ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia

被引：17

作者：

Argyriou, L

Pfitzmann, R

Wehner, LE

Twelkemeyer, S

Neuhaus, P

Nayernia, K

Engel, W

机构：

[1] Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany

[2] Humboldt Univ, Charite, Virchow Clin, Dept Gen Visceral & Transplantat Surg, Berlin, Germany

来源：

LIVER TRANSPLANTATION | 2005年 / 11卷 / 09期

关键词：

D O I：

10.1002/lt.20544

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited disorder characterized by cutaneous and mucosal telangiectasias, epistaxis and arteriovenous malformations in lung, liver, central, nervous system, and gastrointestinal tract. Mutations in the genes for endoglin (ENG) and for activin A receptor type II-like kinase 1 (ALK-1) have been identified to be associated with HHT. Intrahepatic manifestation in HHT might lead to the requirement of liver transplantation. We report here on 6 liver transplanted patients and 2 who were scheduled for liver transplantation due to intrahepatic HHT, in whom both genes were sequenced. Mutation analysis revealed in all patients the presence of mutations in ALK-1. In conclusion, these results are of possible prognostic value concerning the need of liver transplantation in HHT patients.

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页码：1132 / 1135

页数：4

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