莱施-奈恩病变异型的延迟诊断

Late diagnosis of Lesch-Nyhan disease variant.

作者信息

Doucet Brian Percy, Jegatheesan Dev, Burke John

机构信息

Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia.

出版信息

BMJ Case Rep. 2013 Dec 10;2013:bcr2013201997. doi: 10.1136/bcr-2013-201997.

DOI:10.1136/bcr-2013-201997

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3863095/

Abstract

A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2 L/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.

摘要

一名30岁男性因高尿酸血症接受检查与治疗。病史包括复发性肾结石和慢性痛风，药物治疗效果不佳。对次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HGPRT）的酶活性进行了检测，发现其缺乏，从而确诊为莱施 - 尼汉病。高尿酸血症采用别嘌醇进行治疗。为预防肾结石，嘱咐患者避免脱水，目标是每日尿量至少2升。开始使用枸橼酸钾进行尿液碱化。该患者被转介接受遗传咨询。本病例讨论了HGPRT缺乏症的遗传学、病理生理学、临床表现、诊断及治疗。

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本文引用的文献

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