Brazilian family with hyperferritinemia-cataract syndrome: case report

• Autor(a) principal: Alvarenga,Aline Morgan
• Data de Publicação: 2022
• Outros Autores: Silva,Nathália Kozikas da, Cançado,Rodolfo Delfini, Carvalho,Luís Eduardo Morato Rebouças de, Santos,Paulo Caleb Junior Lima
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Einstein (São Paulo)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100519
• topic: Ferritins; Cataract; Hyperferritinemia; Mutation; Iron overload; Iron metabolism disorders

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic mutation c.-164C>G was identified in the 5’ untranslated region. In conclusion, genetic testing can be used for accurate diagnosis of hereditary hyperferritinemia-cataract syndrome to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases.