Lipska A, Wysocka J
Zakładu Laboratoryjnej Diagnostyki Pediatrycznej, Akademia Medyczna w Białymstoku.
Przegl Lek. 1998;55(10):537-41.
alpha 1-Antitrypsin deficiency is associated with predisposition to developing liver cirrhosis in early childhood and emphysema in adult life. One of the common variants PiZ leads to accumulation of the abnormal protein in hepatocytes and cell damage. Emphysema is a consequence of the protease-antiprotease imbalance. Understanding of the mechanism of disease allows early diagnostics and therapeutic intervention.
α1-抗胰蛋白酶缺乏症与儿童早期发生肝硬化及成年后发生肺气肿的易感性相关。常见变异型之一PiZ会导致异常蛋白在肝细胞中蓄积并造成细胞损伤。肺气肿是蛋白酶-抗蛋白酶失衡的结果。对疾病机制的了解有助于早期诊断和治疗干预。
