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تعداد آیتم قابل مشاهده باقیمانده : -8 مورد

Confirming the diagnosis of Wilson disease in patients with Kayser-Fleischer rings

Confirming the diagnosis of Wilson disease in patients with Kayser-Fleischer rings
This algorithm summarizes an approach to evaluating for Wilson disease in symptomatic patients (eg, elevated aminotransferases, low alkaline phosphatase, hepatomegaly) who have Kayser-Fleischer rings. This algorithm is intended for use in conjunction with UpToDate content on the clinical features and diagnosis of Wilson disease.

* Biallelic, pathogenic (disease-causing) variants affecting both ATP7B alleles are required to develop Wilson disease. Typically, one pathogenic variant is inherited from each parent. Most patients with Wilson disease are compound heterozygotes.

¶ For patients with discordant findings (ie, symptomatic patient with Kayser-Fleischer ring, elevated urinary copper excretion but normal ceruloplasmin), we typically obtain genetic testing also because normal ceruloplasmin is uncommon in patients with Wilson disease.
Adapted from: Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology 2022.
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