Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes

被引:67
作者
Johnson, CA [1 ]
Gissen, P
Sergi, C
机构
[1] Univ Birmingham, Sch Med, Dept Paediat & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England
[2] Birmingham Childrens Hosp, Liver Unit, Birmingham B4 6NH, W Midlands, England
[3] Heidelberg Univ, Inst Pathol, D-6900 Heidelberg, Germany
[4] St Michaels Hosp, Dept Paediat Pathol, Bristol BS2 8EG, Avon, England
关键词
D O I
10.1136/jmg.40.5.311
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix. In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay. Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. We review recent molecular advances in the recessive HRFC syndromes and discuss this hypothesis.
引用
收藏
页码:311 / 319
页数:9
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