Síndrome de Alport: estudo de uma família

Abstract

Purpose: Alport{&}{#}039;s Syndrome is characterized by hereditary nephritis, usually associated with neurosensitve deafness (Alport, 1927) and ocular disease (Sohar, 1954). Thus we intended to analize manifestations of the syndrome in a family, regarding clinical and genetical aspects. Patients and method: Fifteen patients of the same family of which four had Alport´s syndrome were submitted to ophthalmologic examination. The examinations were performed at the Ophthalmologic Clinic of HGV/UFPI. Results: Four patients with Alport´s syndrome were revealed, of which three had moderate deafness, anterior lenticonus and chronic nephropathy, and one of them had renal disease alone. All the patients were white, male aged 12 to 25 years. The visual acuity of eyes with lenticonus varied between 20/50 and 20/100. Conclusions: The family analysis identified three confirmed cases and a suspected one, sugesting a pattern of X-linked recessive inheritance, and it was not possible to exclude autosomal dominant inheritance with incomplete penetrance. Objetivo: A s{í}ndrome de Alport caracteriza-se por nefropatia heredit{á}ria, geralmente associada {à} surdez neurossensorial (Alport, 1927) e altera{ç}{õ}es oculares (Sohar, 1954). Estudaram-se as manifesta{ç}{õ}es da s{í}ndrome em membros de uma mesma fam{í}lia, considerando aspectos cl{í}nicos e gen{é}ticos. Pacientes e M{é}todo: Foram submetidos a exame oftalmol{ó}gico quinze indiv{í}duos de uma fam{í}lia, dos quais quatro apresentavam s{í}ndrome de Alport. Os exames foram realizados na Cl{í}nica Oftalmol{ó}gica do Hospital Get{ú}lio Vargas - Universidade Federal do Piau{í} (HGV/UFPI). Resultados: Revelaram-se quatro indiv{í}duos afetados pela s{í}ndrome de Alport, dos quais tr{ê}s apresentavam surdez moderada, lenticone anterior bilateral e nefropatia cr{ô}nica, e um tinha manifesta{ç}{ã}o renal isolada. Todos os pacientes eram brancos, do sexo masculino, com idade entre 12 e 25 anos. A acuidade visual dos olhos com lenticone variou de 20/50 a 20/100. Conclus{õ}es: A an{á}lise da fam{í}lia identificou tr{ê}s casos confirmados e um suspeito, sugerindo padr{ã}o de heran{ç}a recessiva ligada ao X, n{ã}o sendo poss{í}vel afastar a heran{ç}a autoss{ô}mica dominante com penetr{â}ncia incompleta.