婴儿全身性动脉钙化症的发病机制及治疗进展

Pathogenesis and treatment of generalized arterial calcification of infancy

婴儿全身性动脉钙化(generalized arterial calcification in infancy,GACI)又称为婴儿特发性动脉钙化症,是一种罕见的常染色体隐性遗传疾病,发病率为1/391 000。这种疾病的特点是广泛的动脉钙化和大、中型血管狭窄,导致高血压和心力衰竭等相关并发症。目前尚无治疗指南,对内源性钙化抑制剂的研究和ENPP1 酶替代疗法是目前国内外研究的热点。现就病因、发病机制及目前内源性钙化抑制剂和ENPP1 酶替代疗法治疗GACI 研究进展进行总结分析,以期从中找出最有可能成为未来发展方向的治疗方法。

Generalized arterial calcification of infancy (GACI),also known as idiopathic infantile arterial calcification,is a rare autosomal recessive genetic disease with an incidence of one in 391,000.The disease is characterized by extensive arterial calcification and stenosis of large and medium-sized vessels,leading to the vascular-related complications of hypertension and heart failure.Currently, there is no treatment guideline.The hot spots at home and abroad are focused on endogenous calcification inhibitors and ENPP1 enzyme replacement therapy.This article mainly summarized and analyzed the etiology,pathogenesis and current research progress of endogenous calcification inhibitors and ENPP1 enzyme replacement therapy for GACI,in order to find out the treatment methods that are most likely to become the future development direction.