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.

• Tác giả: Naohiro Fujita, Teruyuki Ishikura, Hajime Kimura, Takayoshi Miki, Takashi Naka, Tomohito Nakano, Hisae Sumi-Akamaru
• Ngôn ngữ: eng
• Thông tin xuất bản: Japan : Internal medicine (Tokyo, Japan) , 2025
• Bộ sưu tập: NCBI
• ID: 677170

Tóm tắt

 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).