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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。
Pulmonary Hypertension (PAH) Category The fifth category of congenital hereditary metabolic diseases is a relatively rare genetic disease that is most commonly seen with an autotrophic recessive inheritance. Due to genetic defects lead to enzyme or cell membrane dysfunction, and then cause the body’s metabolic disorders, multiple organ system dysfunction. At present, the common metabolic diseases associated with PAH mainly include Gaucher’s disease, metharemia, glycogenosis. The pathogenesis of inherited metabolic diseases complicated by PAH is not yet clear. The lack of specificity of the patient’s clinical symptoms, the diagnosis has some difficulties. At present, the treatment of inherited metabolic diseases combined with PAH mainly focuses on the treatment of primary disease, and the targeted therapy with PAH can improve or even reverse the PAH in some patients. In clinical practice, the diagnosis of congenital inherited metabolic diseases complicated with PAH should be improved and the screening of metabolic diseases should be strengthened. Early detection and early intervention are beneficial to the prognosis of patients.