INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

O. A. Zhigaltsova-Kuchinskaya, N. Silivontchik, S. Likhachev, I. Pleshko, A. Klyuchareva, G. D. Sitnik
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Abstract

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.
威尔森氏病确诊患者的初步评估结果
Bacground。威尔逊病(WD)诊断的优化是最具争议的问题之一。客观的102例确诊WD患者临床怀疑WD的初步评估结果的回顾性研究。材料和方法。实验室测试结果和Kaiser-Flescher环(KF环)鉴定在102名确诊为WD的患者中存在临床怀疑。后果在I期,根据低血清铜蓝蛋白和KF环的组合,17名患者(16.7%;95%置信区间10.7-25.1)被定义为具有临床明确的WD,4名患者(3.9%;95%可信区间1.5-9.7)-根据铜蓝蛋白水平的下降。在第二阶段(包括24小时尿铜排泄评估)后,WD的最终诊断率达到24.5%(95%CI 17.2 33.7)。在第三阶段(携带ATP7B基因突变的基因分型)后,达到56.9%(95%CI 47.2–66.0)。54.9%(95%CI 41.4 67.7)的病例血清游离铜增加。结论。在WD的临床怀疑下,最初的结构化眼科、实验室和分子遗传学评估仅确保56.9%(95%CI 56.9;47.2–66.1)的WD诊断。频繁检测血清游离铜增加(54.9%,95%CI 41.4 67.7)允许使用该测试,因为与WD诊断中的24小时尿铜排泄评估相比,该测试更有效。
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