Resumo

HURTADO-MAYOR, JORGE ANDRÉS et al. Hereditary coproporhyria. Acta Med Colomb [online]. 2021, vol.46, n.4, pp.46-48.  Epub 30-Abr-2022. ISSN 0120-2448.  https://doi.org/10.36104/amc.2021.1950.

Hereditary coproporphyria (HCP) is a congenital, autosomal dominant disorder which occurs in approximately two to five people per million inhabitants, worldwide. It is a diagnostic challenge in patients with acute abdominal pain. We present the case of a 17-year-old adolescent who debuted with atypical abdominal pain with no clear etiology. Elevated urinary porphobilinogen was found, which was treated with hematin. A genetic study concluded that the adolescent was a heterozygous carrier of the c.717T>A; p.Cys239 pathogenic nonsense mutation in the CPOX gene, leading to a diagnosis of hereditary copropophyria. The available national literature has presented cases diagnosed with acute intermittent porphyria in patients with abdominal pain of unknown origin, without covering the existing classifications of hepatic porphyrias and without detailing the genetic diagnosis; thus, this case is a contribution to the national case studies. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950).

Palavras-chave : hepatic porphyrias; differential diagnosis; abdominal pain; genetic tests; hereditary coproporphyria.

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