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儿童囊性肾病

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

引言

在多种儿童疾病中可发生肾囊肿(表 1)。囊肿可能是由于非遗传性胎儿畸形或遗传性疾病导致的，极少数可能是获得性的。囊肿也可能呈孤立性表现，或是某综合征的表现之一。

本文将总结不同类型的儿童囊性肾病。

非遗传性肾脏畸形

囊性肾脏发育不良是根据镜下特征定义的，是由胎儿肾的肾实质畸形导致的。因此，这种肾脏含有原始肾小管、囊肿及非肾脏组织，如软骨、脂肪和造血组织。(参见“肾脏和泌尿道先天异常(CAKUT)的概述”，关于‘肾实质畸形’一节)

虽然导致该病的非遗传性机制仍不清楚，但肾脏有丝分裂原表达的改变可能是肾实质分化异常的部分原因。例如，一项多囊性肾发育不良的研究发现，在胎儿早期和出生后阶段，胰岛素样生长因子和胰岛素样生长因子结合蛋白的表达在时间和空间上有显著改变[1]。这些变化在发病机制中的意义仍不明确。

囊性肾发育不良也经常与出生前的泌尿道梗阻有关，而后者可能与后尿道瓣膜或肾盂输尿管交界处(ureteropelvic junction, UPJ)梗阻有关。囊性肾发育不良通常见于萎缩的肾极，伴输尿管重复畸形或异位输尿管囊肿。

              

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Literature review current through: 2017-06 . | This topic last updated: 2016-09-15.
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