阵发性睡眠性血红蛋白尿并发慢性肾小管间质肾病一例暨文献复习

Paroxysmal nocturnal hemoglobinuria complicated with chronic tubulointerstitial nephritis:a case report and literature review

目的报道一例罕见的阵发性睡眠性血红蛋白尿(paroxysmal nocturnal hemoglobinuria,PNH)并发慢性肾小管间质肾病病例。结合文献复习,探讨疾病临床、影像学及病理改变特征和诊疗思路。方法收集和报道患者临床资料、磁共振成像(MRI)及肾脏病理检查结果、治疗措施和效果。通过系统回顾相关文献,总结和探讨PNH并发慢性肾小管间质肾病的临床表现特征及其发病机制。结果患者被诊断PNH 30余年,外周血PNH克隆阳性,尿比重1.012,尿pH值6.0~7.0,尿蛋白(+),尿糖(3+),尿红细胞(2+),血肌酐259μmol/L,血乳酸脱氢酶800 U/L。MRI示T1及T2加权像双侧肾皮质信号降低。肾脏病理检查示慢性小管间质病变,普鲁士蓝染色及电镜检查示近端肾小管上皮细胞内有大量含铁血黄素沉积。经小剂量泼尼松控制溶血发作及对症治疗,患者肾功能长期稳定。结论PNH合并慢性肾小管间质肾病起病隐匿且易被忽视。MRI和肾组织病理检查有助于明确诊断。早期确诊、早期干预有利于改善患者预后。

Objective To report a rare case of paroxysmal nocturnal hemoglobinuria(PNH)complicated with chronic tubulointerstitial nephropathy,combined with literature review,and discuss the clinical,imaging and pathological characteristics of the disease and the diagnosis and treatment ideas.Methods The patient's clinical data,magnetic resonance imaging(MRI)and kidney pathological examination results,treatment measures and effects were collected and reported.Through systematic review of relevant literature,the clinical manifestations and pathogenesis of chronic tubular interstitial nephropathy complicated by PNH were summarized and discussed.Results In this case,PNH was diagnosed for more than 30 years,the peripheral blood PNH clone was positive,urine specific gravity was 1.012,urine pH 6.0-7.0,urine protein(+),urine sugar(3+),serum creatinine 259μmol/L,serum lactic acid dehydrogenase 800 U/L.MRI showed bilateral renal cortical signal was low intensity on both T1⁃and T2⁃weighted images.Kidney biopsy revealed remarkable chronic tubulointerstitial nephropathy with massive hemosiderin deposition in proximal tubular cells demonstrated by Prussian blue staining and electron microscopy.By using low⁃dose prednisone to control hemolytic attack and other supportive treatments,the patient's renal function has been stabilized for a long time.Conclusions PNH complicated with chronic tubulointerstitial nephritis is easy to be misdiagnosed due to insidious onset.MRI and kidney histopathological examination are helpful to clarify the diagnosis.Early diagnosis and treatment are helpful to improve the prognosis of such patients.