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一名携带ACVRL1基因新突变的患者，患有遗传性出血性毛细血管扩张症，表现为反复鼻出血、毛细血管扩张、肝动静脉畸形及大脑中动脉发育不良。

Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene.

作者信息

Miki Takayoshi, Ishikura Teruyuki, Fujita Naohiro, Nakano Tomohito, Kimura Hajime, Sumi-Akamaru Hisae, Naka Takashi

机构信息

Department of Neurology, Higashiosaka City Medical Center, Japan.

Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Japan.

出版信息

Intern Med. 2025 Feb 1;64(3):477-480. doi: 10.2169/internalmedicine.3485-24. Epub 2024 Jul 4.

DOI:10.2169/internalmedicine.3485-24
PMID:38960693
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11867738/
Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder characterized by intractable epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVMs) in multiple organs, including the lungs, liver, gastrointestinal tract, brain, and spinal cord. We herein report a 50-year-old Japanese man with HHT who experienced recurrent epistaxis, telangiectasia in the cornea, apex of the tongue and fingers; hepatic AVM; and a poorly developed main arterial trunk in the right middle cerebral artery. A genetic analysis revealed a novel heterozygous mutation in the activin A receptor-like type 1 gene, with a frameshift mutation in NM_000020.3:c.826_836del (p.Ile276ProfsTer112).

摘要

遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性血管疾病，其特征为顽固性鼻出血、黏膜皮肤毛细血管扩张以及多器官（包括肺、肝、胃肠道、脑和脊髓）的动静脉畸形（AVM）。我们在此报告一名50岁的日本男性HHT患者，他反复出现鼻出血、角膜、舌尖和手指的毛细血管扩张；肝动静脉畸形；以及右大脑中动脉主干发育不良。基因分析显示激活素A受体样1型基因存在一种新的杂合突变，在NM_000020.3:c.826_836del（p.Ile276ProfsTer112）处有一个移码突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/f59471e18c23/1349-7235-64-0477-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/aa5f4e96990c/1349-7235-64-0477-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/ae44ee6c7fd9/1349-7235-64-0477-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/8a11d23dd1c7/1349-7235-64-0477-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/f59471e18c23/1349-7235-64-0477-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/aa5f4e96990c/1349-7235-64-0477-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/ae44ee6c7fd9/1349-7235-64-0477-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/8a11d23dd1c7/1349-7235-64-0477-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec8e/11867738/f59471e18c23/1349-7235-64-0477-g004.jpg

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