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常染色体隐性遗传性多囊肾病(ARPKD)，发病率较低，多发于新生儿期和婴儿期，其致病基因为多囊肾/多囊肝病变1基因(PKHD1)。ARPKD的发病机制目前尚不十分清楚，治疗原则主要是控制并发症，延缓疾病的进展。文章综述近年来国内外ARPKD发病机制和治疗的新进展。“,”Autosomal recessive polycystic kidney disease (ARPKD) had a low incidence, and mainly in neonates or infants. It is caused by mutations of the polycystic kidney and hepatic disease 1 gene (PKHD1). The pathogenesis of ARPKD is still not clear. The principal of treatment is focused on the control of complications and slow down the progression. In this article, the research advances in the pathogenesis and treatment of ARPKD was reviewed.