A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

被引：1

作者：

Yokoo, Keiki ^{[1
]}

Yamada, Gen ^{[1
]}

Chiba, Hirofumi ^{[2
]}

Ishikawa, Aki ^{[3
]}

Morisaki, Hiroko ^{[4
,5
]}

Saijo, Hiroshi ^{[2
]}

Kudoh, Sayaka ^{[6
]}

Kitamura, Yasuo ^{[6
]}

Hirokawa, Naoki ^{[7
]}

Miyajima, Masahiro ^{[8
]}

Watanabe, Atsushi ^{[8
]}

Takahashi, Hiroki ^{[2
]}

机构：

[1] Teine Keijinkai Hosp, Dept Resp Med, Sapporo, Hokkaido, Japan

[2] Sapporo Med Univ, Dept Resp Med & Allergol, Sapporo, Hokkaido, Japan

[3] Sapporo Med Univ, Dept Med Genet, Sapporo, Hokkaido, Japan

[4] Sakakibara Heart Inst, Dept Med Genet, Fuchu, Tokyo, Japan

[5] Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, Res Inst, Suita, Osaka, Japan

[6] Kushiro City Gen Hosp, Dept Resp Med, Kushiro, Hokkaido, Japan

[7] Sapporo Med Univ, Dept Radiol, Sapporo, Hokkaido, Japan

[8] Sapporo Med Univ, Dept Resp Surg, Sapporo, Hokkaido, Japan

来源：

RESPIRATORY MEDICINE CASE REPORTS | 2018年 / 25卷

关键词：

Hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu disease; Pulmonary arteriovenous malformation;

D O I：

10.1016/j.rmcr.2018.07.001

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-year-old woman developed epistaxis and dyspnea. CT revealed three PAVMs, treated by partial resection. Case 3: A 20-year-old woman developed dyspnea. CT revealed multiple PAVMs, treated with endovascular occlusion of the largest one. Case 4: A 12-year-old woman developed epistaxis. CT revealed multiple PAVMs, observed without treatment. Genetic testing identified a new mutation, ENG c.1517T > C (pleu506Pro), in all patients and their mother. We suspect that HHT in these patients may be associated with this ENG mutation.

引用

页码：73 / 77

页数：5

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