Rina Rus, Department of Pediatric Nephrology, University Medical Centre, Bohoričeva 20, SI 1000 Ljubljana, Slovenia,
Croat Med J. 2021 Apr 30;62(2):187-191. doi: 10.3325/cmj.2021.62.187.
Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with nephrotic syndrome type 1, also known as Finnish-type CNS, which is inherited in an autosomal recessive manner. Symptomatic treatment with intravenous albumins, vitamins, minerals, nutritional, and hormonal supplementation and treatment of complications are mandatory. Children refractory to the symptomatic treatment are recommended to undergo nephrectomy and renal replacement therapy, preferably renal transplantation. We report on a child with Finnish type CNS with a NPHS1 mutation, which is the first case confirmed by genetic study in Slovenia. We showed for the first time that homozygous mutation c.2928-3del in the NPHS1 gene caused exon 22 skipping, leading to a truncated protein and Fin-minor phenotype.
先天性肾病综合征（CNS）是一种罕见疾病，定义为在生命的头三个月出现大量蛋白尿、低白蛋白血症、高脂血症和水肿。它最常由与肾病综合征 1 型相关的 NPHS1 基因突变引起，也称为芬兰型 CNS，呈常染色体隐性遗传方式。静脉注射白蛋白、维生素、矿物质、营养和激素补充以及治疗并发症是强制性的对症治疗。对于对对症治疗无反应的儿童，建议进行肾切除术和肾替代治疗，最好是肾移植。我们报告了一例斯洛文尼亚首例经基因研究证实的芬兰型 CNS 患儿。我们首次表明，NPHS1 基因中的纯合突变 c.2928-3del 导致外显子 22 跳跃，导致截短蛋白和 Fin-minor 表型。
