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 33(3): 221-227 (2017)
doi:10.9794/jspccs.33.221

症例報告Case Report

遺伝性出血性毛細血管拡張症1型に合併した肺動脈性肺高血圧症への初期併用療法の効果The Effect of Upfront Combination Therapy for Pulmonary Arterial Hypertension Associated with Hereditary Hemorrhagic Telangiectasia Type-1: A Girl with a Novel Mutation in the Endoglin Gene

1宮崎大学医学部発達泌尿生殖医学講座小児科学分野Division of Pediatrics, Faculty of Medicine, University of Miyazaki ◇ Miyazaki, Japan

2国立循環器病研究センター病理部Department of Pathology, National Cerebral and Cardiovascular Center Research Institute ◇ Osaka, Japan

受付日:2016年10月18日Received: October 18, 2016
受理日:2017年3月23日Accepted: March 23, 2017
発行日:2017年5月1日Published: May 1, 2017
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Endoglin (ENG)はACVRL1と共に遺伝性出血性毛細血管拡張症(hereditary hemorrhagic telangiectasia: HHT)の原因遺伝子であり,それぞれHHT 1型,2型に分類される.HHTでは,稀であるが肺動脈性肺高血圧症(PAH)を合併すると報告されている.多くはHHT 2型に合併し,HHT 1型に合併するものはほとんど報告されていない.今回,HHTの家族歴をもとに施行した遺伝子解析および積極的な画像診断によりENG遺伝子変異およびPAHの確定診断に至った7歳女児を経験した.初診時はWHO機能分類2度であったが,心臓カテーテル検査では平均肺動脈圧50 mmHg, 肺血管抵抗11.8 WU/m2,肺動脈楔入圧9 mmHgでありPAHの所見であった.一般に遺伝性PAHは予後不良とされ,ボセンタン,タダラフィル,ベラプロストによる初期併用療法を行ったところ,WHO機能分類は1度に改善し,平均肺動脈圧も35 mmHgと改善した.本症例では経口薬による初期併用療法が短期から中期的には有効であったが,今後も長期的な観察が必要と考えられる.

Endoglin (ENG) and ACVRL1 are causative genes for hereditary hemorrhagic telangiectasia (HHT); ENG causes HHT type 1 and ALK1 causes HHT type 2. In some cases, HHT is complicated by pulmonary arterial hypertension (PAH). Although there are some reports on PAH in patients with HHT type 2, very few exist for PAH in patients with HHT type 1. Here, we report the case of a 7-year-old girl who was diagnosed of a novel mutation in the ENG gene and PAH on the basis of active diagnostic imaging and gene analysis performed because of a family history of HHT. Upon admission, her status was evaluated as WHO functional class 2. A right-heart catheterization test led to the diagnosis of PAH. The mean pulmonary artery pressure, pulmonary vascular resistance, and pulmonary capillary wedge pressure was 50 mmHg, 11.8 WU/m2, and 9 mmHg, respectively. Hereditary PAH is generally associated with poor prognosis. Our patient received upfront combination therapy with bosentan, tadalafil, and beraprost, which improved her status to WHO functional class 1 and her mean pulmonary artery pressure to 35 mmHg. Although upfront combination therapy with oral medication was effective in the short to medium term in our case, long-term observation is also necessary.

Key words: hereditary hemorrhagic telangiectasia; pulmonary arterial hypertension; endoglin; upfront combination therapy; pulmonary arteriovenous malformation

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