α1-抗胰蛋白酶的缺乏与治疗

Deficiency and therapeutic approaches of α1-antitrypsin

α1-抗胰蛋白酶缺乏症(α1-antitrypsin deficiency,AATD)是遗传性疾病,可引起肝脏疾病,也与早发型肺气肿等肺部疾病有关。编码α1-抗胰蛋白酶(α1-antitrypsin,AAT)的基因具有复杂的单核苷酸多态性,并以常染色体共显性方式遗传。临床上,以混合人血浆为来源的静注AAT可提高AATD患者的血清AAT水平。除这种增补疗法外,新的治疗方法也在不断发展,包括基因治疗及干细胞治疗等。

Alpha 1 -antitrypsin deficiency （ AATD） is a hereditary disease, which relates to hepatic diseases and some pulmonary diseases like early-onset emphysema. Gene of α1-antitrypsin （AAT） has complex single nucleotide polymorphisms, and inheritance occurs in an autosomul co, dominant manner. Clinically, intravenous administration of AAT derived from pooled human plasma has been used to improve the level of the serum AAT of AATD patients. Besides this supplementary therapy, novel therapeutic approaches are also developed, such as gene therapies and stem cell strategies.