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.
Highlights
After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of Wilson’s disease (WD) reached 24,5%
Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9%
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
Summary
Ретроспективная оценка результатов исследования при первом возникшем клиническом подозрении о заболевании у 102 пациентов с установленной БВК. Результаты лабораторных тестов и выявление колец Кайзера-Флейшера (ККФ) при первом возникшем клиническом подозрении о заболевании у 102 пациентов с установленной БВК. После II этапа, включавшего определение суточной экскреции меди с мочой, частота определенного диагноза БВК достигла 24,5% (95% ДИ 17,2 33,7). При первом возникшем клиническом подозрении на БВК первичное поэтапное офтальмологическое, лабораторное и молекулярно-генетическое исследование позволило установить диагноз БВК только в 56,9% (95% ДИ 56,9; 47,2-66,1) случаев. Достаточно высокая частота выявления повышенного уровня свободной меди в сыворотке крови (54,9%, 95% ДИ 41,4 67,7) дает основание использовать тест в силу большей доступности в сравнении с определением суточной экскреции меди с мочой при диагностике БВК.
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