摘要
Objective:To explore the clinical and pathological features of Fabry disease complication of acute interstitial nephritis.Methods:A retrospective analysis of a patient with Fabry disease and acute interstitial nephritis diagnosed and in the Department of Nephrology,Children’s Hospital Affiliated to Capital Institute of Pediatrics in January 2017 was performed.A literature search was performed with“Fabry disease,acute interstitial nephritis”as the keywords in Wanfang database and PubMeds database.Result:The patient was 10-years-old with acute renal dysfunction.Electron microscopy showed stratified myelin-like bodies,zebra bodies and fused foot segment.The patient was finally diagnosed with the combination of Fabry disease and acute interstitial nephritis.By now,such cases have been reported.Conclusion:Whether Fabry's disease and acute interstitial nephritis shared the common pathogenic mechanism is unclear.Early renal biopsy is important for the diagnosis of this disease.
目的:探讨Fabry病合并急性间质性肾炎的临床表现和病理特点。方法:回顾性分析首都儿科研究所附属儿童医院肾脏内科2017年1月收治的1例Fabry病合并急性间质性肾炎患儿的临床资料,并以“Fabry病,急性间质性肾炎”为关键词,分别检索万方和PubMed等数据库的相关文献,进行总结。结果:患儿为10岁余男童,急性起病,临床肾功能不全为主要表现,无肾外表现。肾活检提示肾间质可见弥漫分布的水肿,电镜足细胞内可见分层状的髓磷样小体及斑马小体形成,足突节段融合。该患者最终诊断为Fabry病合并急性间质性肾炎。文献检索结果尚未发现有病例报道。结论:Fabry病作为一种X连锁遗传的溶酶体贮积症,和急性间质性肾炎是否存在共同的致病机制尚不清楚,早期进行肾脏活检对本病诊断有重要意义。
