【摘要】 目的 常染色体显性遗传多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)发病率为1/1000~1/400,是主要由PKD1或PKD2基因突变而引起的遗传性肾病。ADPKD合并IgA肾病(IgA nephropathy,IgAN)的病例临床上较为少见,可伴有肾病综合征。本研究旨在探讨ADPKD合并原发性IgAN的病理特点和治疗方案。方法 对3例ADPKD并IgAN患者的临床表现、ADPKD家族史、实验室检查、病理诊断及预后进行回顾性分析。结果 3例患者发病年龄31~53岁,均以少尿、水肿、大量蛋白尿为主要症状,肾穿刺活检术后诊断为1例HassⅡ型IgAN和2例HassⅠ型IgAN。病例1给予泼尼松联合环磷酰胺治疗,病例2给予泼尼松联合吗替麦考酚酯治疗,病例3单用泼尼松治疗。经过免疫抑制治疗后,患者大量蛋白尿和血尿均得到缓解。虽然患者随访时总肾脏体积仍出现增长,但长期肾功能保持良好。结论 ADPKD伴大量蛋白尿根据囊泡位置尽可能开展肾活检。ADPKD并IgAN的患者应根据分型给予循证支持的免疫抑制治疗,可以减少蛋白尿,有助于预防肾衰竭的发生。更多还原

【Abstract】 Objective To get a clear understanding on the clinicopathological characteristics and the treatment of autosomal dominant polycystic kidney disease(ADPKD) with primary IgA nephropathy(IgAN).Methods A retrospective analysis on patients with ADPKD and IgAN was performed.The family history of ADPKD,clinical manifestations,laboratory tests,pathological diagnosis and prognosis were discussed.Results The ages of the 3 patients were 31-53 years old.Oliguria,edema and proteinuria were the main symptoms.Histological examination revealed Hass Ⅱ IgAN in 1 case,and Hass Ⅰ IgAN in the rest 2 cases.The patient 1-was treated with prednisolone plus cyclophosphamide,the patient 2 with prednisolone and mycophenolate mofetil,and the patient 3 with prednisolone alone.After immunosuppressive treatment,proteinuria and hematuria of the 3 patients all remitted.Renal functions were stabilized after a long-term follow-up,although the total kidney volume kept progressing.Conclusions Renal biopsy is needed in the patient with ADPKD with nephrotic-range proteinuria.An evidence-based immunosuppressive therapy for ADPKD with IgAN is needed for prevention of renal failure.更多还原