Denys–Drash syndrome

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

Denys–Drash syndrome (DDS) or Drash syndrome is very rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy and Wilms tumor.

Etiology[edit]

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.[1]

Presentation and clinical course[edit]

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.

History[edit]

P.Denys[2] and Allan L. Drash[3] first described the syndrome.

See also[edit]

External links[edit]

References[edit]

  1. ^ da Silva TE, Nishi MY, Costa EM, et al. (August 2011). "A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome". Pediatr. Nephrol. 26 (8): 1311–5. doi:10.1007/s00467-011-1847-4. PMID 21559934. 
  2. ^ 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]". Arch. Fr. Pediatr. (in French) 24 (7): 729–739. PMID 4292870. 
  3. ^ 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.