Primary Hyperoxaluria Type 1：Report of One Pediatric Case and Literature Review

doi:10.12114/j.issn.1007-9572.2020.00.560

Abstract

Abstract: Primary hyperoxaluria type 1 （PH1） is an autosomal recessive genetic disease，with clinical manifestations of repeated kidney stones and progressive renal calcification，usually starting in childhood，and eventually developing to end-stage renal disease as the progressive deterioration of the disease.Currently，AGXT gene sequencing has gradually substituted liver biopsy，and become a first diagnostic method for PH1.And early treatment options of PH1 are mainly conservative therapies.We reported a pediatric case of PH1，with detailed analysis and summary of the clinical characteristics and management methods，aiming to provide a reference for clinicians to diagnose and treat the disease.

Key words: Hyperoxaluria, primary；Primary hyperoxaluria type 1；Urine metabolism analysis；Genetic testing；AGXT gene

摘要： 原发性1型高草酸尿症（PH1）是一种常染色体隐性遗传病，临床表现为反复的肾脏结石和进行性肾钙质沉着症，通常在儿童期起病，病情呈进行性加重，最终会进展为终末期肾病。目前对于PH1的诊断，AGXT基因测序已经逐渐取代肝穿刺活检成为首选的诊断方法；PH1早期治疗主要为保守治疗。本文通过报道1例诊断明确的PH1患儿，分析并总结PH1的临床特征及管理方法，旨在为临床医生早期诊治该病提供参考。

关键词: 高草酸尿症, 原发性, 原发性1型高草酸尿症, 尿液成分分析, 基因检测, AGXT基因

ZHOU Xudong,ZHAO Xinghua,XU Changbao, et al. Primary Hyperoxaluria Type 1：Report of One Pediatric Case and Literature Review　[J]. Chinese General Practice, 2021, 24(9): 1148-1151. DOI: 10.12114/j.issn.1007-9572.2020.00.560.
周旭东,赵兴华,许长宝等. 儿童原发性1型高草酸尿症一例报道并文献复习[J]. 中国全科医学, 2021, 24(9): 1148-1151. DOI: 10.12114/j.issn.1007-9572.2020.00.560.

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