Abstract | INTRODUCTION: Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL). CASE PRESENTATION: Two patients (32 and 49-year-old Caucasian men) from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the FTL 5' region showed previously described mutations within the iron responsive element (FTL c.33 C > A and FTL c.32G > C). CONCLUSION:
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Authors | Arne Kröger, Esther B Bachli, Andrew Mumford, Christoph Gubler |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 5
Pg. 471
(Sep 21 2011)
ISSN: 1752-1947 [Electronic] England |
PMID | 21936912
(Publication Type: Journal Article)
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