日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
〒162-0801東京都新宿区山吹町358-5アカデミーセンター Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Pediatric Cardiology and Cardiac Surgery 32(3): 244-249 (2016)
doi:10.9794/jspccs.32.244

症例報告Case Report

肺動静脈瘻を伴う遺伝性毛細血管拡張症の新規遺伝子変異1女児例A Case of Hereditary Hemorrhagic Telangiectasia with a De Novo Mutation in Endoglin

1横浜市立大学附属病院小児循環器科Department of Pediatric Cardiology, Yokohama City University Hospital ◇ Kanagawa, Japan

2国立循環器病研究センター研究所分子生物学部Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute ◇ Osaka, Japan

3国立循環器病研究センター小児循環器科Department of Pediatric Cardiology, National Cardiovascular Center ◇ Osaka, Japan

4神奈川県立こども医療センター循環器内科Department of Cardiology, Kanagawa Children’s Medical Center ◇ Kanagawa, Japan

受付日:2015年12月8日Received: December 8, 2015
受理日:2016年3月31日Accepted: March 31, 2016
発行日:2016年5月1日Published: May 1, 2016
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症例は12歳女児.幼児期より鼻出血を繰り返し,母と母方祖父も鼻出血が多い.数年前から運動時の呼吸苦を認めており,近医で多血症を指摘されて精査目的に紹介受診した.左背部に連続性雑音を聴取し,胸部単純X線写真で左下肺野に結節影を認めたことから造影CT検査を施行し,左S1と左S9に異常血管病変を確認した.診断基準に基づき,遺伝性出血性毛細血管拡張症に伴う肺動静脈瘻と診断した.左S9の肺動静脈瘻に対してカテーテル塞栓術の適応と考え,コイル塞栓術を行い,完全閉塞に成功した.術後,運動時の呼吸苦は消失した.本人と母に施行した遺伝子解析の結果,endoglinENG)遺伝子に新規遺伝子変異IVS2-1G>C(c.220-1G>C)が同定され,本変異がHHT発症の原因遺伝子変異である可能性が示唆された.遺伝子変異と疾患関連性について今後の症例の蓄積が必要である.

We report a case of a 12-year-old girl who had experienced numerous prior episodes of epistaxis since childhood. Her mother and maternal grandfather also had had similar episodes. She had experienced dyspnea on exertion since the age of nine. She was admitted to our hospital with polycythemia and exhibited a continuous murmur on the back left side. Chest X-ray showed a nodular shadow in the lower left lung field. Contrast-enhanced computed tomography (CT) scan of the chest revealed nodules with blood vessels in the left S1 and S9 segments. As the diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT) were satisfied, the patient was diagnosed as having a pulmonary arteriovenous fistula (PAVF) with HHT. Transcatheter embolization was indicated for the PAVF in the left S9 segment. Coil embolization was performed on the arteries feeding the PAVF. After coil embolization, the PAVF disappeared and the patient’s dyspnea on exertion alleviated. We performed genetic testing on her and her mother, and a de novo mutation IVS2-1G>C (c.220-1G>C) was found in endoglin (ENG) in both. We suggested that the mutation was a possible cause of HHT. Further studies are needed to demonstrate the association between the gene mutation and HHT.

Key words: hereditary hemorrhagic telangiectasia; pulmonary arteriovenous fistula; coil embolization; de novo mutation; endoglin

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