Nephronophthisis
Nephronophthisis
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DOI：
10.3233/pge-14086
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发表时间：
2014-06-01
影响因子：
0.4
通讯作者：
Sayer, John A.
中科院分区：
文献类型：
--
作者：
Srivastava, Shalabh;Sayer, John A.
肾病（NPHP）是一种儿童囊性肾病，几乎总是导致终末期肾病的影响。识别和诊断需要临床怀疑，生化评价，肾成像和历史，肾活检。现代分子遗传学现在允许在很大比例的病例中进行诊断。NPHP1突变占病例的20%，但该疾病具有遗传异质性，至少有20种不同的基因与NPHP相关。遗传学和蛋白质组学领域的最新发展使人们对潜在的致病缺陷有了更多的了解。几乎所有的NPHP基因编码的蛋白质，定位于初级纤毛，基体和中心体。因此，NPHP被认为是一种睫状体病，并且可以是包括肾外表现的广谱临床疾病的一部分，所述肾外表现包括视网膜变性、小脑共济失调、肝纤维化和内脏逆位。在这篇综述中，我们讨论了NPHP的历史描述的背景下，在我们对这种疾病的理解最近的事态发展。
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy. Modern molecular genetics now allows a diagnosis to be made in a significant proportion of cases. Mutations in NPHP1 account for 20% of cases, but the disease is genetically heterogeneous with at least 20 different genes associated with NPHP. Recent developments in the fields of genetics and proteomics have led to increased understanding of the underlying pathogenetic defects. Almost all NPHP genes encode proteins, which localize to the primary cilia, basal body and centrosome. NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration, cerebellar ataxia, liver fibrosis and situs inversus. In this review, we discuss the historical descriptions of NPHP in the context of more recent developments in our understanding of this disease.