从复杂性尿路感染反复发作至确诊Ⅱ型原发性高草酸尿症(PH)1例  

A case of primary hyperoxaluria (PH) type Ⅱ diagnosed from the recurrent episodes of complicated urinary tract infection

作　　者：陈芸 尚达 郝传明 朱彤莹 CHEN Yun;SHANG Da;HAO Chuan-ming;ZHU Tong-ying(Department of Nephrology,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院肾病科

出　　处：《复旦学报（医学版）》2019年第3期423-426,共4页Fudan University Journal of Medical Sciences

基　　金：国家自然科学基金(81670692)~~

摘　　要：原发性高草酸尿症(primary hyperoxaluria,PH)是一种复杂而少见的先天性乙醛酸盐和草酸盐代谢异常性疾病,分为Ⅰ、Ⅱ、Ⅲ等3种亚型,以Ⅱ、Ⅲ型尤为罕见。本文报道1例临床上表现为复杂性尿路感染反复发作且肾功能不全的Ⅱ型PH患者,并结合患者病史分析PH在临床上诊治的难点与注意点。Primary hyperoxaluria (PH) is a complicated and rare congenital disease of glyoxylate and oxalate metabolic abnormality with 3 subtypes of Ⅰ,Ⅱ and Ⅲ,while type Ⅱ and type Ⅲ are especially rare.This article has reported a case of PHⅡ presented with complicated urinary tract infections and renal insufficiency,and further discussed the difficulties and key points in the diagnosis and treatment of PH based on the patient’s history.

关 键 词：原发性高草酸尿症(PH) 尿路感染 基因诊断 

分 类 号：R692.5[医药卫生—泌尿科学]