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A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy

机译：Denys-Drash综合征预防性双侧肾切除术一例

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摘要

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.
机译：Denys-Drash综合征是一种罕见的疾病，由假两性病，Wilms肿瘤和肾病组成。我们在这里描述一个患有严重尿道下裂和睾丸未降的男孩，当他被转诊到我院时，他在1岁零8个月时出现了终末期肾衰竭。由于少尿，水肿和严重高血压而进行了紧急血液透析，然后开始了腹膜透析。肾活检的结果显示为弥漫性肾小球膜硬化症，与Denys-Drash综合征的特征改变一致。 WT1基因的分析显示第1外显子9在1186处有一个G-to-A点突变，导致从Asp变为Asn。由于他没有尿液排出并且肾脏没有功能，此外，该突变的患者据报道，患威尔姆斯肿瘤的风险很高，因此进行了双侧肾切除术。取出的肾脏未显示恶性肿瘤。由于Denys-Drash综合征通常与Wilms的肿瘤有关，因此应该对男性性腺异常（如尿道下裂和/或睾丸未降以及蛋白尿）的患者进行肾脏活检和基因分析。

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