Clinical and pathological characteristics of Alagille syndrome in Chinese children
Clinical and pathological characteristics of Alagille syndrome in Chinese children
复制标题
中国儿童Alagille综合征的临床病理特征
DOI：
10.1007/s12519-008-0051-5
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发表时间：
2008-11-01
影响因子：
8.7
通讯作者：
Zheng, Shan
中科院分区：
文献类型：
--
作者：
Wang, Jian-She;Wang, Xiao-Hong;Zheng, Shan
Alagille综合征（Alagille syndrome，AS）是西方国家儿童慢性胆汁淤积症最常见的病因，具有特殊的表型特征。本研究旨在探讨AS在中国儿童慢性胆汁淤积症的意义，并描述其临床和组织学特点，从2004年10月至2007年1月，157名儿童谁提出了与结合性黄疸，从不到3个月的年龄被收住在上海的三级医院。在排除胆道闭锁和家族性进行性肝内胆汁淤积1型或2型后，对13名1岁以上长期胆汁淤积的儿童进行了心脏、脊柱、眼睛和肾脏的检查。在小叶间胆管缺乏的患者中，如果存在以下5个主要特征中的3个或更多个，则诊断为AS：心脏杂音，后胚胎毒素，蝴蝶状椎骨，肾脏异常和特征性面孔。在没有小叶间胆管缺乏或谁没有接受肝活检的患者，4个或更多的功能是必需的diagnosis.ResultsOf 13个孩子，6被诊断为AS的年龄范围从1年7个月到3年11个月。6例患儿均在婴儿早期出现黄疸，随后出现瘙痒，其中5例表现为无胆便，4例经肝胆管造影或腹腔镜胆道造影误诊为胆道闭锁。生化检查显示总胆汁酸浓度升高和高脂血症。5例肝活检病理证实小叶间胆管狭窄。6例患者均有椎体畸形、心脏杂音、特征性面容及发育不良。2例患者有肾脏受累的证据。1例出现小阴茎、空阴囊和胆囊结石。结论AS也是我国儿童胆汁淤积症的重要原因。AS与胆道闭锁鉴别困难。肝活检和脊柱X线检查有助于AS的早期诊断。
BackgroundAlagille syndrome (AS) is regarded as the most common cause of chronic cholestasis in childhood associated with specific phenotypic features in western countries. This study was undertaken to investigate the significance of AS in Chinese children with chronic cholestasis and to describe its clinical and histological features.MethodsFrom October 2004 to January 2007, 157 children who presented with conjugated jaundice from less than 3 months of age were admitted to a tertiary hospital in Shanghai. Investigations of the heart, spine, eyes and kidneys were conducted in 13 children who experienced prolonged cholestasis beyond 1 year of age after exclusion of biliary atresia and familial progressive intrahepatic cholestasis type 1 or 2. In patients with interlobular bile duct paucity, AS was diagnosed if 3 or more of the following 5 major features were present: cardiac murmur, posterior embryotoxon, butterfly-like vertebrae, renal abnormalities and characteristic faces. In patients without interlobular bile duct paucity or who did not receive liver biopsy, 4 or more features were required for the diagnosis.ResultsOf the 13 children, 6 were diagnosed with AS at ages ranging from 1 year and 7 months to 3 years and 11 months. Jaundice was noticed in early infancy and then pruritus developed in all the 6 patients, of whom 5 presented with acholic stool and 4 had been misdiagnosed as having presumed biliary atresia by hepatobiliary scintigraphy or laparoscopic cholangiography. Biochemical examinations demonstrated increased concentration of total bile acid and hyperlipidemia. Interlobular bile duct paucity was demonstrated histologically in 5 patients who received liver biopsy. Vertebral abnormalities, heart murmur, characteristic faces and failure to thrive were found in all the 6 patients. Two patients had evidence of renal involvement. Micropenis, empty scrotum, and gall stone were seen in 1 patient.ConclusionAS is also an important cause of prolonged cholestasis in Chinese children. It is difficult to differentiate AS from biliary atresia. Liver biopsy and spine X-ray may be helpful in the early detection of AS.