Diagnosis for Wilson disease: this disease may not be a rare disease

Excerpt

Wilson disease is an autosomal recessive genetic disorder of abnormal copper metabolism. Until now the estimated prevalence of Wilson disease has been considered about 1 in 30,000 [1, 2]. Previously, physicians sometimes disregarded this disease. Recently, many physicians recognize this disease. The diagnosis of Wilson disease is based on a combination of clinical features, serum ceruloplasmin concentration, urinary copper excretion, examination of Kayser-Fleischer ring, measurement of hepatic copper contents and genetic analysis of ATP7B [1‐3]. There are some guidelines for the diagnosis of this disease and many patients are diagnosed without genetic analysis of ATP7B [1, 2]. Some patients may be excluded as different hepatic diseases without genetic analysis of ATP7B. …