急性间歇性卟啉病肾脏损害研究进展

Research progress of renal damage in acute intermittent porphyria

摘要: 随着遗传学、分子生物学的发展，急性间歇性卟啉病（acute intermittent porphyria，AIP）研究不断深入，其相关肾损害日益引起关注。AIP肾脏损害归属于卟啉病相关性肾病（porphyrin-associated nephropathy，PAKD），其发生与氧化应激、蛋白质聚集、肾脏动脉血管收缩、肾小管损伤、PEPT2*1蛋白表达、肾组织上皮细胞表型转化、致炎细胞因子增多等有关。AIP肾脏损害治疗方案包括PEPT2抑制剂的应用、肝肾联合移植以及降低δ-氨基-γ酮戊酸（ALA）/体内卟胆素原（PBG）水平。本文对AIP肾脏损害发病机制及治疗新进展做一综述。

Abstract: With the development of genetics and molecular biology,the research of acute intermittent porphyria (AIP) has been studied increasingly,and its related renal damage has attracted more and more attention.However,pathogenesis of renal damage related to AIP,belonging to porphyrin-associated nephropathy(PAKD),was associated with oxidative stress,protein aggregation,renal arterial vasoconstriction,renal tubular injury,PEPT2*1 protein expression,renal epithelial cells phenotypic transformation,and inflammatory cytokines increase.Its treatment regimes include PEPT2 inhibitor use,combined liver and kidney transplantation,and reducing ALA/PBG levels.In this article,we reviewed the new progress in pathogenesis and therapies of PAKD including the targeted therapy.