Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.
Paediatric Renal Unit, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Fetal Pediatr Pathol. 2021 Apr;40(2):113-120. doi: 10.1080/15513815.2019.1686788. Epub 2019 Nov 9.
: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS).: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress.
: Denys-Drash 综合征（DDS）由性反转、Wilms 瘤和肾病三联征组成。该疾病可完全表现为三联征，或不完全表现为三联征，或仅表现为上述特征之一或几种特征的组合。DDS 的特征性肾小球异常为弥漫性系膜硬化症（DMS）。: 我们报告了两例 DDS 伴局灶性膜增生性肾小球肾炎（MPGN）。我们的两个病例均为男性，具有生殖器模糊。他们均在 WT1 exon9 存在相同的杂合性种系突变，c.1180C>T，p.R394W；这是 DDS 的一个已知突变热点。病例 1 在 4 岁时出现肾病，病例 2 在 2.5 岁时出现肾病，进展为终末期肾衰竭的速度不同。结论：我们的发现与其他报道相结合，说明了 DDS 的临床病理异质性。由于无法准确预测受影响个体的进展，因此针对 DDS 患者的最佳管理尚无普遍建议。
