Liver involvement in children with ciliopathies

被引：34

作者：

Rock, N. ^{[1
]}

McLin, V. ^{[1
]}

机构：

[1] Univ Hosp Geneva, Dept Pediat, Swiss Ctr Liver Dis Children, CH-1205 Geneva, Switzerland

来源：

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY | 2014年 / 38卷 / 04期

关键词：

CONGENITAL HEPATIC-FIBROSIS; POLYCYSTIC KIDNEY-DISEASE; SINGLE-CENTER; CILIA; MECHANISMS; TRANSPLANTATION; OLIGOPHRENIA; EXPERIENCE; ATAXIA;

D O I：

10.1016/j.clinre.2014.04.001

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Abnormalities in primary cilia lead to diseases called ciliopathies. Multiple organ involvement is the norm since primary cilia are present in most cells. When cholangiocyte cilia are abnormal, ductal plate malformation ensues leading to such conditions as congenital hepatic fibrosis, Caroli disease or syndrome, or other fibrocystic disease. (C) 2014 Elsevier Masson SAS. All rights reserved.

引用

页码：407 / 414

页数：8

共 37 条

[11]

Gentile M, 1996, AM J MED GENET, V64, P514, DOI 10.1002/(SICI)1096-8628(19960823)64:3<514::AID-AJMG13>3.0.CO

[12]

2-O

[13] The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia [J].

Gherman, Adrian ;

Davis, Erica E. ;

Katsanis, Nicholas .

NATURE GENETICS, 2006, 38 (09) :961-962

[14] Autosomal recessive polycystic kidney disease: The clinical experience in North America [J].

Guay-Woodford, LM ;

Desmond, RA .

PEDIATRICS, 2003, 111 (05) :1072-1080

[15]

Gunay-Aygun M, 2008, GENEREVIEWS, P1993

[16] Mechanisms of Disease: Ciliopathies [J].

Hildebrandt, Friedhelm ;

Benzing, Thomas ;

Katsanis, Nicholas .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (16) :1533-1543

[17] Isolation and characterization of cholangiocyte primary cilia [J].

Huang, Bing Q. ;

Masyuk, Tatyana V. ;

Muff, Melissa A. ;

Tietz, Pamela S. ;

Masyuk, Anatoliy I. ;

LaRusso, Nicholas F. .

AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY, 2006, 291 (03) :G500-G509

[18]

Jorgensen M J, 1977, Acta Pathol Microbiol Scand Suppl, P1

[19] Pediatric liver transplantation for fibropolycystic liver disease [J].

Ko, Jae Sung ;

Yi, Nam-Joon ;

Suh, Kyung Suk ;

Seo, Jeong Kee .

PEDIATRIC TRANSPLANTATION, 2012, 16 (02) :195-200

[20] A systems-biology approach to understanding the ciliopathy disorders [J].

Lee, Ji Eun ;

Gleeson, Joseph G. .

GENOME MEDICINE, 2011, 3

← 1 2 3 4 →