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先天性和婴儿性肾病综合征

Author
Patrick Niaudet, MD
Section Editor
Tej K Mattoo, MD, DCH, FRCP
Deputy Editor
Melanie S Kim, MD
Translators
王芳, 副主任医师，副教授

引言

先天性肾病综合征(congenital nephrotic syndrome, CNS)这一术语是指在出生时即存在或出生后最初3个月内发生的肾病综合征。较晚发生的(即发生于3个月到1岁之间)的肾病综合征称为婴儿性肾病综合征。这些患儿大多数具有该肾脏疾病的遗传学基础且结局较差。肾小球病变的精确诊断基于临床、实验室及组织学标准。

先天性和婴儿性肾病综合征的病因将将在此讨论。

病因

一项回顾性研究纳入了89例来自中欧和土耳其(来自于80个家庭)的于出生后第1年因肾病综合征而就诊的儿童，全部病例的2/3以及在出生后最初3个月发病的病例中多达85%的病例可用下列4种基因的突变来解释[1]：

●NPHS1基因编码nephrin蛋白(足细胞裂孔隔膜的关键组分)，NPHS1基因突变导致芬兰型先天性肾病综合征(congenital nephrotic syndrome of the Finnish type, CNF)。 (参见下文‘芬兰型先天性肾病综合征’)

●NPHS2编码podocin蛋白(一种在裂孔隔膜与nephrin相互作用的蛋白质)，NPHS2基因突变导致家族性局灶节段性肾小球硬化(focal segmental glomerulosclerosis, FSGS)。 (参见下文‘先天性肾病综合征和NPHS2突变’)

                       

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Literature review current through: 2017-06 . | This topic last updated: 2015-12-18.
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