肺动脉高压与先天性遗传代谢疾病

Pulmonary hypertension and inherited metabolic diseases

肺动脉高压(PAH)分类第五大类中先天性遗传代谢病是一类较为罕见的遗传性疾病,以常染色隐性遗传最为多见。由于基因缺陷导致酶或者细胞膜功能异常,进而引起机体生化代谢紊乱、多器官系统功能受损。目前常见的合并PAH的遗传代谢性疾病主要包括戈谢氏病、甲基苯二酸症、糖原累积症。遗传代谢性疾病合并PAH的发病机制尚不清楚。患者的临床症状缺乏特异性,诊断有一定困难。目前对于合并PAH的遗传代谢病的治疗主要以治疗原发病为主,加用PAH的靶向药物治疗,部分患者PAH能得到改善甚至逆转。在临床实践中,应提高合并PAH的先天性遗传代谢病的诊断意识,强化代谢性疾病的筛查,早期发现、早期干预有利于患者的预后。

Among the NICE classification of pulmonary hypertension, inherited metabolic disease is a rare genetic disease, most of which are autosomal recessive inheritance. 2-he 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 dear. 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 therapy is beneficial to the prognosis of patients.