* 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.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟