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Article

Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.

European journal of gastroenterology & hepatology - 1 Nov 2005

Ferrante Marc, Geubel André P, Fevery Johan, Marogy Ghada, Horsmans Yves, Nevens Frederik

Abstract excerpt

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a relatively rare disorder with an autosomal dominant trait. It can be caused by various mutations within the iron responsive element (IRE) of the L-ferritin gene. These mutations result in an increased translation of L-ferritin mRNA and consequently the accumulation of L-ferritin in different fluids and tissues. HHCS patients present with an isolated...

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PMID: 16215440
DOI: 10.1097/00042737-200511000-00016

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