儿童原发性Ⅰ型高草酸尿症伴慢性肾衰竭一例并文献复习  

Primary Hyperoxaluria Type 1 with Chronic Renal Failure:a Case Report and Literature Review

作　　者：刘涛[1] 王文红[1] 范树颖[1] 吴瑕[1] LIU Tao;WANG Wen-hong;FAN Shu-ying;WU Xia(Department of Nephrology,Tianjin Children’s Hospital(Tianjin University Children's Hospital),Tianjin Institute of Pediatrics,Tianjin Key Laboratory of Birth Defects Prevention,Tianjin 300134,China)

机构地区：[1]天津市儿童医院(天津大学儿童医院)肾脏科、天津市儿科研究所、天津市儿童出生缺陷防治重点实验室,天津300134

出　　处：《罕少疾病杂志》2025年第1期11-13,共3页Journal of Rare and Uncommon Diseases

基　　金：天津市医学重点学科(专科)建设项目资助(TJYXZDXK-040A)。

摘　　要：目的总结罕见儿童原发性I型高草酸尿症(PH1)的临床资料,为临床医生对该病的早期诊治提供帮助。方法回顾分析1例PH1患儿的临床特点、基因变异情况,并进行文献综述。结果患儿男,7岁,因“7天前吐泻2天,浮肿4天,发现尿检异常、血肌酐升高6小时”入院于我院肾脏科病房,入院后发现患儿存在肾衰竭、肾性贫血、高血压,肾脏B超提示肾结石、肾椎体钙化,基因检测提示AGXT纯合变异,结合患儿存在“肾结石、肾衰竭”家族史,诊断原发性I型高草酸尿症(AGXT基因变异),因患儿已错过最佳治疗时机,在诊断后2个月死亡。结论对于临床有肾结石的患儿应尽早行原发性高草酸尿症筛查,早期诊断及治疗可能改善该病预后及延长寿命。Objective To summarize the clinical data of rare primary type 1 hyperoxaluria(PH1)in children.Methods The clinical characteristics and gene variation of 1 child with PH1 were analyzed and literature review was carried out.Results A seven years old boy hospitalized in our hospital kidney ward because of vomiting and diarrhea for 2 days prior to 7 days,edema lasted for four days,abnormal urine test and elevated serum creatinine for six hours.After admission,we found that he had renal failure,renal anemia,high blood pressure,kidney stones,calcification of renal vertebrae,and genetic testing suggests homozygous AGXT variation.Combined with positive family history,primary hyperoxaluria type 1(AGXT gene variation)was diagnosed.The patient died two months after his diagnosis of primary hyperoxaluria type 1 because he had missed the best time for treatment.Conclusion Screening for primary hyperoxaluria should be performed as soon as possible for children with clinical kidney stones.Early diagnosis and treatment may improve prognosis and prolong life.

关 键 词：原发性 高草酸尿症 AGXT 儿童 肾衰竭 

分 类 号：R692[医药卫生—泌尿科学]