Abstract:
: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 hyperferritinaemia in the absence of any sign of iron overload. Early onset bilateral cataract, probably due to accumulation of ferritin crystals in the lens, is the only presenting clinical manifestation. Internists, especially gastrohepatologists, should be aware of this syndrome and differentiate it from haemochromatosis which is much more frequent, in order to avoid unnecessary imaging procedures, liver biopsies and an eventual venesection therapy, which will only lead to microcytic anaemia. In the present paper we report the first cases with HHCS diagnosed in Belgium. At diagnosis, the seven known affected members of three different families had ferritin levels between 603 and 3432 microg/l (normal < 150 microg/l), and this in combination with normal iron and transferrin values. All of them were known with early-onset bilateral cataract and our postulated diagnosis of HHCS was confirmed after genetic sequencing of the L-ferritin gene, which showed a C39U point mutation in the first family, and an A40G point mutation in the IRE loop segment in the two other families. The other investigated members of the three families had normal ferritin values, no history of early-onset cataract and genetic analyses could not reveal a mutation in the IRE of their L-ferritin gene. In current clinical practice, gastroenterologists should remember that elevated ferritin levels in the absence of documented iron overload is not haemochromatosis.
journal_name
Eur J Gastroenterol Hepatoljournal_title
European journal of gastroenterology & hepatologyauthors
Ferrante M,Geubel AP,Fevery J,Marogy G,Horsmans Y,Nevens Fdoi
10.1097/00042737-200511000-00016subject
Has Abstractpub_date
2005-11-01 00:00:00pages
1247-53issue
11eissn
0954-691Xissn
1473-5687pii
00042737-200511000-00016journal_volume
17pub_type
杂志文章,评审abstract:OBJECTIVES:Discrimination of biliary atresia (BA) from other causes of neonatal cholestasis (NC) is challenging. We aimed to analyze the clinicopathological findings in cholestatic infants who were provisionally diagnosed with BA and then excluded by intraoperative cholangiography compared with those with a definitive ...
journal_title:European journal of gastroenterology & hepatology
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abstract:OBJECTIVE:There is currently no reliable tool for providing a global measurement of the severity of dyspepsia in patients with a variety of upper gastrointestinal disorders. We have designed a questionnaire which records frequency of symptoms, effect on routine activities, time off work, frequency of medical consultati...
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