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Case Reports
. 2022 Oct 24:20:eRC0076.
doi: 10.31744/einstein_journal/2022RC0076. eCollection 2022.

Brazilian family with hyperferritinemia-cataract syndrome: case report

Aline Morgan Alvarenga  1 , Nathália Kozikas da Silva  1 , Rodolfo Delfini Cançado  2 , Luís Eduardo Morato Rebouças de Carvalho  2 , Paulo Caleb Junior Lima Santos  1
Affiliations
Case Reports

Brazilian family with hyperferritinemia-cataract syndrome: case report

Aline Morgan Alvarenga et al. Einstein (Sao Paulo). .

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.

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Figures

Figure 1
Figure 1. Ferritin light chain gene sequencing results. Patients #01, #02, #03: heterozygous genotype for the c.-164C>G pathogenic mutation
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts