Diagnostics of Wilson–Konovalov disease under the mask of alpha-1-antitrypsin deficiency in pediatric practice: a clinical case and a literature review

Wilson's disease (WD) is an autosomal recessive neurometabolic disorder associated with the buildup of copper in the body and gradual organ degeneration. It results from mutations in the ATP7B gene. The diagnosis and treatment of this potentially curable disease have changed significantly since WD was described more than a century ago. However, early diagnosis of WD remains a medical challenge. Probably, this is due to the fact that it is rare, especially at the level of primary care provision. That is why the key task is to encourage physicians to thoroughly detect atypical or implicit signs of WD, especially in pediatric practice. The paper provides a clinical case of WD in a child followed-up for 5 years and showing concomitant alpha-1-antitrypsin deficit, symptoms of dyspepsia, liver damage with the phenomena of cytolisis and mild jaundice. The ceruloplasmin and copper excretion levels were of little weight. Thorough comprehensive diagnosis involving a multidisciplinary team of physicians and including the specialized imaging methods and genetic testing revealed the signs that were rare, but typical for Wilson's disease, the early diagnosis of which improves the outcome.