Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome.
BACKGROUND
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a genetic disorder caused by a deletion of band 11p13, which results in the loss of 1 allele of the Wilms tumor suppressor gene (WT1). It is not classically associated with nephropathies, but increased rates of renal failure are reported. Denys-Drash syndrome (DDS), caused by mutations in the WT1 gene affecting the third or second zinc finger, is characterized by a triad of glomerulopathy progressing rapidly to end-stage renal disease, male hermaphroditism, and Wilms tumor. In patients with DDS, small glomeruli were observed.


METHODS
We reviewed histological findings of nontumoral kidney samples of 7 patients with WAGR syndrome at the time of tumor surgery.


RESULTS
Median glomerular diameter was 110 +/- 37 microm in patients with WAGR syndrome versus 125 +/- 18.5 microm in controls (P < 0.0001).


CONCLUSIONS
The presence of small glomeruli in patients with WAGR syndrome, as in those with DDS, suggests a specific defect of WT1 function in development and a specific role of WT1 allele loss in the development of renal failure in these patients.
Dahan
Karine
K
Department of Pathology, Hôpital Necker Enfants Malades, Université Paris V, Paris, France. karineydahan@yahoo.fr
Kamal
Maud
M
Noël
Laure Hélène
LH
Jeanpierre
Cécile
C
Gubler
Marie Claire
MC
Brousse
Nicole
N
Mariaud de Serre
Natacha Patey
NP
D030321:Denys-Drash Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007678:Kidney Glomerulus / Q000473:pathology*; D017624:WAGR Syndrome / Q000235:genetics / Q000473:pathology*; D025721:WT1 Proteins / Q000235:genetics
D025721:WT1 Proteins