Elmslie F V, Vivian A J, Gardiner H, Hall C, Mowat A P, Winter R M
Hospital for Sick Children, London, UK.
J Med Genet. 1995 Apr;32(4):264-8. doi: 10.1136/jmg.32.4.264.
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incidence of new mutations. To determine more accurately the rate of new mutations and to develop criteria for detecting the disorder in parents we systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmological assessment, and chromosome analysis. Six parents had typical anomalies in two or more systems pointing to the presence of autosomal dominant inheritance. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counselling.
阿拉吉耶综合征（AGS）是儿童慢性肝病的主要类型之一，发病率高，死亡率为10%至20%。其特征为不同程度的胆汁淤积、小叶间胆管稀少以及心血管系统、骨骼、眼睛和面部异常。先前的研究表明该疾病的表现差异很大，新突变发生率很高。为了更准确地确定新突变率并制定在父母中检测该疾病的标准，我们系统地调查了14个有患病子女家庭的父母。通过肝功能检查、超声心动图、脊柱和前臂的影像学检查、眼科评估以及染色体分析对临床检查进行补充。六位父母在两个或更多系统中存在典型异常，提示存在常染色体显性遗传。对父母进行本研究定义特征的系统筛查应能提高遗传咨询的准确性。
