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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
【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。
【Abstract】 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;
【Key words】 primary hyperoxaluria(PH); urinary tract infection; gene diagnosis;
【Key words】 primary hyperoxaluria(PH); urinary tract infection; gene diagnosis;
【基金】 国家自然科学基金(81670692)~~
- 【文献出处】 复旦学报(医学版) ,Fudan University Journal of Medical Sciences , 编辑部邮箱 ,2019年03期
- 【分类号】R692
- 【被引频次】2
- 【下载频次】129