Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson’s Disease

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

“…A recent Chinese study found that Cp levels <12 mg/dL are strongly indicative of a diagnosis of WD. 32 Here, 200 patients had Cp values available, among them 77 (38.5%) had moderate Cp values of 10-20 mg/dL and an additional 16 (8%) had normal Cp levels >20 mg/ dL; 92.9% of patients with Cp <10 mg/dL had ATP7B concentrations below diagnostic cut-offs (Figure 4A-C). When Cp levels were moderately reduced, 91.6% of patients would be identified by ATP7B analysis.…”

“…Like the method-dependent cut-offs used for Cp, 24-hour urinary copper 32 and hepatic copper for diagnosing WD, 33,34 measurement of ATP7B peptides require validation in the population in which it will be used. This will aid in generating clearly defined cut-offs.…”

Challenges and suggestions for precise diagnosis and treatment of Wilson’s disease

“…Previous studies showed that ceruloplasmin level less than 80 mg/L is a strong evidence for clinical diagnosis of WD patients [9]. Previous analysis from large samples found that 97.5% of WD patients with a clear genetic diagnosis had an average ceruloplasmin level below 120 mg/L [10], indicating that this threshold provides guidance for clinical WD diagnosis. In addition, it should be noted by clinicians that a few WD patients can have normal ceruloplasmin levels, especially in the acute liver disease stage, or during other inflammatory periods or during pregnancy [11].…”

“…If 24-hour urine copper level is higher than 100 μg and with normal creatinine clearance rate, WD should be suspected and further confirmed. If children with unknown liver function abnormalities having urine copper level higher than 40 μg [10,12], clinicians should be very cautious and provide ATP7B genetic screening for suspected children.…”

Initial Assessment Findings in Patients With Confirmed Wilson’s Disease

“…Вызвана гомозиготными или компаундными гетерозиготными мутациями гена ATP7B, описано более 800 мутаций, ассоциированных с БВК. Манифестирует заболевание широким спектром симптомов со стороны печени (от отклонения лабораторных тестов до клинических проявлений цирроза печени, его осложнений и острой печёночной недостаточности), неврологических нарушений, может протекать и бессимптомно [2,3,4].…”