Brazilian family with hyperferritinemia-cataract syndrome: case report
Einstein (Säo Paulo)
;
20: eRC0076, 2022. tab, graf
Article
Dans Anglais
|
LILACS-Express
| LILACS
| ID: biblio-1404660
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Einstein (Säo Paulo)
Thème du journal:
Médicament
Année:
2022
Type:
Article
/
descriptif de projet
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Santa Casa de São Paulo/BR
/
Universidade Federal de São Paulo/BR
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