[Drash's syndrome and its variants. A report of 3 cases]

Abstract

Three cases of Drash syndrome (DS) are presented. Two of them were 2 years old, the third one a newborn. Two are autopsy cases, one of the patients is alive. All three of them had nephrotic syndrome and renal failure, with mesangial sclerosis. All three had ambiguous genitalia, abdominal testes with variable degrees of dysgenesis and bilateral gonadoblastoma. Two cases had 46XY karyotype, in one case it was not performed. Two patients had nephroblastoma, one of them after several months of nephropathy, in the other it was the cause of consultation. The patient without nephroblastoma died at the age of 26 days with renal failure. We think that the original triad of DS: nephroblastoma, pseudohermaphroditism and nephropathy should be more precisely described and expanded to include related alterations in each one of its 3 elements: nephroblastomatosis, hamartomas, probably mesoblastic nephroma and pyelocaliceal malformations in addition to Wilms' tumor, variable disorders of sexual differentiation, gonadal dysgenesis and neoplasia, in addition to pseudohermaphroditism and superficial cortical renal dystrophy and increased reniculi, in addition to mesangial sclerosis. The various clinical forms of the syndrome are combinations of the triad in which a component can be missing and/or other related malformations be present. Chromosome anomalies are possibly responsible for this phenomena. Splitting into separate syndromes should not be done until the chromosome alterations and the regions and genes involved are identified.