一名遗传性出血性毛细血管扩张症患者的肺动脉高压和门静脉高压

Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia.

作者信息

Pousada Guillermo, Baloira Adolfo, Valverde Diana

机构信息

Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain; Biomedical Research Institute of Vigo (IBIV), Vigo, Spain.

Respiratory Division, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.

出版信息

Med Clin (Barc). 2015 Mar 15;144(6):261-4. doi: 10.1016/j.medcli.2014.09.024. Epub 2014 Dec 24.

DOI:10.1016/j.medcli.2014.09.024

PMID:25543221

Abstract

BACKGROUND AND OBJECTIVE

Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. Mutations in BMPR2 gene are described in over 70% of cases, although other genes are involved in lesser extend in PAH. Hereditary hemorrhagic telangiectasia (HHT) is another rare autosomal dominant disease. PAH is a rare complication of HHT that occurs in less than 1% of cases. Liver cirrhosis with portal hypertension is also associated with the presence of PAHs in 1-2% of cases.

PATIENTS

We present here a patient with HHT who developed PAH shortly after showing portal hypertension.

RESULTS

Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. We analyzed these genes, detecting mutations in BMPR2 gene (c.1021G>A (V341L), c.327G>A (p.Q109Q)), ACVRL1 (c.313+20C>A, c.1502+7A>G) and ENG (c.498G>A (Q166Q)). The patient also had 3 polymorphisms in the TRPC6 gene (c.1-361A>T, c.1-254C>G, c.1-218C>T).

CONCLUSIONS

The study of these genes will help us to identify and track individuals susceptible for developing PAH associated with other diseases.

摘要

背景与目的

肺动脉高压（PAH）是一种罕见疾病，可呈常染色体显性模式遗传。超过70%的病例中存在骨形态发生蛋白受体2（BMPR2）基因突变，尽管其他基因在PAH中的作用程度较小。遗传性出血性毛细血管扩张症（HHT）是另一种罕见的常染色体显性疾病。PAH是HHT的一种罕见并发症，发生率不到1%。肝硬化伴门静脉高压在1%-2%的病例中也与PAH的存在有关。

患者

我们在此报告一名患有HHT的患者，在出现门静脉高压后不久发生了PAH。

结果

一些基因（BMPR2、激活素受体样激酶1（ACVRL1）、内皮糖蛋白（ENG））似乎在PAH发病机制中起重要作用。我们对这些基因进行了分析，检测到BMPR2基因（c.1021G>A（V341L）、c.327G>A（p.Q109Q））、ACVRL1（c.313+20C>A、c.1502+7A>G）和ENG（c.498G>A（Q166Q））存在突变。该患者瞬时受体电位通道6（TRPC6）基因也有3个多态性（c.1-361A>T、c.1-254C>G、c.1-218C>T）。