[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports].
Denys-Drash syndrome is a rare symptom complex associated with obligatory childhood nephrotic syndrome, male pseudohermaphroditism, and Wilms' tumor. The etiology of Denys-Drash syndrome is attributed to a mutation of the WT1 gene. We report on two cases of Deny-Drash syndrome confirmed by genetic testing. Rapidly evolving terminal renal insufficiency was detected in both patients necessitating bilateral nephrectomies with prophylactic intent. In one of the patients, a Wilms' tumor had already been verified in one kidney so that chemotherapy had to be initiated.The risk of Wilms' tumor is very high in patients with a WT1 mutation, which leads to the need for removal of both kidneys during or before transplantation. It would be important to perform a diagnostic work-up for WT1 gene mutation in children who develop renal failure in the 1st year of life.
Zugor
V
V
Urologische Klinik mit Poliklinik, Friedrich-Alexander-Universität, Erlangen-Nürnberg. vahudin.zugor@uro.imed.uni-erlangen.de
Zenker
M
M
Dötsch
J
J
Schrott
K M
KM
Schott
G E
GE
D030321:Denys-Drash Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D025721:WT1 Proteins / Q000235:genetics*
D025721:WT1 Proteins