First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes

Introduction: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. Case report: A 14-year-old Colombian patient with clinical characteristics of Bruton agamma-globulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. Discussion: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from south-western Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature. (c) 2023 Codon Publications. Published by Codon Publications.

Automated summary

This article reports a rare case of a 14-year-old patient from Colombia who presented with both Bruton agammaglobulinemia and Wilson disease, a combination that has not been reported in the literature.