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The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families
Joint Authors
Capolsini, Ilaria
Caniglia, Maurizio
Cerri, Carla
La Starza, Roberta
Romanelli, Donatella
Perruccio, Katia
Arcioni, Francesco
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-04
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia.
Both had a history of bilateral cataract and epilepsy.
Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder.
Both displayed heterozygosity for C33T mutation in the ferritin light chain iron response element.
A 7-year-old boy from another family was referred to our unit because of hyperferritinemia.
Genetic analyses did not reveal HFE gene mutations.
Family history showed that his mother was also affected by hyperferritinemia without HFE gene mutations.
Magnetic resonance imaging in the mother was positive for iron overload in the spleen.
Cataract was diagnosed in mother and child.
Further genetic investigation revealed the C29G mutation of the ferritin light chain iron response element.
C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS).
The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH), which needs treatment to prevent organ damages by iron overload.
HHCS was definitively diagnosed in all three children.
HHCS is an autosomal dominant disease characterized by increased L-ferritin production.
L-Ferritin aggregates accumulate preferentially in the lens, provoking bilateral cataract since childhood, as unique known organ damage.
Epilepsy in one case and the spleen iron overload in another could suggest the misleading diagnosis of HH.
Consequently, the differential diagnosis between alterations of iron storage system was essential, particularly in children, and required further genetic investigation.
American Psychological Association (APA)
Perruccio, Katia& Arcioni, Francesco& Cerri, Carla& La Starza, Roberta& Romanelli, Donatella& Capolsini, Ilaria…[et al.]. 2013. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families. Case Reports in Pediatrics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-499518
Modern Language Association (MLA)
Perruccio, Katia…[et al.]. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families. Case Reports in Pediatrics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-499518
American Medical Association (AMA)
Perruccio, Katia& Arcioni, Francesco& Cerri, Carla& La Starza, Roberta& Romanelli, Donatella& Capolsini, Ilaria…[et al.]. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families. Case Reports in Pediatrics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-499518
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-499518