Denys–Drash syndrome

The Denys - Drash syndrome refers to a rare, sporadically occurring disease with the triad of severe genital malformations ( pseudohermaphroditism ), malignant, embryonal kidney tumor Wilms' tumor and overgrowth of connective tissue cells in the renal corpuscles ( Mesangiosklerose ) with premature renal failure. It was first described in 1967 in the francophone countries by the French pediatrician P. Denys. Irrespective of this, there was a similar description, three years later by A. Drash. Overall, about 150 cases of this disease have been published.

Cause

In most patients, a dominant mutation in exon 8, or 9 of a gene was found which also predisposed for Wilms' tumor, the WT1 gene. This gene encodes a zinc finger protein that is likely a transcription factor plays a critical role in the development of the urogenital tract. Since these are new mutations in the rule, the risk of recurrence is extremely low.

Symptoms

In addition to directly manifest after birth malformations of the external genitalia affected children develop a special connective tissue proliferation in the glomeruli, the so-called mesangial cells. This diffuse Mesangiosklerose ( DMS) leads to a considerable loss of protein in the urine, with the result of nephrotic syndrome. Since this does not respond to the usual treatment with cortisone, the children from one to four years after suffering chronic renal failure. A malignant tumor originating from embryonic tissue remnants of the kidney ( nephroblastoma or Wilms tumor ) may be the first symptom of the syndrome.

Therapy

A causative treatment is not possible. Therefore, the treatment consists of supportive measures such as adequate nutrition, prevention of and treatment of infections and symptomatic treatment of kidney problems. The usual drugs can not affect the protein loss through the kidneys. In eingetretenem renal failure a kidney transplant is possible, however, since a transplanted kidney does not carry the mutation and is spared from the disease.