Brazilian family with hyperferritinemia-cataract syndrome: case report

Author(s)

Aline Morgan Alvarenga ^[1] ; Nathália Kozikas da Silva ^[2] ; Rodolfo Delfini Cançado ^[3] ; Luís Eduardo Morato Rebouças de Carvalho ^[4] ; Paulo Caleb Junior Lima Santos ^[5]

Affiliation

^[1] Universidade Federal de São Paulo. Escola Paulista de Medicina - Brasil

^[2] Universidade Federal de São Paulo. Escola Paulista de Medicina - Brasil

^[3] Santa Casa de São Paulo. Faculdade de Ciências Médicas - Brasil

^[4] Santa Casa de São Paulo. Faculdade de Ciências Médicas - Brasil

^[5] Universidade Federal de São Paulo. Escola Paulista de Medicina - Brasil

• Document type: Journal article
• Source: Einstein (São Paulo); v. 20, 2022-10-24.

Abstract

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. (AU)

• FAPESP's process: 19/08338-7 - Pharmacogenomics: implementation and cost-effectiveness evaluation
• Grantee: Paulo Caleb Júnior de Lima Santos
• Support Opportunities: Regular Research Grants