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Professional Technical IVT

Denys–Drash Syndrome

Pronunciation: DEN-ee DRASH

Also written as: DDS

A WT1 germline mutation syndrome characterised by diffuse mesangial sclerosis leading to nephropathy, Wilms tumour predisposition, and disorders of sex development.

Full Definition

Denys–Drash syndrome (DDS) is caused by heterozygous missense mutations in the WT1 gene and presents with the triad of early-onset nephropathy (caused by diffuse mesangial sclerosis), Wilms tumour, and gonadal dysgenesis with disorders of sex development. Renal failure typically develops in the first years of life. DDS is strongly associated with intralobular nephrogenic rests. Editors should not conflate it with Frasier syndrome, which involves WT1 splice-site mutations and predominantly causes gonadoblastoma and focal segmental glomerulosclerosis. The hyphen in 'Denys–Drash' is an en dash (–), not a hyphen (-).

Usage

Usage note: Use an en dash between eponymous names (Denys–Drash), not a hyphen. Distinguish from Frasier syndrome in all edited documents.

In Context

  • "Renal biopsy in this infant with 46,XY disorder of sex development showed diffuse mesangial sclerosis, raising the possibility of Denys–Drash syndrome." — Paediatric nephropathology report
  • "The copy-editor corrected 'Denys-Drash' (hyphen) to 'Denys–Drash' (en dash) per journal style." — Proofreading log

Also known as

DDS Drash syndrome

Don't confuse with

Frasier syndrome WAGR syndrome isolated nephrotic syndrome

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