Department of Pediatrics, Fuzhou Dongfang Hospital, Fuzhou, Fujian, Peoples Republic of China.
Eur J Pediatr. 2013 Jan;172(1):127-9. doi: 10.1007/s00431-012-1770-0. Epub 2012 Jul 5.
Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS). Most patients with isolated NS caused by WT1 mutations present as 46, XX phenotypic females. There have been two cases with an onset age younger than 3 years with isolated NS caused by WT1 mutations presenting as 46, XY phenotypic males. We present a 46, XY phenotypic male patient with isolated NS and end-stage renal disease (ESRD) at the age of 6.3 years. He had normal male external genitalia with normal penis length and soft and normal volume of both testes. A mutation, 1051A>G (K351E), in exon 8 of WT1 was identified in the patient. After starting hemodialysis, manifestations of hypertension and renal failure improved, but he died at 6.8 years of age as a result of respiratory failure and heart failure. Our study supports the necessity of searching for mutations in WT1 in 46, XY phenotypic male patients with isolated NS and ESRD.
WT1 基因突变可导致 Denys-Drash 综合征或 Frasier 综合征，也可引起孤立性肾病综合征（NS）。大多数由 WT1 突变引起的孤立性 NS 患者表现为 46，XX 表型女性。有两例年龄小于 3 岁的 WT1 突变引起的孤立性 NS 表现为 46，XY 表型男性。我们报告了一例 6.3 岁 46，XY 表型男性孤立性 NS 和终末期肾病（ESRD）患者。他具有正常的男性外生殖器，阴茎长度正常，双侧睾丸柔软且体积正常。在该患者中发现 WT1 外显子 8 中的突变 1051A>G（K351E）。开始血液透析后，高血压和肾衰竭的表现得到改善，但他最终因呼吸衰竭和心力衰竭于 6.8 岁时死亡。我们的研究支持在 46，XY 表型男性孤立性 NS 和 ESRD 患者中搜索 WT1 突变的必要性。
