Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028961 (oliguria)
 1,847 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Denys-Drash syndrome is a rare disorder consisting of pseudohermaphrodism, Wilms' tumor and nephropathy. We describe here a boy with severe hypospadias and undescended testes, who presented with end-stage renal failure at the age of 1 year and 8 months when he was referred to our hospital. Emergency hemodialysis was performed because of oliguria, edema and severe hypertension, and then peritoneal dialysis was started. The findings of the renal biopsy showed diffuse mesangial sclerosis, consistent with the characteristic change in Denys-Drash syndrome. The analysis of WT1 gene revealed a G-to-A point mutation at 1,186 resulting in a change from Asp to Asn at 396 in exon 9. Since he had no urine output and his kidneys were not functional and in addition, patients with this mutation have been reported to have a high risk of Wilms' tumor, bilateral nephrectomy was performed. The removed kidneys showed no malignancies. Since Denys-Drash syndrome is frequently associated with Wilms' tumor, renal biopsy and gene analysis should be performed on male patients with gonadal anomaly, such as hypospadias and/or undescended testes, and proteinuria.
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PMID:[A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy]. 1268 Mar 20

Denys-Drash syndrome is characterized by progressive nephropathy, gonadal dysgenesis, and Wilms tumor caused by a WT1 gene mutation. Infants with Denys-Drash syndrome frequently experience severe hypertension, but detailed clinical manifestations have yet to be clarified. Cases of infantile-onset Denys-Drash syndrome with severe hypertension at our hospital were retrospectively analyzed and the pathogenesis of hypertension was investigated. Six infants who received the diagnosis of Denys-Drash syndrome at the median age of 10 days (range: 2-182 days) were enrolled. Five infants had the complication of severe hypertension within a few days of diagnosis. All the patients showed rapid progression to end-stage renal disease and urgently required dialysis due to anuria/oliguria and hypervolemia with a median duration of 7.5 days (range: 0-17 days) on the day after diagnosis. Even under dialysis, all the patients continued to need antihypertensive treatment. Five patients underwent a preventive nephrectomy for Wilms tumor, and one patient underwent a nephrectomy due to progression to Wilms tumor. Two patients developed hypotension after a nephrectomy. The main causes of hypertension were hypervolemia in the predialysis stage, renin-associated hypertension in the dialysis stage, and multiple factors, including increased plasma catecholamine-associated hypertension in the postnephrectomy dialysis stage. At last the follow-up after bilateral nephrectomy, four of the five patients required antihypertensive treatment. Not all the patients showed target organ complications caused by hypertension. Severe hypertension is a common complication of infantile-onset Denys-Drash syndrome. The possibility of hypotension after nephrectomy should be considered in patients with Denys-Drash syndrome.
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PMID:Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome. 3286 38