Brazilian family with hyperferritinemia-cataract syndrome: case report.

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.

• Authors: Aline Morgan Alvarenga, Nathália Kozikas da Silva, Rodolfo Delfini Cançado, Luís Eduardo Morato Rebouças de Carvalho, Paulo Caleb Junior Lima Santos
• Journal: Einstein (Sao Paulo, Brazil) (Einstein (Sao Paulo)) Vol. 20 Pg. eRC0076 ( 2022) ISSN: 2317-6385 [Electronic] Brazil
• PMID: 36287435 (Publication Type: Case Reports)

Chemical References

• Apoferritins
• 5' Untranslated Regions
• Iron

Topics

• Humans
• Apoferritins (genetics)
• Hemochromatosis (genetics)
• 5' Untranslated Regions
• Brazil
• Cataract (diagnosis, genetics)
• Iron
• Pedigree