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Erken Dönemde Böbrek Yetmezliği ile Prezente Olan Denys Drash Sendromu
2018
Journal:  
Türkiye Çocuk Hastalıkları Dergisi
Author:  
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 presented with early kidney failure
2018
Journal:  
Türkiye Çocuk Hastalıkları Dergisi
Author:  
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:

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Türkiye Çocuk Hastalıkları Dergisi

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 1.066
Cite : 891
2023 Impact : 0.012
Details
Türkiye Çocuk Hastalıkları Dergisi