常染色体隐性遗传性多囊肾病诊疗新进展

New Advances in the Diagnosis and Treatment of Autosomal Recessive Polycystic Kidney Disease

摘要: 常染色体隐性遗传性多囊肾病(Autosomal Recessive Polycystic Kidney Disease, ARPKD)是一种罕见的遗传性肾病，主要由PKHD1基因突变引起。近年来，随着基因测序技术和疾病模型的发展，对ARPKD的认识不断深入。国际多中心研究的建立促进了临床数据的整合与共享，推动了疾病自然史的研究和治疗策略的优化。新兴的治疗方法如CFTR调节剂、PKA抑制剂等为患者带来了新的希望。未来研究应聚焦于开发针对特定基因型的精准治疗，利用类器官和AI模型进行药物筛选，建立国际患者登记系统以推动临床研究。本文主要对ARPKD的诊断方法和治疗策略的最新进展进行综述。

Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary kidney disorder mainly caused by mutations in the PKHD1 gene. Recently, with the development of gene sequencing technology and disease models, our understanding of ARPKD has been continuously deepened. The establishment of international multi-center studies has promoted the integration and sharing of clinical data, facilitating research on the natural history of the disease and the optimization of treatment strategies. Emerging treatment methods such as CFTR modulators and PKA inhibitors have brought new hope to patients. Future research should focus on developing precision treatments for specific genotypes, using organoids and AI models for drug screening, and establishing an international patient registry to advance clinical research. This article mainly reviews the latest progress in the diagnosis methods and treatment strategies of ARPKD.