Polycystic kidney disease.
Polycystic kidney disease.
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DOI：
10.1146/annurev.med.60.101707.125712
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发表时间：
2009
影响因子：
10.5
通讯作者：
Torres VE
中科院分区：
文献类型：
--
作者：
Harris PC;Torres VE
肾囊肿的病因有哪些？最常见的形式，常染色体显性多囊肾病（ADPKD），是一种最常在成人中诊断的疾病，由PKD 1或PKD 2突变引起。PKD 1蛋白，多囊蛋白-1，是一个大的受体样蛋白，而多囊蛋白-2是一个瞬时受体电位通道。多囊蛋白复合物定位于初级纤毛，并可作为维持肾脏和胆道中上皮内衬小管的分化状态所必需的机械传感器。阐明有缺陷的细胞过程突出了潜在的治疗方法，其中一些正在临床试验中进行测试。ARPKD是PKD的新生儿形式，与肾脏增大和胆管发育不全相关。该疾病的表型是高度可变的，从新生儿死亡到后期表现为轻微的肾脏疾病。ARPKD是由PKHD 1突变引起的，两个截短突变与新生儿致死性相关。ARPKD蛋白纤维囊蛋白定位于纤毛/基体并与多囊蛋白-2复合。PKD的罕见综合征形式还包括眼睛、中枢神经系统、手指和/或神经管的缺陷，并突出纤毛和途径如Wnt和Hh在其发病机制中的作用。
A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to primary cilia and may act as a mechanosensor essential for maintaining the differentiated state of epithelia lining tubules in the kidney and biliary tract. Elucidation of defective cellular processes has highlighted potential therapies, some of which are now being tested in clinical trials. ARPKD is the neonatal form of PKD and is associated with enlarged kidneys and biliary dysgenesis. The disease phenotype is highly variable, ranging from neonatal death to later presentation with minimal kidney disease. ARPKD is caused by mutation in PKHD1, and two truncating mutations are associated with neonatal lethality. The ARPKD protein, fibrocystin, is localized to cilia/basal body and complexes with polycystin-2. Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis.
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影响因子：
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