常染色体显性多囊肾病的预后评估及治疗

常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)患病率为1‰~2‰, 属于罕见病, 临床主要表现为双侧肾囊肿且逐渐发展, 肾脏体积进行性增大, 肾功能逐步降低。PKD1基因突变约占81%, PKD2基因突变约占10.5%~22%。血管加压素(arginine vasopressin, AVP)和环磷酸腺苷(cyclic adenosine monophosphate, cAMP)信号通路在ADPKD囊肿发展过程中发挥重要作用。近年来发表的梅奥风险评估模型和PROPKD(predicting renal outcome in polycystic kidney disease)评分是ADPKD较好的预后评估模型, 已成为临床医生决策的重要依据。通过拮抗AVP受体, 抑制cAMP通路的托伐普坦已成为ADPKD首个特异治疗药物, 可有效抑制总肾脏体积的增长和保护肾功能。药物的长期安全性仍需进一步研究。

Prognostic Evaluation and Treatment of Autosomal Dominant Polycystic Kidney Disease

The prevalence of autosomal dominant polycystic kidney disease(ADPKD) is 1‰ to 2‰, belonging to rare diseases. ADPKD is mainly manifested as gradually developing bilateral renal cysts, progressively increasing renal size, and gradually reduced renal function. PKD1 mutation accounts for about 81%; PKD2 mutation accounts for about 10.5% to 22%. Vasopressin and cyclic adenosine monophosphate(cAMP) signaling pathways play an important role in the development of ADPKD cysts. In recent years, the Mayo risk assessment model and predicting renal outcome in polycystic kidney disease(PROPKD) score, which are good prognostic models for ADPKD, have become important evidences for clinical decision-making. Tolvaptan, which inhibits cAMP pathway by antagonizing vasopressin receptor, has become the first specific treatment for ADPKD. Tolvaptan could effectively inhibit the growth of total renal size, and protect renal function. Long-term safety of the drug still needs further study.