[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].
Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism and gonadal dysgenesis. It is caused by mutations in intron 9 of the WT1 gene. Because of its rarity there is limited literature available on the diagnosis and treatment of this syndrome. The aim of the study was to present the clinicopathological findings and molecular analysis of phenotypically female adolescent presenting with severe proteinuria and primary amenorrhea. The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome was discussed. WT1 mutation analysis should be routinely done in females with steroid-resistant nephritic syndrome.
Wasilewska
Anna
A
Uniwersytet Medyczny w Białymstoku, Klinika Pediatrii i Nefrologii. annwasil@interia.pl
Zoch-Zwierz
Walentyna
W
Tenderenda
Edyta
E
Rybi-Szumińska
Agnieszka
A
Kołodziejczyk
Zbigniew
Z
D000293:Adolescent; D002648:Child; D030321:Denys-Drash Syndrome / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D052159:Frasier Syndrome / Q000175:diagnosis* / Q000235:genetics*; D016162:Genes, Wilms Tumor; D006801:Humans; D009154:Mutation; D010641:Phenotype