Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
Hepatology. 2017 Jul;66(1):286-288. doi: 10.1002/hep.29037. Epub 2017 May 9.
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).
一位 52 岁的患者出现淋巴水肿、蛋白丢失性肠病和硬化性胆管炎，并被诊断为淋巴水肿胆汁淤积综合征（LCS）。胆管镜检查显示扩张的淋巴管阻塞胆管，同时存在胶原和钙结合表皮生长因子结构域蛋白 1（CCBE1）突变的复合杂合性，明确了一种新型的 LCS。（《肝脏病学》2017；66：286-288）。
