Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis
نویسندگان
چکیده
منابع مشابه
Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal...
متن کاملTwo Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.
Hereditary haemochromatosis is an autosomal recessive disorder, leading to progressive iron overload, which is very common among the Caucasian population. In the vast majority of the cases, the hereditary iron overload is caused by mutations in the HFE gene. Most prominently this is the homozygous Cys282Tyr mutation. We report two Dutch families in which both propositi were found to be heterozy...
متن کاملDiagnosis and management of hereditary haemochromatosis.
Maastricht University, School for Public Health and Primary Care (CAPHRI), Department of General Practice, 6200 MD Maastricht, Netherlands Department of Internal Medicine and Gastroenterology, Atrium Medisch Centrum Parkstad, 6401 CX Heerlen, Netherlands Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands Correspondence to: M A van Bokhov...
متن کاملHereditary haemochromatosis.
Haemochromatosis should currently refer to hereditary iron overload disorders presenting with a definite and common phenotype characterised by normal erythropoiesis, increased transferrin saturation and ferritin and primarily parenchymal iron deposition related to innate low (but normally regulated) production of the hepatic peptide hormone hepcidin. Since the discovery of the haemochromatosis ...
متن کاملHereditary haemochromatosis
The May issue of the BJGP made my mouth fall open with disbelief. What was the leading article about?1 The latest NSF? The GPC resignation ballot? The Shipman inquiry? The recent spate of TB outbreaks? The RCGP’s ideas about GP specialists and intermediate care? 24/48 hour access? NICE and the relevance of its guidance to Primary Care? What to do with your free copy of Clinical Evidence? No. It...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 2003
ISSN: 0032-5473
DOI: 10.1136/pmj.79.936.600