摘要
目的常染色体显性遗传多囊肾病（autosomal dominant polycystic kidney disease，AD-PKD）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（IgAnephropathy，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。
Objective To get a clear understanding on the clinicopathological characteristics and the treatment of autosomal dominant polycystic kidney disease （ADPKD） with primary IgA nephropa- thy （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 ]I IgAN in 1 case, and Hass I IgAN in the rest 2 cases. The patient 1 was treated with prednisolone plus cyclophospha- mide, the patient 2 with prednisolone and mycophenolate mofetil, and the patient 3 with prednisolone a- lone. After immunosuppressive treatment, proteinuria and laematuria of the 3 patients all remitted. Re- nal functions were stabilized after a long-term follow-up, although the total kidney volume kept pro- gressing. Conclusions Renal biopsy is needed in the patient with ADPKD with nephrotic-range pro- teinuria. An evidence-based immunosuppressive therapy for ADPKD with IgAN is needed for preven- tion of renal failure.
出处
《临床肾脏病杂志》
2013年第12期542-545,共4页
Journal Of Clinical Nephrology
基金
国家自然科学基金（No.30900692,81370844）
关键词
常染色体显性遗传多囊肾病
泼尼松
血尿
Autosomal dominant polycystic kidney disease
Prednisone
Hematuria
