婴儿原发性高草酸尿症1型1例并文献复习  

Infant primary hyperoxaluria type 1:A case report and literature review

作　　者：郑雨竹 李琦 梁爽[1] ZHENG Yuzhu;LI Qi;LIANG Shuang(Department of Children Medical Center,Second Hospital of Shandong University,Jinan 250033;Department of Pediatrics,Fourth Affiliated Hospital of Soochow University,Suzhou Jiangsu 215000,China)

机构地区：[1]山东大学第二医院儿童医学中心,济南250033 [2]苏州大学附属第四医院儿科,江苏苏州215000

出　　处：《中南大学学报（医学版）》2024年第6期856-862,共7页Journal of Central South University ：Medical Science

基　　金：中华国际医学交流基金(Z-2019-41-2201)。

摘　　要：原发性高草酸尿症(primary hyperoxaluria,PH)是一种罕见的常染色体隐性遗传病,PH1型(PH1)为其中最常见的类型,主要表现为反复性肾结石和肾钙质沉积,可诱发急性肾衰竭。婴儿PH1易导致早期终末期肾病,病死率高。本文报道1例就诊于山东大学第二医院的急性肾衰竭婴儿,该病例通过全外显子基因测序确诊为PH1,基因型为AGXT基因c.596-2A>G纯合突变,在中国人群中为首次报道。既往文献表明尿草酸、结石成分分析等可提示PH1,PH1诊断的金标准是肝活检结合丙氨酸-乙醛酸转氨酶(alanine-glyoxylate aminotransferase,AGT)活性鉴定,而AGXT基因测序因其便捷性逐步成为首选诊断方法。PH1的保守治疗方法有补充充足液体量、枸橼酸盐、维生素B6和持续肾脏替代等,但肝移植是其唯一的根治方法。对于不明原因的急性肾衰竭婴儿应警惕PH1,尽早行尿草酸盐水平的检测和基因筛查。Primary hyperoxaluria(PH)is a rare autosomal recessive disorder,with PH type 1(PH1)being the most common.It is primarily characterized by recurrent renal calculi,renal calcification,and can lead to acute renal failure.In infants,PH1 often results in early end-stage renal disease(ESRD)with a high mortality rate.This paper reports a case of an infant with acute renal failure in the Second Hospital of Shandong University who was diagnosed as PH1 using whole-exome sequencing,revealing a homozygous mutation in the AGXT gene(c.596-2A>G),which is reported here for the first time in the Chinese population.Previous literature indicates that urinary oxalate levels and stone composition can suggest PH1,with the gold standard for diagnosis being liver biopsy combined with alanine-glyoxylate aminotransferase(AGT)enzyme activity assessment.However,due to its convenience,AGXT gene sequencing has increasingly become the preferred diagnostic method.Conservative treatments for PH1 include adequate fluid intake,citrate,vitamin B6,and continuous renal replacement therapy,while liver transplantation is the only curative treatment.Infants with unexplained acute renal failure should be evaluated for PH1,with early detection of the level of urine oxalate and screening for genetic testing recommended.

关 键 词：原发性高草酸尿症1型 婴儿 急性肾衰竭 AGXT基因 

分 类 号：R726.9[医药卫生—儿科]