[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome]
until further notice
SourceNederlands Tijdschrift voor Geneeskunde, 149, 31, (2005), pp. 1751-1755
Article / Letter to editor
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Nederlands Tijdschrift voor Geneeskunde
SubjectIGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 5: Health aging / healthy living; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; NCEBP 14: Cardiovascular diseases; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 1.5: Interventional oncology; UMCN 5.4: Renal disorders
In a 17-year-old woman with absent sexual development and a congenital nephrotic syndrome leading to renal failure, the Denys-Drash syndrome was diagnosed after development of an ovarian dysgerminoma. The Denys-Drash syndrome is characterised by the triad: progressive nephropathy due to diffuse mesangial sclerosis, male pseudo-hermaphroditism (XY karyotype with ambiguous or female genital organs) and an increased risk of developing Wilms' tumour and gonadoblastoma. The syndrome is generally caused by a genetic defect in the Wilms' tumour suppressor 1 gene (WT1 gene). A WT1 mutation and XY karyotype were also found in this patient. The WT1 gene encodes a transcription factor playing an important role in renal and genital development. The diagnosis of Denys-Drash syndrome had important consequences for the follow-up and treatment of the patient. The second gonad and the native kidneys were removed due to the increased risk of malignancy. Moreover, the finding of a XY karyotype could result in serious psychic problems. Physicians responsible for the health of adults are confronted more and more often with the consequences of childhood diseases. This case illustrates the necessity to inform such physicians about previously untreatable genetic diseases of childhood so that the adequate medical management of these patients can be guaranteed.
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