Brazilian family with hyperferritinemia-cataract syndrome: case report
Einstein (São Paulo, Online)
; 20: eRC0076, 2022. tab, graf
Article
en En
|
LILACS-Express
| LILACS
| ID: biblio-1404660
Biblioteca responsable:
BR1.1
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Einstein (São Paulo, Online)
Asunto de la revista:
Medicina
Año:
2022
Tipo del documento:
Article
/
Project document
País de afiliación:
Brasil
Pais de publicación:
Brasil