Denys-Drash Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Denys-Drash syndrome refers to a rare, sporadically occurring disease with the triad of severe genital malformations ( pseudohermaphroditism ), malicious, embryonic kidney tumor Wilms tumor and overgrowth of connective tissue cells in the glomeruli (Mesangiosklerose) with early kidney failure. It was first described in 1967 in the francophone-speaking area by the French pediatrician P. Denys. Independently of this, a similar description was made three years later by A. Drash. A total of about 150 cases with this clinical picture have been published.
root cause
In most patients, a dominant mutation was found in exon 8 or 9 of a gene that also predisposes to a Wilms tumor, the WT1 gene. This gene codes for a zinc finger protein which , as a transcription factor , probably plays a decisive role in the development of the urogenital tract. Since these are usually new mutations, the risk of repetition is extremely low.
Symptoms
In addition to obvious malformations of the external genitals immediately after birth, the affected children develop an increase in special connective tissue cells in the kidney corpuscles, the so-called mesangium cells. This diffuse mesangiosclerosis (DMS) leads to a considerable loss of protein via the urine , resulting in a nephrotic syndrome . Since this does not react to the usual treatment with cortisone , the children suffer from chronic kidney failure after one to four years . A malignant tumor that originates from embryonic tissue remnants of the kidney (nephroblastoma or Wilms tumor) can be the first symptom of the syndrome.
Differential diagnosis
To be delimited is u. a. the Frasier syndrome .
therapy
A causal treatment is not possible. Therapy therefore consists of supportive measures such as adequate nutrition, prevention and treatment of infections and symptomatic treatment of kidney problems. The usual drugs cannot influence the protein loss via the kidneys. If kidney failure has occurred, a kidney transplant is possible, since a transplanted kidney does not carry the mutation and is spared the disease.
literature
- P. Denys, P. Malvaux, H. van den Berghe, W. Tanghe, W. Proesmans: Association d'un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX / XY. In: Arch. Franc. Pediatrician. 24, 1967, pp. 729-739. PMID 4292870
- A. Drash, F. Sherman, WH Hartmann, RM Blizzard: A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. In: J. Pediat. 76, 1970, pp. 585-593. PMID 4316066
