Nephronophthisis
Nephronophthisis
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DOI：
10.1038/ejhg.2008.238
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发表时间：
2009-04-01
影响因子：
5.2
通讯作者：
Sayer, John A.
中科院分区：
文献类型：
--
作者：
Simms, Roslyn J.;Eley, Lorraine;Sayer, John A.
肾病综合征(NPHP)是一种常染色体隐性遗传性肾病，以慢性肾小管间质肾炎为特征，可导致终末期肾功能衰竭。NPHP作为一个肾脏实体，经常是多系统疾病的一部分，并与许多综合征有关，包括Joubert综合征(和相关疾病)和High-Loken综合征。最近的分子遗传学进展使人们能够识别出几个与NPHP相关的基因。这些基因中的大多数在初级纤毛/基底体结构中表达它们的蛋白质产物，称为肾囊素。一些肾囊蛋白是粘着连接和粘着斑蛋白复合体的一部分。这一共同的定位表明，肾脏内常见的致病机制是这种疾病的基础。功能研究表明，肾囊素参与了平面细胞极性通路，这可能对肾脏的发育和肾小管结构的维持至关重要。
Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome. Recent molecular genetic advances have allowed identification of several genes underlying NPHP. Most of these genes express their protein products, named nephrocystins, in primary cilial/basal body structures. Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes. This shared localization suggests that common pathogenic mechanisms within the kidney underlie this disease. Functional studies implicate nephrocystins in planar cell polarity pathways, which may be crucial for renal development and maintenance of tubular architecture.