , Riñón/diagnóstico por imagen , Riñón/anomalías , Riñón/patología , MutaciónRESUMEN
BACKGROUND: Bartter's syndrome (BS) is a group of salt-wasting tubulopathies characterized by hypokalemia, metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism, and low or normal blood pressure. Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb of Henle in the nephron, produced different genetic types of BS. AIM: Clinical and genetic analysis of families with Antenatal Bartter syndrome (ABS) and with Classic Bartter syndrome (CBS). METHODS: Nine patients from unrelated non-consanguineous Mexican families were studied. Massive parallel sequencing of a gene panel or whole-exome sequencing was used to identify the causative gene. RESULTS: Proband 1 was homozygous for the pathogenic variant p.Arg302Gln in the SLC12A1 gene encoding for the sodium-potassium-chloride NKCC2 cotransporter. Proband 3 was homozygous for the nonsense variant p.Cys308* in the KCNJ1 gene encoding for the ROMK potassium channel. Probands 7, 8, and 9 showed variants in the CLCKNB gene encoding the chloride channel ClC-Kb: proband 7 was compound heterozygous for the deletion of the entire gene and the missense change p.Arg438Cys; proband 8 presented a homozygous deletion of the whole gene and proband 9 was homozygous for the nonsense mutation p.Arg595*. A heterozygous variant of unknown significance was detected in the SLC12A1 gene in proband 2, and no variants were found in SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, and MAGED2 genes in probands 4, 5, and 6. CONCLUSIONS: Genetic analysis identified loss-of-function variants in the SLC12A1, KCNJ1, and CLCNKB genes in four patients with ABS and in the CLCNKB gene in two patients with CBS.
Asunto(s)
Síndrome de Bartter , Humanos , Femenino , Embarazo , Síndrome de Bartter/genética , Homocigoto , Eliminación de Secuencia , Heterocigoto , Mutación , Antígenos de Neoplasias , Proteínas Adaptadoras Transductoras de Señales , Canales de Cloruro/genéticaRESUMEN
The 2022 International Task Force guidelines for chronic hypoparathyroidism will be published within several months in the Journal of Bone and Mineral Research. These guidelines update the original guidelines published in 2016, and include new information from literature published since then. Chronic postsurgical hypoparathyroidism is now defined as lasting for at least 12 months after surgery, rather than 6 months. Chronic postsurgical hypoparathyroidism may be predicted by serum PTH <10 pg/mL in the first 12-24 hours after surgery. The most common symptoms and complications of chronic hypoparathyroidism based on the literature are summarized in detail. How to monitor and manage patients with hypoparathyroidism is described in detail where recommendations can be given. These guidelines are intended to frame the diagnosis and care of patients with chronic hypoparathyroidism for at least the next five years.
Asunto(s)
Hipocalcemia , Hipoparatiroidismo , Humanos , Calcio , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/etiología , Hipoparatiroidismo/terapia , Huesos , Hormona ParatiroideaRESUMEN
ABSTRACT The 2022 International Task Force guidelines for chronic hypoparathyroidism will be published within several months in the Journal of Bone and Mineral Research. These guidelines update the original guidelines published in 2016, and include new information from literature published since then. Chronic postsurgical hypoparathyroidism is now defined as lasting for at least 12 months after surgery, rather than 6 months. Chronic postsurgical hypoparathyroidism may be predicted by serum PTH <10 pg/mL in the first 12-24 hours after surgery. The most common symptoms and complications of chronic hypoparathyroidism based on the literature are summarized in detail. How to monitor and manage patients with hypoparathyroidism is described in detail where recommendations can be given. These guidelines are intended to frame the diagnosis and care of patients with chronic hypoparathyroidism for at least the next five years.
RESUMEN
The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the FAM20A gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. The study is a systematic review of the scientific literature, whose research was developed in the PubMed database in March 2018. A total of 69 articles were found. Two authors analyzed their abstracts and selected, according to the language and main subject, 30 articles to write this study. A total of 69 patients were cited in the studies and their data were analysed. There was gender equivalence and the ages ranged from 1 to 64 years old. There is a clear hereditary relation of the syndrome, since there was consanguinity in 18 cases, indicating a percentage of 26.08% and family history in 30 cases (43.47%). Laboratory changes vary greatly from patient to patient and may even remain unchanged. The relationship between the syndrome and the mutation in the FAM20A gene can be proven from the data, since all patients with ERS screened by the mutation were positive. With the advancement of the ERS studies, some associations with the syndrome are suspected, such as the presence of gingival fibromatosis, hearing loss, and hypertrichosis. Thus, it is noticed that the syndrome does not show a predilection for gender or age and there is a strong hereditary character, marked by the consanguinity and family history of the patients. The association with the FAM20A gene is reinforced, since the mutation was identified in all patients analyzed.
RESUMEN
BACKGROUND: Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA). Factors responsible for decreased GFR need clarification. METHODS: We reviewed records of 25 patients with genetically confirmed DRTA included in the RenalTube database. Patients < 18 years at diagnosis and having at least one annual follow-up were selected and classified in two groups according to GFR ≥ 90 (normal GFR) or < 90 mL/min/1.73 m2 (low GFR) after median follow-up of 8.8 years. RESULTS: Eighteen and seven patients had normal and low GFR (X ± SEM, 121.16 ± 28.87 and 71.80 ± 10.60 mL/min/1.73 m2, respectively, p < 0.01). At diagnosis, these 2 subgroups did not differ in sex, age, underlying mutated gene, GFR, height SDS, or percentage of ultrasound nephrocalcinosis. Serum creatinine (SCr) was different but likely due to median ages of presentation being 0.6 and 4.0 in normal and low GFR patients, respectively. On the last recorded visit, no differences between both groups were found in serum bicarbonate, serum potassium, or alkali dosage. Height SDS of patients with normal GFR was - 0.15 ± 0.47 whereas it was - 1.06 ± 0.60 in the low GFR group (p = 0.27). Interestingly, 23% of the whole group had low birth weight (LBW; < 2500 g), equating to 20% and 29% in the normal and low GFR patients, respectively (p = 0.65). CONCLUSIONS: Our findings confirm the risk of kidney function reduction in patients with DRTA of pediatric age onset, suggesting that low GFR is related with less favorable growth outcome and discloses the high frequency of LBW in primary DRTA, a hitherto unrecognized feature.
Asunto(s)
Acidosis Tubular Renal , Nefrocalcinosis , Acidosis Tubular Renal/diagnóstico , Acidosis Tubular Renal/genética , Niño , Creatinina , Tasa de Filtración Glomerular , Humanos , Riñón/diagnóstico por imagen , Nefrocalcinosis/genéticaRESUMEN
BACKGOUND: Bartter's syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle's loop. DATA SOURCES: Literature reviews and original research articles were collected from database, including PubMed and Scopus. RESULTS: According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Molecular studies have identified different subtypes of BS. BS types I, II and III are caused by mutations on genes encoding the luminal Na+-K+-2Cl- co-transporter, the luminal K+ channel ROMK, and the basolateral chloride channel ClC-Kb (CLCNKB), respectively. Loss-of-function mutations of Barttin CLCNK type accessory beta subunit cause BS type IVa. Simultaneous mutations of CLCNKB and CLCNKA cause BS type IVb. BS type V consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member D2. Severe gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of BS. Main clinical and biochemical alterations in BS include polyuria, dehydration, hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, high levels of prostaglandins, normal or low blood pressure, hypercalciuria and failure to thrive. Treatment focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria, including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 production. CONCLUSIONS: Early diagnosis and treatment of BS may prevent long-term consequences such as growth failure, nephrocalcinosis and end-stage renal disease.
Asunto(s)
Síndrome de Bartter , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Síndrome de Bartter/terapia , HumanosRESUMEN
ABSTRACT We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Clinical findings, immunological tests and the result of skin biopsy suggested primary Sjögren's syndrome as an underlying cause. The patient developed azotemia due to obstructive nephrolithiasis. All the features presented in this case are an unusual manifestation of distal renal tubular acidosis; so far, we are not aware of a similar report in the literature.
RESUMO Relatamos um caso incomum de uma jovem de 24 anos com história de episódios recorrentes de paralisia hipocalêmica e lesões cutâneas em membros inferiores e nádegas, ambas de evolução aguda. Em investigações subsequentes, verificou-se que a paciente apresentava nefrocalcinose, nefrolitíase, acidose metabólica hiperclorêmica e pH urinário persistentemente alcalino. Os achados foram consistentes com acidose tubular renal distal como causa da paralisia hipocalêmica. Achados clínicos, exames imunológicos e o resultado da biópsia de pele foram compatíveis com a síndrome de Sjögren primária como causa subjacente. A paciente evoluiu com azotemia em decorrência da nefrolitíase obstrutiva. Todas as características apresentadas nesse caso são uma manifestação incomum de acidose tubular renal distal; até o momento, não temos conhecimento de um relato semelhante na literatura.
Asunto(s)
Humanos , Femenino , Adulto , Adulto Joven , Acidosis Tubular Renal , Síndrome de Sjögren , Hipopotasemia , Nefrocalcinosis , BrasilRESUMEN
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease caused by mutations in the CLDN16 or CLDN19 gene; however, few cases develop classical amelogenesis imperfecta. Herein, we report the case of a boy with early clinical renal manifestations that started at 1 year of age and presenting with dental hypoplasia and growth delay. The patient presented with vomiting, polyuria, and polydipsia. Apart from recurrent sterile leukocyturia, erroneously treated as infectious, he was normal, except for short stature and amelogenesis imperfecta with gradually discolored teeth. Laboratory tests revealed hyperparathyroidism, hypomagnesemia, severe hypercalciuria, and hypermagnesuria on 24-h urine testing. Helical computed tomography confirmed nephrocalcinosis. We performed whole-exome sequencing (WES) to test the hypothesis of FHHNC and oligogenic inheritance of amelogenesis. Analysis of the WES binary sequence alignment/map file revealed the presence of exon 1 of the CLDN16 and absence of the other exons [c.325_c918*? (E2_E5del)]. We confirmed a CLDN16 E2_E5 homozygous deletion by multiplex ligation-dependent probe amplification and polymerase chain reaction assays. Although most mutations causing FHHNC are missense and nonsense mutations in the CLDN16 or CLDN19 gene, large deletions occur and may be misled by WES, which is generally used for genetic screening of oligogenic disorders. The patient received cholecalciferol, magnesium oxide and potassium citrate. Later, the combination with hydrochlorothiazide plus amiloride was prescribed, with a good response during follow-up. Our report broadens the phenotype of FHHNC, including severe early-onset amelogenesis and short stature, and reinforces the phenotype-genotype correlation of the large deletion found in CLDN16.
Asunto(s)
Amelogénesis Imperfecta , Claudinas/genética , Hipercalciuria/genética , Nefrocalcinosis/genética , Defectos Congénitos del Transporte Tubular Renal/genética , Amelogénesis Imperfecta/genética , Estatura , Niño , Homocigoto , Humanos , Masculino , Eliminación de SecuenciaRESUMEN
Resumen La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.
Abstract The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.
Asunto(s)
Humanos , Masculino , Femenino , Acidosis Tubular Renal , Pacientes , Colombia , Hermanos , Genética , NefrocalcinosisRESUMEN
La hiperoxaluria primaria tipo 2 es una enfermedad rara caracterizada por sobreproducción de oxalato por una deficiencia enzimática intrahepática, lo que lleva a litiasis renal, nefrocalcinosis y daño renal crónico. Varón de 17 años con antecedentes de infecciones urinarias, y litiasis renal desde los 6 años. Desarrolló insuficiencia renal crónica terminal a los 11 años ingresando a terapia de diálisis peritoneal crónica ambulatoria. Durante su evolución presentó dolor a nivel de la columna vertebral y grandes articulaciones como tobillos, rodillas y hombros, deformación progresiva de las articulaciones distales de las manos. La resonancia magnética de columna reporto aplastamiento de cuerpos vertebrales en D8 y D9. La biopsia ósea de vértebra mostró depósito de cristales de oxalato de calcio. El estudio genético confirmó el diagnóstico de hiperoxaluria primaria tipo 2, esta enfermedad debe sospecharse en niños que forman cálculos a temprana edad, sería el primer caso reportado en Perú.
Primary hyperoxaluria type 2 is a rare disease characterized by over production of oxalate due to a deficiency of an intra hepatic enzyme leading to renal lithiasis, nephrocalcinosis and chronic kidney damage. We report the case of 17-year-old male patients with history of urinary tract infections and renal lithiasis since the age of 6 years. The patient developed end-stage kidney disease at the age of 11 years receiving chronic ambulatory peritoneal dialysis. He developed back pain and polyarthralgia of the ankles, knees, shoulders and progressive deformity of the hands. The magnetic resonance of the spine revealed flattening of D9-D9. Bone biopsy of the affected area showed presence of calcium oxalate. A genetic study confirmed the diagnosis of primary hyperoxaluria type 2. This entity should be suspected in children with renal stones at an early age, this may be the first case in Peru.
RESUMEN
La acidosis tubular renal distal es el tipo más frecuente de acidosis tubular renal en pediatría y puede ser hereditario. Se debe a una incapacidad del riñón para excretar iones de hidrógeno, en ausencia de deterioro de la función renal, y ocurre con acidosis metabólica hiperclorémica con brecha aniónica (anion gap) normal. Los síntomas pueden ser retraso del crecimiento, vómitos, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipokalemia. A menudo, se acompaña de deterioro auditivo neurosensorial. Corregir la acidosis puede tener una variedad de beneficios, como restaurar el crecimiento normal, disminuir la hipokalemia, estabilizar o evitar la nefrocalcinosis y disminuir el riesgo de osteopenia. El diagnóstico oportuno y el tratamiento adecuado de los pacientes hacen que permanezcan asintomáticos y sean capaces de llevar una buena calidad de vida. Se presentan los casos de dos hermanos afectados por acidosis tubular renal distal, su proceso diagnóstico, tratamiento y seguimiento actual.
Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.
Asunto(s)
Humanos , Recién Nacido , Preescolar , Acidosis Tubular Renal , Diagnóstico , Insuficiencia de Crecimiento , NefrocalcinosisRESUMEN
CONTEXT: Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce. OBJECTIVE: To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed PHEX mutations. METHODS: Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. The images were evaluated by two blinded radiologists specializing in US and two specializing in CT. Confirmation of NC was determined with a positive result on both US and CT, whereas the diagnosis of NL was confirmed by CT alone. The presence of hypercalciuria, hypocitraturia, and hyperoxaluria was determined from 24-hour urinary samples from each patient. The glomerular filtration rate was estimated. RESULTS: NC was identified in 15 patients (38.4%), and stratification by age group showed a higher prevalence of NC in children than in adults (56.2% vs 26.1%). CT identified NL in four adults (10.2%). Patients in the pediatric group required intensive use of phosphate, started treatment earlier, and presented greater phosphaturia than those in the adult group (P < 0.01). In addition to hyperphosphaturia, which was present in all patients with XLH, hypocitraturia was the most common metabolic factor (28.2%), whereas hypercalciuria occurred in two patients (5.1%). None had hyperoxaluria. Most patients had normal renal function. CONCLUSIONS: NC was more prevalent than NL. The main metabolic factor was hyperphosphaturia, and intensive phosphate treatment appears to be a worsening factor for kidney calcification.
RESUMEN
Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.
La acidosis tubular renal distal es el tipo más frecuente de acidosis tubular renal en pediatría y puede ser hereditario. Se debe a una incapacidad del riñón para excretar iones de hidrógeno, en ausencia de deterioro de la función renal, y ocurre con acidosis metabólica hiperclorémica con brecha aniónica (anion gap) normal. Los síntomas pueden ser retraso del crecimiento, vómitos, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipokalemia. A menudo, se acompaña de deterioro auditivo neurosensorial. Corregir la acidosis puede tener una variedad de beneficios, como restaurar el crecimiento normal, disminuir la hipokalemia, estabilizar o evitar la nefrocalcinosis y disminuir el riesgo de osteopenia. El diagnóstico oportuno y el tratamiento adecuado de los pacientes hacen que permanezcan asintomáticos y sean capaces de llevar una buena calidad de vida. Se presentan los casos de dos hermanos afectados por acidosis tubular renal distal, su proceso diagnóstico, tratamiento y seguimiento actual.
Asunto(s)
Acidosis Tubular Renal/diagnóstico , Hermanos , Acidosis Tubular Renal/fisiopatología , Acidosis Tubular Renal/terapia , Preescolar , Femenino , Humanos , Recién Nacido , MasculinoRESUMEN
Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for kidney examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
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Amelogénesis Imperfecta/genética , Proteínas del Esmalte Dental/genética , Genética de Población , Nefrocalcinosis/genética , Adolescente , Adulto , Amelogénesis Imperfecta/epidemiología , Amelogénesis Imperfecta/patología , Brasil/epidemiología , Niño , Exones/genética , Femenino , Efecto Fundador , Mutación del Sistema de Lectura/genética , Homocigoto , Humanos , Riñón/metabolismo , Riñón/patología , Masculino , Nefrocalcinosis/epidemiología , Nefrocalcinosis/patología , Linaje , Eliminación de Secuencia/genética , Adulto JovenRESUMEN
La Amelogénesis Imperfecta (AI) es alteración de la estructura y apariencia del esmalte dental de origen genético, puede presentarse como defecto aislado o sistémico. El Síndrome Amelogénesis imperfectaNefrocalcinosis (OMIM # 204690), también conocido como Síndrome Esmalte-Renal (ERS, en inglés), se caracteriza por la presencia de AI de tipo hipoplásico, hiperplasia gingival con mineralizaciones ectópicas, retraso y/o ausencia de la erupción dental y Nefrocalcinosis. Este síndrome es asociado a mutaciones autosómicas recesivas del gen FAM20A. El objetivo de esta revisión es exponer las características clínicas y fenotípicas de pacientes con el Síndrome Amelogénesis imperfecta Nefrocalcinosis. La obtención del material fue realizado mediante una búsqueda electrónica en las bases de datos MEDLINE (PubMed), EBSCO- Host y Scopus (ScienceDirect). Los resultados confirman la escasa frecuencia de casos clínicos con el Síndrome Amelogénesis imperfectaNefrocalcinosis. Las características clínicas y fenotípicas se exponen de manera clara, sencilla y precisa. Se recomienda a los odontólogos generales y odontólogos pediátricos que al diagnosticar una AI, particularmente de tipo hipoplásico, realicen una detallada historia médica personal - familiar y contemplen una interconsulta con el servicio de nefrología que permita diagnosticar o realizar un seguimiento al estado renal del paciente de una forma preventiva.
Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect. The Amelogenesis Imperfecta-Nefrocalcinosis Syndrome (OMIM # 204690), also known as Enamel-Renal Syndrome (ERS), is characterized by the presence of hypoplastic AI, gingival hyperplasia with ectopic mineralization, delayed tooth eruption and Nephrocalcinosis. This syndrome is associated with autosomal recessive mutations of the FAM20A gene. The aim of this review is to present the clinical and phenotypic characteristics of patients with the Amelogenesis Imperfecta-Nefrocalcinosis Syndrome. The material was obtained through an online search of MEDLINE database (PubMed), EBSCO-Host and Scopus (ScienceDirect). The results confirm the low frequency of clinical cases reported with Syndrome Amelogenesis Imperfecta-Nefrocalcinosis. The clinical and phenotypic characteristics were exposed in a clear, simple and precise way. It is recommended to general dentists and pediatric dentists that, when diagnosing an AI, particularly of hypoplastic type, they perform a detailed personal-family medical history and contemplate an interconsultation with the nephrology service that allows to diagnose or monitor the patient's renal status in a preventive style.
Asunto(s)
Amelogénesis ImperfectaRESUMEN
Primary Sjögren's syndrome is a systemic and chronic autoimmune disease. Renal involvement may occur in up to 30% of patients. The incidence of tubulopathies ranges from 2.6 to 33%. They are manifested by defects in the urine concentration and hydroelectrolyte alterations, mainly distal tubular acidosis and exceptionally proximal tubular acidosis. These disorders can be associated with nephrocalcinosis and renal lithiasis. We report the case of a patient with primary Sjögren who presented proximal renal tubular acidosis associated with recurrent renal colic due to renal lithiasis and nephrocalcinosis. We highlight the importance of diagnosing renal tubular acidosis in patients with Sjögren's syndrome that present alterations in urinary sediment and electrolyte disorders to avoid nephrocalcinosis and nephrolithiasis. Acidosis correction treatment aims to prevent the progression of the disorder and preserve renal function.
El síndrome de Sjögren primario es una enfermedad autoinmune sistémica de evolución crónica. Puede presentar compromiso renal hasta en un 30% de los pacientes.La incidencia de tubulopatías varía de 2.6 a 33%. Se manifiestan por defectos en la concentración de la orina y alteraciones hidroelectrolíticas, principalmente acidosis tubular distal y de manera excepcional acidosis tubular proximal. Estos trastornos pueden asociarse a Nefrocalcinosis y litiasis renal. Reportamos el caso de una paciente con Sjögren primario que presentó acidosis tubular renal proximal asociada a cólicos renales recurrentes por litiasis renal y nefrocalcinosis. Destacamos la importancia de diagnosticar acidosis tubular renal en pacientes con síndrome de Sjögren que presenten alteraciones en el sedimento urinario y desórdenes electrolíticos para evitar la nefrocalcinosis medular y las nefrolitiasis asociadas. La terapia para la corrección de la acidosis tiene como objetivo evitar la progresión del trastorno y preservar la función renal.
Asunto(s)
Acidosis Tubular Renal/diagnóstico , Nefrocalcinosis/diagnóstico , Síndrome de Sjögren/diagnóstico , Acidosis Tubular Renal/complicaciones , Creatinina/sangre , Electrólitos/sangre , Electrólitos/orina , Femenino , Humanos , Persona de Mediana Edad , Nefrocalcinosis/complicaciones , Proteinuria/orina , Cólico Renal/complicaciones , Síndrome de Sjögren/complicaciones , UltrasonografíaRESUMEN
SUMMARY Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. We present a male bodybuilder, in his thirties, with multiple silicone injections in his upper extremities, who developed hypercalcemia and urinary symptoms. Advanced laboratory tests ruled out various causes of hypercalcemia and CT imaging revealed nephrocalcinosis. A biopsy of the upper arm showed granulomatous tissue and inflammation. The patient necessitated two sessions of dialysis and corticosteroids were given to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers. Treatment should be optimized depending on the patient's needs and condition.
RESUMO A hipercalcemia associada ao granuloma induzido por silicone é uma doença rara. O diagnóstico pode ser complicado, pois é estabelecido depois de eliminadas outras entidades que causam hipercalcemia. Além disso, o gerenciamento é personalizado, dependendo dos desejos do paciente e das possíveis soluções. Apresentamos um fisiculturista masculino, com trinta e poucos anos, múltiplas injeções de silicone nas extremidades superiores, que desenvolveu hipercalcemia e sintomas urinários. Testes laboratoriais avançados descartaram várias causas de hipercalcemia e a imagem da TC revelou nefrocalcinoses. Uma biópsia da parte superior mostrou tecido granulomatoso e inflamação. O paciente exigiu duas sessões de diálise e foram administrados corticosteroides para aliviar os sintomas e reverter as anormalidades laboratoriais. A hipercalcemia induzida por silicone deve estar em alerta elevado devido à crescente tendência de aprimoramentos do contorno corporal com injeções, implantes e enchimentos. O tratamento deve ser otimizado de acordo com as necessidades e condições do paciente.