COL4A5 genotypes and clinical characteristics of children with Alport syndrome / 中国当代儿科杂志

OBJECTIVES@#To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS).@*METHODS@#A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations.@*RESULTS@#Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5 gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the COL4A5 gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the COL4A5 gene. Among all 19 children, 3 children (16%) who carried COL4A5 gene mutations also had COL4A4 gene mutations, and 1 child (5%) had COL4A3 gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset.@*CONCLUSIONS@#This study expands the genotype and phenotype spectrums of the pathogenic gene COL4A5 for AS. Children with large fragment deletion of the COL4A5 gene or double gene mutations of COL4A5 with COL4A3 or COL4A4 tend to have more serious clinical manifestations.

Repercusiones oculares del Síndrome de Alport: A propósito de dos casos / Alport syndrome. Report of two cases

Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. We report two men with Alport syndrome. Both had chronic kidney disease and consulted for long-term loss of visual acuity. One had auditory abnormalities. On the ophthalmological examination, both had anterior lenticonus and one had dot or fleck retinopathy. Those findings are described in up to 50% and 70% of men with X-linked Alport syndrome, respectively. Both patients had a family history of Alport syndrome or suggestive signs and symptoms.

Evolução da síndrome de alport em crianças brasileiras / The evolution of alport syndrome in Brazilian children

Objetivo: Apresentar a evolução de crianças com Síndrome de Alport e determinar manifestações preditivas de Insuficiência renal crônica. Material eMétodos: Revisão dos prontuários de todas as crianças com diagnóstico confirmado de S. Alport por biópsia com microscopia eletrônica. Resultados:Vinte e dois pacientes, de vinte diferentes famílias, com idade inicial de 7 ± 6.5 anos, com tempo médio de acompanhamento de 8 ± 8 anos foramestudados. A queixa mais freqüente foi de hematúria macroscópica com antecedente familiar de insuficiência renal crônica (IRC), seguida da de hematúriamicroscópica e antecedente familiar de hematúria . Dezenove casos tiveram evolução pôndero-estatural dentro do canal de crescimento. Hipertensãoarterial e anemia somente foram detectadas nos casos com evolução para IRC e após a sua instalação. Perda auditiva neuro-sensorial foi encontrada aos10 ± 4 anos em 09/22, sendo que todos evoluíram para IRC (p= 0,002). Proteinúria nefrótica surgiu entre oito e 12 anos de idade e somente nos casoscom evolução para IRC (p= 0,002). A média do clearance de creatinina nas faixas etárias de 4 a < 8; 8 a <12; 12 a <16 e nos >= 16 anos foramrespectivamente de 123,0; 107,1; 84,8 e 69,7 ml/min/1.73 m2 . Doze pacientes (seis de cada sexo) evoluíram para IRC classe IV, com idade média de15 ± 4 anos. Conclusões: A presença de hematúria macroscópica e o aparecimento de perda auditiva neuro-sensorial e proteinúria nefrótica forampreditivos de evolução para IRC terminal.

Objective: To present the clinical course of children with Alport Syndrome and determine predictive factors for end stage renal failure. Material e Methods:Revision of charts of patients with Alport Syndrome diagnosed by electronic microscopy of kidney biopsies. Results: Twenty-two patients, from twentydifferent families, mean age of 7± 6.5 years, mean follow-up of 8±8 years were studied. The most frequent finding was macroscopic hematuria inassociation with familiar history of chronic renal failure followed by microscopic hematuria in conjunction with familiar history of hematuria. Nineteen patientshad weight and stature inside growth channel. Hypertension and anemia only were detected in patients that already had chronic renal failure. Neurosensorialhearing loss appeared at the mean age of 10 ± 4 years in 9/22, and all of them developed chronic renal failure (p=0.002). Nephrotic proteinuriaappeared when children were between 8 and 12 year-old, and only in patients that developed chronic renal failure (p=0.002). The mean of creatinineclearance in ages from 4 to < 8 years, 8 to <12 years,12 to <16 years, and >= 16 yearswere respectively 123.0, 107.1, 84.8, and 69.7 ml/min/1.73 m2.Twelve patients (six of each sex) developed class IV chronic renal failure, at a mean age of 15 ± 4 years. Conclusion: Macroscopic hematuria, neurosensorialhearing loss and nephrotic proteinuria were predictable of progression to chronic renal failure in childhood.

Síndrome de epstein primer caso en la literatura nacional / Syndrome of epstein first case in of literature national

Presentamos el primer caso descrito en la literatura nacional de Síndrome de Epstein; el cual está caracterizado por la presencia de trombocitopatía de plaquetas gigantes, glomerulonefritis proliferativa (con hallazgos idénticos a la microscopia electrónica al Sindrome de Aiport) y sordera neurosensorial

Alport's syndrome--a case report.

Alport's syndrome (hereditary nephritis with deafness), is an uncommon disease and is seen very infrequently in India. We report a fatal case in a young girl with characteristic ultrastructural changes in the kidney thus emphasising the exception noted in the observation that females have a better prognosis compared to males.

Enfermedad de Alport y hematuria recidivante: estudio comparativo y revisión de la literatura / Alport disease and recurrent hematuria: comparative study and review of the literature

Se estudian 10 casos de nefropatías con patología de la membrana basal (M.B.), recibidas en la Fundación Jiménez Díaz. Seis corresponden a Enfermedad de Alport (EA), uno a Nefropatía Familiar Benigna (H.F.B.) y tres a Hematuria Recidivante (H.R.) no urológica. Se realiza una valoración clínico-evolutiva, y los hallazgos histológicos y ultraestructurales en ocho de ellos mediante Indices Morfológicos de actividad y cronicidad (valor númerico). Resultados: Encontramos engrosamiento predominante de la membrana basal en EA, excepto en uno de los casos que tuvo laminación extensa y poco compromiso de la función renal. La HFB mostró adelgazamiento extenso y uniforme (media de 213 nm., y espesor mínimo de 120 nm.). Las HR presentaron engrosamiento e irregularidades de la MB, ninguno presentó laminación y uno adelgazamiento y ruptura. Conclusiones: La relación encontrada con la función renal permite concluir que el Indice morfológico puede ser útil para la valoración de los pacientes con Nefropatías hereditarias, sobre todo, aquellas de naturaleza progresiva

Lenticone anterior na Síndrome de Alport: reabilitaçäo visual após facectomia extracapsular em cristalino transparente com implantaçäo de lente intra-ocular de câmara posterior / Anterior lenticonus in Alport's Syndrome: visual rehabilitation after clean lens extracapsular extraction with implantation of a posterior chamber intra-ocular lens

Descriçäo de caso de Síndrome de Alport, em paciente do sexo masculino de 23 anos de idade, com lenticone anterior no olho direito e catarata polar anterior no olho esquerdo, que foi visualmente reabilitado após extraçäo extracapsular com implantaçäo de lente intra-ocular de câmara posterior, em ambos os olhos

Asociación de criptorquidismo con nefritis hereditaria: estudio de tres generaciones de una familia puertorriqueña / Cryptorchidism associated with hereditary nephritis: a 3-generation study in a Puerto Rican family

Veintitrés miembros de una familia afectada por nefritis familiar fueron estudiados a lo largo de tres generaciones. La incidencia de manifestaciones auditivas, oculares y hematológicas fue baja. Se encontró que cuatro de los pacientes del sexo masculino con nefritis también presentaron criptorquidismo. En este reporte documentamos la ocurrencia no previamente registrada de criptorquidismo en asociación con la enfermedad de Alport. Se describen las características de la enfermedad en esta familia y se ofrece un repaso de la literatura sobre el tema

Manifestaciones oftalmológicas del síndrome de Alport / Ophthalmologics manifestations of Alport's syndrome

Se presenta un caso de síndrome de Alport, con presencia de lenticono anterior, retinitis pigmentosa atípica y sordera, con biopsia renal característica de nefritis hereditaria. Se discuten las características clínicas del síndrome, con énfasis en las manifestaciones oculares

Síndrome de Alport / Alport's syndrome

Os autores revisam o assunto "Síndrome de Alport" com atualizaçäo bibliográfica. Chamam a atençäo para a heterogeneidade das manifestaçöes clínicas e para a importância da microscopia eletrônica na confirmaçäo do diagnóstico e na contribuiçäo para o entendimento da sua patogênese