Mutación rara del gen PPOX en un paciente con Porfiria Variegata: reporte de un caso en Perú

Augusto  Kamimoto-Rodriguez; Brenda  Caira-Chuquineyra; Daniel  Fernandez-Guzman

doi:10.35434/rcmhnaaa.2023.162.1722

Authors

Augusto Kamimoto-Rodriguez Servicio de Medicina Interna, Hospital III Goyeneche, Arequipa, Perú.
Brenda Caira-Chuquineyra Grupo Peruano de Investigación Epidemiológica, Unidad de Investigación para la Generación y Síntesis de Evidencia en Salud, Universidad San Ignacio de Loyola, Lima, Perú; Facultad de Medicina, Universidad Nacional de San Agustín de Arequipa, Arequipa, Perú.
Daniel Fernandez-Guzman Carrera de Medicina Humana, Universidad Científica del Sur, Lima, Perú.

DOI:

https://doi.org/10.35434/rcmhnaaa.2023.162.1722

Keywords:

Hepatic Porphyrias, Variegate Porphyria, Protoporphyrinogen Oxidase, Inappropriate ADH syndrome, Peru

Abstract

Introduction: Variegate porphyria (VP) is a rare disease, resulting from mutation of the protoporphyrinogen oxidase (PPOX) enzyme gene, and it is characterized by cutaneous manifestations and acute neuro-visceral symptoms. Case report: We describe the case of a 21-year-old woman from Peruvian highlands. The patient came to the emergency department for abdominal pain, quadriparesis and reddish urine. The patient also presented the syndrome of inappropriate secretion of antidiuretic hormone (SIADH), motor neuropathy and respiratory failure. These clinical features were diagnosed as consequence of a porphyria crisis. The specific diagnosis was made with an elevated urinary porphobilinogen level (185.7 mg/24hours) and genetic analysis, which showed a rare pathogenic variant of the PPOX gene (nucleotide change: c.78C>A and protein change: p.Cys26*). The patient required intensive care until the administration of specific treatment with hemin. Conclusion: We report a case of VP with a pathogenic variant in the PPOX gene.

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Author Biographies

Augusto Kamimoto-Rodriguez, Servicio de Medicina Interna, Hospital III Goyeneche, Arequipa, Perú.

1. Internal medicine physician

Brenda Caira-Chuquineyra, Grupo Peruano de Investigación Epidemiológica, Unidad de Investigación para la Generación y Síntesis de Evidencia en Salud, Universidad San Ignacio de Loyola, Lima, Perú; Facultad de Medicina, Universidad Nacional de San Agustín de Arequipa, Arequipa, Perú.

1. Student of human medicine

Daniel Fernandez-Guzman, Carrera de Medicina Humana, Universidad Científica del Sur, Lima, Perú.

1. Physician

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