肺动脉高压的遗传学。

Genetics of pulmonary arterial hypertension.

机构信息

Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Suite 307, Murray, UT 84107, USA; Department of Internal Medicine, University of Utah School of Medicine, 30 N. 1900 E, Salt Lake City, UT 84132, USA.

出版信息

Clin Chest Med. 2013 Dec;34(4):651-63. doi: 10.1016/j.ccm.2013.08.003.

DOI:10.1016/j.ccm.2013.08.003

PMID:24267296

Abstract

Painstaking research led to the discovery of gene mutations responsible for heritable forms of pulmonary arterial hypertension (PAH). Mutations in the gene BMPR2, which codes for a cell surface receptor (BMPRII), cause the approximately 80% of heritable cases of PAH. Less commonly mutations in ALK1, CAV1, ENG, and SMAD9, and newly discovered mutations in KCNK3, may cause heritable PAH. Other family members of many patients diagnosed with idiopathic PAH may be diagnosed with PAH. Genetic counseling and testing should be offered to patients diagnosed with heritable or idiopathic PAH.

摘要

艰苦的研究导致了导致遗传性肺动脉高压 (PAH) 的基因突变的发现。编码细胞表面受体 (BMPRII) 的基因 BMPR2 的突变导致约 80% 的遗传性 PAH 病例。不太常见的是 ALK1、CAV1、ENG 和 SMAD9 中的突变，以及新发现的 KCNK3 突变，也可能导致遗传性 PAH。许多被诊断为特发性 PAH 的患者的其他家族成员可能被诊断为 PAH。遗传性或特发性 PAH 患者应提供遗传咨询和检测。