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

• Manuela Olaya-Hernandez ^[2] ; Carolina Aristizábal-Henao ^[1] ; Paola Perez-Camacho ^[3] ; Jaime Patiño-Niño ^[1] ; Diego Medina-Valencia ^[4] ; Veronica Botero-Osorio ^[1] ; Harry Pachajoa ^[1]
  1. [1] Universidad Icesi

     Universidad Icesi

     Colombia

     
  2. [2] Department of Allergology, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia; Faculty of Health Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia.
  3. [3] Pediatrics Department, Infectology Service and Hematoncological Transplant Service, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia.
  4. [4] Faculty of Health Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia; Pediatrics Department, Gastroenterology and Hepatology Service, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia.

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• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 51, Nº. 3, 2023, págs. 108-110
• Idioma: inglés
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  • 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 agammaglobulinemia 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 southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature.