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首页> 外文期刊>European journal of pediatrics >Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome
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Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome

机译：单发双胞胎并发先天性肾病综合征的家庭中新的WT1基因突变的不一致表达

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摘要

Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female monozygotic twins with CNS presenting at 7 and 8 weeks of age with anuric renal failure. Both twins were treated by peritoneal dialysis. Renal biopsy proved diffuse mesangial sclerosis. Genetic analysis detected a new heterozygote WT1 mutation R434P in both twins. One child developed a unilateral nephroblastoma. Both twins died because of complications of CNS (sepsis and extensive thrombosis of central venous system/sepsis and sudden heart failure) at ages 23 weeks/13.5 months, respectively. DNA analysis showed the same WT1 mutation in the father, who showed at his age of 41 years no clinical consequences of this mutation and no signs of DDS. In conclusion, we report the third family with monozygotic twins with DDS due to WT1 mutation. The DDS has very rapidly led to end-stage renal failure and death in both twins which is in striking contrast to the manifestation in their father.
机译：先天性肾病综合征（CNS）是一组异种疾病，其病因和预后不同。第一年出生的NS患者中有三分之二是由四个基因（NPHS1，NPHS2，WT1和LAMB2）的突变引起的。 WT1基因的突变可导致Denys-Drash综合征（DDS）。我们报告中枢神经系统的女性单卵双胞胎出现在7和8周龄的无尿肾功能衰竭。两名双胞胎均接受腹膜透析治疗。肾活检证实为弥漫性系膜硬化。遗传分析在两个双胞胎中检测到新的杂合子WT1突变R434P。一个孩子患了单侧肾母细胞瘤。这两对双胞胎分别因中枢神经系统并发症（败血症和中央静脉系统/脓毒症的广泛血栓形成和突发性心力衰竭）在23周/13.5个月时死亡。 DNA分析显示父亲患有相同的WT1突变，后者在41岁时没有显示该突变的临床后果，也没有DDS的迹象。总之，我们报告了由于WT1突变而导致DDS单卵双胞胎的第三个家族。 DDS非常迅速地导致了双胞胎的终末期肾衰竭和死亡，这与他们父亲的表现形成了鲜明的对比。

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