Liver and kidney disease in ciliopathies.
Liver and kidney disease in ciliopathies.
复制标题
DOI：
10.1002/ajmg.c.30225
复制
发表时间：
2009-11-15
影响因子：
3.1
通讯作者：
Gunay-Aygun, Meral
中科院分区：
文献类型：
--
作者：
Gunay-Aygun, Meral
关键词：
肝肾纤维囊性疾病(HRFCDs)是人类最常见的遗传性疾病。在常染色体显性和隐性多囊肾病(ADPKD和ARPKD)中发现的缺陷蛋白定位于原发纤毛，并认识到这些细胞器在HRFCDs的发病机制中所起的作用，从而产生了“纤毛疾病”一词。虽然ADPKD和ARPKD是与肝脏和肾脏疾病相关的最常见的纤毛疾病，但不同程度的肾脏和/或肝脏受累也可见于许多其他纤毛疾病，包括Joubert、Bardet-Biedl、Meckel-Gruber和口腔-面部-指端综合征。胆管板畸形(DPM)是肝门胆管系统的发育异常，是以先天性肝纤维化(CHF)、Caroli综合征(CS)和多囊肝病(PLD)为主要表现的纤毛疾病的基础。在纤毛病变相关的肝病中，肝细胞功能相对保持完好。与CHF相关的主要发病率是门脉高压(PH)，通常导致食道静脉曲张和脾功能亢进。此外，CD易导致胆管炎复发。PLD通常不与PH相关，但可能会因团块效应而导致并发症。纤毛疾病的肾脏病理范围从无功能的囊性发育不良肾脏到孤立的尿液浓缩缺陷；导致这种病理的疾病除了ADPKD和ARPKD之外，还包括肾嗜酸粒细胞增多症(NPHP)、肾小球疾病和髓质海绵肾。尿浓缩能力下降，导致多尿和多饮，是纤毛疾病的第一个也是最常见的肾脏症状。虽然大多数ADPKD、ARPKD和NPHP患者需要肾移植，但在其他纤毛疾病中进展为肾功能衰竭的频率和速度差别很大。本文就不同纤毛病变中发现的肾脏和肝脏疾病作一综述。
Hepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the term “ciliopathies.” While ADPKD and ARPKD are the most common ciliopathies associated with both liver and kidney disease, variable degrees of renal and/or hepatic involvement occur in many other ciliopathies, including Joubert, Bardet–Biedl, Meckel–Gruber, and oral–facial–digital syndromes. The ductal plate malformation (DPM), a developmental abnormality of the portobiliary system, is the basis of the liver disease in ciliopathies that manifest congenital hepatic fibrosis (CHF), Caroli syndrome (CS), and polycystic liver disease (PLD). Hepatocellular function remains relatively preserved in ciliopathy-associated liver diseases. The major morbidity associated with CHF is portal hypertension (PH), often leading to esophageal varices and hypersplenism. In addition, CD predisposes to recurrent cholangitis. PLD is not typically associated with PH, but may result in complications due to mass effects. The kidney pathology in ciliopathies ranges from non-functional cystic dysplastic kidneys to an isolated urinary concentration defect; the disorders contributing to this pathology, in addition to ADPKD and ARPKD, include nephronophithisis (NPHP), glomerulocystic kidney disease and medullary sponge kidneys. Decreased urinary concentration ability, resulting in polyuria and polydypsia, is the first and most common renal symptom in ciliopathies. While the majority of ADPKD, ARPKD, and NPHP patients require renal transplantation, the frequency and rate of progression to renal failure varies considerably in other ciliopathies. This review focuses on the kidney and liver disease found in the different ciliopathies.
登录
查看更多内容
影响因子：
7.1
作者：
Brun, M;Maugey-Laulom, B;Avni, EF
通讯作者：
Avni, EF
DOI：
10.1002/ajmg.1320260218
发表时间：
1987-02-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BERNSTEIN, J;CHANDRA, M;WYBEL, RE
通讯作者：
WYBEL, RE
影响因子：
30.8
作者：
Drenth, JPH;Morsche, RHMT;Jansen, JBMJ
通讯作者：
Jansen, JBMJ
影响因子：
5.1
作者：
ALVAREZ, F;BERNARD, O;ALAGILLE, D
通讯作者：
ALAGILLE, D
影响因子：
3
作者：
Capisonda, R;Phan, V;Guay-Woodford, LM
通讯作者：
Guay-Woodford, LM