Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia.
Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia.
复制标题
肝动脉发育不良中的眼前段和视网膜色素异常。
DOI：
10.1016/s0161-6420(81)35026-x
复制
发表时间：
1981
期刊：
影响因子：
13.7
通讯作者：
Cotlier,E
中科院分区：
文献类型：
--
作者：
Puklin,JE;Riely,CA;Simon,RM;Cotlier,E
肝动脉发育不良（AHD，Alagille综合征）被认为是六种已知的家族性肝内胆汁淤积综合征之一，所有这些综合征都表现为新生儿黄疸或发育不良，或两者兼而有之。正确的综合征的早期诊断是重要的，因为肝动脉发育不良预后良好，而其他综合征通常导致婴儿期或成年早期死亡。在我们的五个病人中均发现了后胚胎毒素，这可能是这种综合征的标志之一。Axenfeld异常存在于3/5例患者中，视网膜色素异常存在于4/5例患者中。在心血管系统、骨骼、中枢神经系统、肾脏、内分泌系统和体型中发现了各种异常。遗传可能是常染色体显性遗传，因为在一个家庭中记录了垂直传播。肝功能在生命的前五年改善，因此只有眼睛和骨骼体征可能存在于成年人中。
Arteriohepatic dysplasia (AHD, Alagille's syndrome) is presumed to be one of the six known familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both. Accurate early diagnosis of the proper syndrome is important, as arteriohepatic dysplasia has a good prognosis, whereas the other syndromes usually lead to death in infancy or early adulthood. Posterior embryotoxon was found in all five of our patients and may be one of the hallmarks of this syndrome. Axenfeld's anomaly was present in three of five patients, and retinal pigmentary abnormalities were found in four of five patients. Variable abnormalities were found in the cardiovascular system, bones, central nervous system, kidneys, endocrine system, and body habitus. Inheritance may be autosomal dominant as vertical transmission was documented in one family. Liver function improves during the first five years of life so that only the ocular and skeletal signs may be present in adults.