Division of Gastroenterology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
Gut Liver. 2010 Jun;4(2):258-61. doi: 10.5009/gnl.2010.4.2.258. Epub 2010 Jun 16.
Turner's syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner's syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) have rarely been reported in association with liver cirrhosis, but there have been no reports of PAVMs occurring in cryptogenic liver cirrhosis associated with Turner's syndrome. We report a case of PAVM that occurred in cryptogenic liver cirrhosis associated with Turner's syndrome.
特纳综合征是一种性染色体(例如,45,X 或 45,X/46,XX)的遗传疾病,表现为各种先天性异常。尽管特纳综合征有许多性腺外表现,且肝功能检查常伴有异常,但在韩国尚未报道过与特纳综合征相关的肝硬化。此外,肺动静脉畸形(PAVMs)与肝硬化相关的情况很少见,但也没有报道过与特纳综合征相关的特发性肝硬化并发 PAVMs 的情况。我们报告了一例特发性肝硬化伴特纳综合征的 PAVM 病例。