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From the Clinic

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Abstract

of hereditary haemorrhagic telangiectasia in a haemodialysis patient Hereditary haemorrhagic telangiectasia (HHT), or Osler– Weber–Rendu syndrome, is inherited in an autosomal-dominant fashion. There are two different forms of HHT: HHT type 1, caused by mutations in the endoglin gene, located in chromosome 9 (which encodes endoglin), and HHT type 2, caused by mutations in the gene encoding activin A receptor type II-like 1 (ALK1) on chromosome 12. Mucocutaneous telangiectasias, arteriovenous malformations, epistaxis, gastrointestinal bleeding and iron-deficiency anaemia are the commonest clinical manifestations of HHT [1]. Hepatic involvement, charac-terized by different arteriovenous malformations within the liver parenchyma, occurs in up to 74 % of patient

Year: 2016
OAI identifier: oai:CiteSeerX.psu:10.1.1.1006.5707
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