| Genetics in heritable pulmonary arterial hypertension |
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Young Jae Lee |
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1동아대학교 의과대학 내과학교실, 2부산의료원 신장내과 |
| 유전성 폐동맥고혈압과 관련된 유전자 연구 |
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이영재 |
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1Department of Internal Medicine, Dong-A University College of Medicine; 2Division of Nephrology, Busan Medical Center, Busan, Korea |
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| Abstract |
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Pulmonary arterial hypertension is caused by vascular remodeling including muscularization of arteries, loss of small precapillary
arteries, and formation of neointima and plexiform lesion, resulting in a progressive increase in pulmonary vascular resistance.
About 70% of heritable pulmonary arterial hypertension and 10% to 40% of idiopathic pulmonary arterial hypertension patients
possess mutations in bone morphogenetic protein receptor, type 2 (BMPR2), which is a type II receptor of TGF-β superfamily. Very
rarely, mutations in another receptors of TGF-β superfamily, activin-like kinase-type 1 (ALK1) and endoglin (ENG) are found in
pulmonary arterial hypertension patients with hereditary hemorrhagic telangiectasia. Genetic screening is useful to identify family
members who are mutation carriers in heritable pulmonary arterial hypertension families. (Korean J Med 78:20-27, 2010) |
| Key Words:
Pulmonary arterial hypertension; BMPR2 receptor; ALK1 receptor, human; ENG receptor, human; Genetic screening |
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