重复肾活检为原发性局灶节段性肾小球硬化症患儿临床病理分析

Characteristics of repeated renal biopsy-proven primary focal segmental glomerulosclerosis in children

目的对8例经重复肾活检确诊为原发性局灶节段性肾小球硬化症（PFSGS）的患儿进行研究，探讨临床一病理相关性，两次肾活检病理类型的联系以及重复肾活检的指征。方法回顾分析近10年在北京大学第一医院儿科肾活检的病例，对其中8例重复肾活检、并最终确诊为PFSGS的病例进行分析，总结其临床特点、重复肾活检的指征、前后两次肾活检病理类型的不同，以及治疗反应。其中局灶节段性肾小球硬化症（FSGS）分型依据2004年D’Agati提出的最新分型标准。结果8例患儿首次发病年龄在1—12岁，临床诊断均为肾病综合征。首次肾穿年龄1．1～15．0岁，随访时间10个月-14年。重复肾活检的原因为治疗反应差，持续大量蛋白尿不缓解，伴或不伴肾功能下降。3例患儿两次肾活检均在北京大学第一医院完成，第1次病理类型分别为：系膜增生、FSGS细胞型（CELL）及FSGS顶端型（GTL）。第2次肾穿后，分别加用或更换免疫抑制剂，3例出现肾功能下降或终末期肾病，起病年龄均在1岁左右；2例FSGS塌陷型（COLL）者，l例重复肾活检发现伴随亚急性小管间质肾炎。结论PFSGS是一组临床病理综合征，临床表现以肾病综合征多见。在病程中出现治疗反应差，病情持续不缓解时，通常提示病理转型。系膜增生可以转化为FSGS，FSGS各亚型也可发生转换。塌陷型及发病年龄小者预后差。

Objective To analyze the characteristics of repeated renal biopsy-proven primary focal segmental glomerulosclerosis （PFSGS） in 8 children, and to reveal the relationship between clinical features and pathology, between the two times of renal biopsy pathology, and the indications for repeated renal biopsy. Method The records of cases who ever experienced renal biopsy in this hospital were reviewed, of whom 8 cases of repeated renal biopsy-proven PFSGS were enrolled. The clinical manifestations, the reason why they had renal biopsy again, the difference in renal pathological findings, between the two biopsies and their therapeutic response. The classification of focal segmental glomerulosclerosis（FSGS）was based on the new criteria suggested by D＇Agati in 2004. Result Of the 8 cases, age of onset ranged from 1 to 12 years, all were diagnosed as nephrotic syndrome （NS）, the age of first biopsy ranged from 1.1 to 15.0 years, and the follow-up period was 10 months to 14 years. The reason for repeated biopsy was poor therapeutic response, continuous heavy proteinuria, or the progressive renal dysfunction. Four cases had the both biopsies in this hospital, and the first renal pathology showed minimal change disease （ MCD）, mesangial proliferation, FSGS CELL type and FSGS GTL type. After the second biopsy, they were additionally treated with immunosuppressive agents or switched to another one, 2 cases with FSGS COLL type presented renal dysfunction or end stage renal disease （ESRD）, 1 case who developed the disease at 1.4 years of age, presented renal dysfunction at 10 months follow-up. The remaining 5 cases acquired complete remission. Conclusion FSGS is a clinicopathological syndrome, NS predominates clinically. It often indicates pathologic transformation when the patients show poor therapeutic response or continuous heavy proteinuria without remission. Mesangial proliferation can convert into FSGS, and the subtype of FSGS can shift. FSGS COLL type and onset at young age may suggest poor prognosis.