Erken Dönemde Böbrek Yetmezliği ile Prezente Olan Denys Drash Sendromu

Abstract

Denys Drash Sendromu (DDS); konjenital veya infantil nefropati (mezenşiyal skleroz), Wilms Tümörü, genitoüriner malformasyon ile karakterize bir hastalıktır. Birçok DDS hastası Wilms tümör süpressör geninde (WT1) ekzon 8 ve 9’da mutasyon taşımaktadır. Burada, WT1 geninde ekzon 9’da missense mutasyon taşıyan ve erken dönemde böbrek yetmezliği ve nefrotik sendrom kliniği ile başvuran bir DDS olgusu sunulmaktadır.

Keywords

• Denys Drash sendromu, Genitoüriner malformasyon, İnfantil, Nefropati

Denys Drash Syndrome Presenting with Renal Failure in the Early Period

Abstract

Denys–Drash Syndrome (DDS) is characterized by the triad of congenital or infantile nephropathy (mesangial sclerosis), urogenital malformation and Wilms tumor. Most DDS patients carry WT1 mutations in exon 8 or 9. Here, we report a case of DDS who carried the WT1 missense mutation in exon 9 and presented with early chronic kidney disease and nephrotic syndrome

Keywords

• Denys–Drash syndrome, Urogenital malformation, İnfantile, Nephropathy

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