摘要
目的分析甲基丙二酸尿症(methylmalonic aciduria,MMA)并肾脏受累儿童的临床特点及转归。方法对2010年1月至2019年8月于山东大学附属省立医院儿科住院治疗的16例MMA并肾脏受累病例的临床资料进行回顾性分析。结果16例患儿确诊MMA的年龄从生后7 d^7岁(中位年龄6个月)。肾脏受累表现为孤立性血尿5例,孤立性蛋白尿1例,血尿和蛋白尿6例,肾炎型肾病综合征2例,溶血尿毒综合征2例;其中,伴肾功能受损4例。2例患儿行基因检测示MMACHC突变,均为MMA CblC型。1例患儿家属拒绝应用维生素B12等药物治疗(出院后失访),余15例中,5例死于多脏器功能衰竭,5例放弃治疗,5例患儿症状改善,尿常规于治疗后1~4个月恢复正常。结论MMA合并肾脏受累表现复杂多样,轻重缓急不同,极易造成临床漏诊、误诊。早期诊断、正规治疗对于控制病情、改善预后至关重要。
Objective To analyze the clinical characteristics and prognosis of children diagnosed as methylmalonic aciduria(MMA)with renal injury.Methods Sixteen patients diagnosed as MMA with renal injury hospitalized in Shandong Provincial Hospital Affiliated to Shandong University from January 2010 to August 2019 were included.The clinical data and prognosis of the patients were summarized and analyzed retrospectively.Results Sixteen cases were diagnosed as MMA from 1 days to 7 years old(median 6 months).Renal involvement of 16 patients included isolated hematuria(5 cases),isolated proteinuria(1 cases),hematuria and proteinuria(6 cases),nephritis nephrotic syndrome(2 cases),hemolytic uremic syndrome(2 cases),among them 4 cases accompanied by renal function injury.MMACHC mutation was detected in 2 patients diagnosed as MMA CblC type.One child refused to be treated with vitamin B12(lost to follow-up after discharge).Among the remaining 15 cases,5 cases died of multiple organ failure,5 cases abandoned,5 cases were saved and the urine routine returned to normal after 1-4 months.Conclusion The manifestations of MMA combined with renal injury are complicated.Early diagnosis and regular treatment are very important to control the disease and improve the prognosis.
作者
李倩
余丽春
孙书珍
Li Qian;Yu Lichun;Sun Shuzhen(Department of Paediatric Nephrology and Rheumatism and Immunology,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,China;Department of Paediatric Nephrology and Rheumatism and Immunology,Shandong Provincial Hospital Affiliated to Shandong University,Jinan 250021,China)
出处
《中国小儿急救医学》
CAS
2020年第5期354-357,共4页
Chinese Pediatric Emergency Medicine
基金
山东省自然科学基金(ZR2015HM009)
山东省重点研发项目(2017GSF218005)。
