Denys–Drash syndrome

Denys–Drash syndrome
Classification and external resources
OMIM	194080
DiseasesDB	31499
eMedicine	ped/564
MeSH	C04.557.435.595.220

Denys-Drash syndrome is a syndrome characterized by the following conditions:

• gonadal dysgenesis
• nephropathy
• Wilms tumor

Denys-Drash Syndrome (DDS) is a very rare disorder.

Etiology

The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene). These abnormalities include changes in certain exons (9 and 8) and mutations in some alleles of the WT1 gene. Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, is on chromosome 11 (11p13). These mutations are usually found in exons 8 or 9 but at least one has been reported in exon 4.

Presentation and clinical course

The presenting characteristics of DDS include loss of playfulness, decreased appetite, weight loss, growth delay, abnormal skeletal development, insomnia, abdominal pain, constipation, and anuria.

Clinically, Denys-Drash is characterized by the triad of pseudohermaphroditism, mesangial renal sclerosis, and Wilms tumor. The condition first manifests as early nephrotic syndrome and progresses to mesangial renal sclerosis and ultimately renal failure, usually within the first three years of life.

See also

• WAGR syndrome
• Wilms' tumor

External links

• 00527 at CHORUS

References

• Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967). "[Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism]" (in French). Arch. Fr. Pediatr. 24 (7): 729–739. PMID 4292870. 
• Drash A, Sherman F, Hartmann WH, Blizzard RM (1970). "A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease". J. Pediatr. 76 (4): 585–593. doi:10.1016/S0022-3476(70)80409-7. PMID 4316066.