中国实用内科杂志2017，Vol.37Issue(5)：412-414,418,4.DOI:10.19538/j.nk2017050112
肺动脉高压与先天性遗传代谢疾病
Pulmonary hypertension and inherited metabolic diseases
摘要
Abstract
Among the NICE classification of pulmonary hypertension,inherited metabolic disease is a rare genetic disease,most of which are autosomal recessive inheritance.The aberration of enzyme or the cell membrane function due to gene defect causes the disorder of biochemistry metabolism and multi-organ dysfunction.At present,the common inherited metabolic diseases with pulmonary hypertension mainly include Gaucher disease,methylphthalate disease and glycogen storage disease.The pathogenesis of inherited metabolic diseases combined with pulmonary hypertension is not clear.The clinical symptoms of patients are lack of specificity and the diagnosis is difficult.At present,for inherited metabolic disease with pulmonary hypertension,the main treatment is to cure the primary disease and pulmonary hypertension can be improved or even reversed when the treatment is combined with targeted drug therapy.In clinical practice,it is necessary to improve the diagnostic awareness of inherited metabolic diseases combined with pulmonary hypertension as well as the screening of metabolic diseases.Early detection and therapyis beneficial to the prognosis of patients.关键词
肺动脉高压/遗传代谢病/戈谢病/甲基丙二酸尿症/糖原累积症Key words
pulmonary hypertension/inherited metabolic disease/Gaucher disease/methyl phthalate disease/glycogen storage disease分类
医药卫生引用本文复制引用
吴艳,赵隽涵,荆志成..肺动脉高压与先天性遗传代谢疾病[J].中国实用内科杂志,2017,37(5):412-414,418,4.基金项目
国家自然科学基金(81320108005,81630003,81670052) （81320108005,81630003,81670052）
