Predominant ankle arthropathy in hereditary haemochromatosis
نویسندگان
چکیده
منابع مشابه
Hereditary 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 ...
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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...
متن کاملUltrasound verified inflammation and structural damage in patients with hereditary haemochromatosis-related arthropathy
BACKGROUND Chronic arthropathy occurs in approximately two thirds of patients with hereditary haemochromatosis (HH). The aim was to study inflammatory and structural lesions in patients with HH with (HH-A) and without arthropathy (HH-WA) using ultrasonography. METHODS This was a cross-sectional study of 26 patients with HH-A, 24 with HH-WA and 37 with hand osteoarthritis (HOA). Clinical exami...
متن کاملScreening for hereditary haemochromatosis.
Hereditary haemochromatosis (HH) is a common autosomal recessive disorder of iron overload in Caucasian populations. Clinical manifestations usually occur in individuals homozygous for the C282Y mutation in the HFE gene product and who have developed significant iron loading. Current screening methods can detect affected individuals either prior to or early during disease evolution, enabling ea...
متن کاملHomozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
A candidate gene for hereditary haemochromatosis, HLA-H, has recently been presented. Two missense mutations in the HLA-H gene sequence are predicted to account for nearly 90% of all cases of the disease. The aim of this study was to correlate the presence of these missense mutations with the expressivity of the disease, as assessed by standard biochemical evaluation of serum iron parameters. D...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 1999
ISSN: 1460-2172
DOI: 10.1093/rheumatology/38.4.378