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随机尿铜/肌酐比值:一种用于诊断儿童威尔逊病的非侵入性工具。

Spot urinary copper/creatinine ratio: a non-invasive tool for diagnosis of Wilson's disease in children.

作者信息

Begum Fahmida, Datta Amit Kumar, Nahid Khan Lamia, Jesmin Tahmina, Musabbir Nadira, Mazumder Md Wahiduzzaman, Fatema Kanij, Rukunuzzaman Md, Karim Abu Sayd Mohammad Bazlul, Chowdhury Faisal, Iktidar Mohammad Azmain

机构信息

Department of Paediatric Gastroenterology and Nutrition, Bangladesh Medical University, Dhaka, Bangladesh.

Department of Paediatric Nephrology, Bangladesh Medical University, Dhaka, Bangladesh.

出版信息

BMJ Paediatr Open. 2025 Sep 4;9(1):e003718. doi: 10.1136/bmjpo-2025-003718.

DOI:10.1136/bmjpo-2025-003718
PMID:40907994
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12414200/
Abstract

Diagnosing Wilson's disease (WD) in children remains a significant challenge. This study evaluated spot urinary copper/creatinine (Cu/Cr) ratio for paediatric WD diagnosis in Bangladesh. 60 children (30 WD, 30 non-WD by Leipzig criteria) were enrolled, and the spot morning urinary Cu/Cr and 24-hour urinary copper were measured. The spot Cu/Cr ratio was significantly higher in patients with WD (median 0.2597 vs 0.0101, p<0.001) and correlated strongly with 24-hour urinary copper (r=0.697). A cut-off of 0.01604 yielded 90% sensitivity and specificity (AUC 0.920). Spot urinary Cu/Cr ratio is an accurate, non-invasive tool for paediatric WD diagnosis, particularly in resource-limited settings. These promising initial findings highlight its potential, though further comprehensive validation in larger and diverse populations is essential to confirm its reliability and generalisability.

摘要

诊断儿童威尔逊病(WD)仍然是一项重大挑战。本研究评估了孟加拉国儿童WD诊断中晨尿铜/肌酐(Cu/Cr)比值。招募了60名儿童(30名WD患者,30名根据莱比锡标准诊断为非WD患者),并测量了晨尿Cu/Cr比值和24小时尿铜含量。WD患者的晨尿Cu/Cr比值显著更高(中位数0.2597对0.0101,p<0.001),且与24小时尿铜含量密切相关(r=0.697)。截断值为0.01604时,敏感性和特异性均为90%(曲线下面积0.920)。晨尿Cu/Cr比值是诊断儿童WD的一种准确、非侵入性工具,尤其适用于资源有限的环境。这些初步的有前景的发现凸显了其潜力,不过在更大且多样化的人群中进行进一步全面验证对于确认其可靠性和普遍性至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e19/12414200/645de6578363/bmjpo-9-1-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e19/12414200/608288d07021/bmjpo-9-1-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e19/12414200/645de6578363/bmjpo-9-1-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e19/12414200/608288d07021/bmjpo-9-1-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e19/12414200/645de6578363/bmjpo-9-1-g002.jpg

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本文引用的文献

1
Wilson's Disease: An Update on the Diagnostic Workup and Management.威尔逊氏病:诊断检查与管理的最新进展
J Clin Med. 2021 Oct 30;10(21):5097. doi: 10.3390/jcm10215097.
2
Characteristics and outcomes of hospitalized patients with Wilson's disease in the United States: A national survey.美国住院威尔逊病患者的特征和结局:一项全国性调查。
Ann Hepatol. 2021 Nov-Dec;25:100362. doi: 10.1016/j.aohep.2021.100362. Epub 2021 Jun 16.
3
The Present and Future Challenges of Wilson's Disease Diagnosis and Treatment.威尔逊氏病诊断与治疗的现状及未来挑战
Clin Liver Dis (Hoboken). 2021 May 1;17(4):267-270. doi: 10.1002/cld.1041. eCollection 2021 Apr.
4
Urinary 24-hour copper excretion at the time of diagnosis in children with Wilson's disease.肝豆状核变性患儿诊断时的24小时尿铜排泄量。
Acta Gastroenterol Belg. 2018 Jul-Sep;81(3):410-414.
5
EASL Clinical Practice Guidelines: Wilson's disease.EASL 临床实践指南:肝豆状核变性。
J Hepatol. 2012 Mar;56(3):671-85. doi: 10.1016/j.jhep.2011.11.007.