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Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload

Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS wh...

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Autores principales: Yin, Dan, Kulhalli, Vasu, Walker, Ann P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296220/
https://www.ncbi.nlm.nih.gov/pubmed/24003015
http://dx.doi.org/10.1002/hep.26681
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author Yin, Dan
Kulhalli, Vasu
Walker, Ann P
author_facet Yin, Dan
Kulhalli, Vasu
Walker, Ann P
author_sort Yin, Dan
collection PubMed
description Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.-160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinemia in the absence of iron overload and provides a possible diagnostic schema. (Hepatology 2014;59:1204–1206)
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spelling pubmed-42962202015-01-21 Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload Yin, Dan Kulhalli, Vasu Walker, Ann P Hepatology Clinical Observations in Hepatology Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.-160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinemia in the absence of iron overload and provides a possible diagnostic schema. (Hepatology 2014;59:1204–1206) BlackWell Publishing Ltd 2014-03 2014-01-27 /pmc/articles/PMC4296220/ /pubmed/24003015 http://dx.doi.org/10.1002/hep.26681 Text en © 2014 The Authors. HEPATOLOGY published by Wiley on behalf of the American Association for the Study of Liver Diseases. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Clinical Observations in Hepatology
Yin, Dan
Kulhalli, Vasu
Walker, Ann P
Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
title Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
title_full Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
title_fullStr Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
title_full_unstemmed Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
title_short Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
title_sort raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload
topic Clinical Observations in Hepatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296220/
https://www.ncbi.nlm.nih.gov/pubmed/24003015
http://dx.doi.org/10.1002/hep.26681
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AT walkerannp raisedserumferritinconcentrationinhereditaryhyperferritinemiacataractsyndromeisnotamarkerforironoverload