CCBE1 Mutation Causing Sclerosing Cholangitis: Expanding the Spectrum of Lymphedema-Cholestasis Syndrome

作者：Viveiros Andre; Reiterer Marion; Schaefer Benedikt; Finkenstedt Armin; Schneeberger Stefan; Schwaighofer Hubert; Moser Patrizia; Sprenger Rudolf; Glodny Bernhard; Vogel Wolfgang; Janecke Andreas R; Zoller Heinz^*

来源：Hepatology, 2017, 66(1): 286-288.

DOI：10.1002/hep.29037

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.

• 出版日期2017-7