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芬兰型先天性肾病综合征在一名多米尼加新生儿中的表现:概述及病例报告。

Congenital Nephrotic Syndrome of the Finnish Type in a Dominican Newborn: An Overview and Case Report.

出版信息

Neonatal Netw. 2022 Mar 1;41(2):83-88. doi: 10.1891/11-T-745.

Abstract

Congenital nephrotic syndrome of the Finnish type (CNS-FT) is a rare genetic condition that causes massive proteinuria, hypoproteinemia, hypercholesterolemia, and edema that progresses to end-stage renal disease. Symptoms may manifest in utero as fetal hydrops or during the first few days to months of life. This article shares the case of a Dominican infant who presented with CNS-FT. It provides a comprehensive overview of CNS-FT including the underlying genetic cause, prenatal and postnatal diagnostic testing options, and treatment recommendations. It walks the reader through the diagnostic and initial and longer-term management of this infant and provides patient outcome at 10 months of age.

摘要

芬兰型先天性肾病综合征(CNS-FT)是一种罕见的遗传性疾病,可导致大量蛋白尿、低蛋白血症、高胆固醇血症和水肿,进而发展为终末期肾病。其症状可能在宫内表现为胎儿水肿,也可能在出生后几天至几个月内出现。本文报告了一例患有 CNS-FT 的多米尼加婴儿病例。本文全面概述了 CNS-FT,包括其潜在的遗传原因、产前和产后诊断检测选择以及治疗建议。本文通过该婴儿的诊断和初始及长期管理,为读者提供了相关指导,并介绍了该婴儿在 10 个月大时的预后情况。

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