HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis.

Abstract:

BACKGROUND:Previous studies have shown that up to 0.5% of the Caucasian population is homozygous for the HFE gene C282Y mutation. High prevalence values have been reported in Northern Europe. To what extent the presence of this mutation is associated with overt clinical haemochromatosis is unclear. AIM:To determine the prevalence of the C282Y allele in a hospitalised population of an acute medical department, and study the phenotypic expression in the homozygotes. METHODS:Blood samples were obtained from 2027 hospitalised patients; 1900 Caucasians and 127 non-Caucasians. Serum iron, transferrin, and ferritin were measured at admission. The presence of the HFE gene mutation was determined by polymerase chain reaction based analysis. Follow up fasting blood samples were obtained from patients homozygous for the mutation. RESULTS:Fourteen of the 1900 Caucasian subjects (0.74%) were homozygous and 224 (11.8%) were heterozygous for the C282Y mutation, including 32 subjects (1.7%) who were compound heterozygous for the C282Y and H63D mutations. Ten of 14 (71%) homozygous patients displayed mild to moderate biochemical expression of haemochromatosis with a serum ferritin level <550 microg/l, two (14%) patients were "non expressing", and two of five in whom liver biopsies were carried out had cirrhosis, including one with advanced hepatocellular carcinoma. CONCLUSIONS:The prevalence of C282Y homozygosity in a hospitalised population was 0.74%. However, the majority of homozygous patients displayed mild to moderate biochemical expression. C282Y mutation screening may detect individuals that do not develop haemochromatosis. Transferrin saturation and ferritin, which are used as first line screening in haemochromatosis, may be highly unreliable in the presence of an inflammatory process.

journal_name

Gut

journal_title

Gut

authors

Distante S,Berg JP,Lande K,Haug E,Bell H

doi

10.1136/gut.47.4.575

keywords:

subject

Has Abstract

pub_date

2000-10-01 00:00:00

pages

575-9

issue

4

eissn

0017-5749

issn

1468-3288

journal_volume

47

pub_type

杂志文章

相关文献

GUT文献大全
  • Treatment of 'cimetidine-resistant' chronic duodenal ulcers with ranitidine or cimetidine: a randomised multicentre study.

    abstract::Forty patients with endoscopically proven persistent duodenal ulcer who had been treated for six weeks with cimetidine (1 g/day) were randomly allocated to receive a further six weeks' treatment with cimetidine (1 g/day) or ranitidine (300 mg/day). Ulcers healed in 12 of 19 patients given cimetidine (63%) and in 13 of...

    journal_title:Gut

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1136/gut.25.10.1113

    authors: Quatrini M,Basilisco G,Bianchi PA

    更新日期:1984-10-01 00:00:00

  • Thrombotic vascular risk factors in inflammatory bowel disease.

    abstract:BACKGROUND:Thrombosis may be an important effector mechanism in the pathogenesis of Crohn's disease. METHODS:This study therefore investigated the prevalence of independent thrombotic risk factors (factor VII coagulant activity, lipoprotein (a), fibrinogen, plasma triglycerides, and smoking) in patients with Crohn's d...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.38.5.733

    authors: Hudson M,Chitolie A,Hutton RA,Smith MS,Pounder RE,Wakefield AJ

    更新日期:1996-05-01 00:00:00

  • An assessment of the value of serum cholinesterase as a liver function test and in the diagnosis of jaundice.

    abstract::This report assesses the value of cholinesterase (ChE) activity as an indicator of liver function and analyses its usefulness in the diagnosis of jaundice. A rapid method of determination has been used, and alterations in ChE activity in conditions other than liver disease have been studied to permit a fuller and more...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.1.4.294

    authors: BURNETT W

    更新日期:1960-12-01 00:00:00

  • Increased nitric oxide production in lymphatic endothelial cells causes impairment of lymphatic drainage in cirrhotic rats.

    abstract:BACKGROUND AND AIM:The lymphatic network plays a major role in maintaining tissue fluid homoeostasis. Therefore several pathological conditions associated with oedema formation result in deficient lymphatic function. However, the role of the lymphatic system in the pathogenesis of ascites and oedema formation in cirrho...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gutjnl-2011-300703

    authors: Ribera J,Pauta M,Melgar-Lesmes P,Tugues S,Fernández-Varo G,Held KF,Soria G,Tudela R,Planas AM,Fernández-Hernando C,Arroyo V,Jiménez W,Morales-Ruiz M

    更新日期:2013-01-01 00:00:00

  • Risk for hepatocellular carcinoma with respect to hepatitis B virus genotypes B/C, specific mutations of enhancer II/core promoter/precore regions and HBV DNA levels.

    abstract:BACKGROUND/AIM:To examine the risks for hepatocellular carcinoma (HCC) with respect to hepatitis B virus (HBV) genotypes, specific viral mutations (MT), serum HBV DNA levels, and cirrhosis. METHODS:HBV genotypes, 1653/1753/core promoter (CP)/precore MT and HBV DNA levels were determined in 248 HBV patients with HCC an...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.2007.119859

    authors: Yuen MF,Tanaka Y,Shinkai N,Poon RT,But DY,Fong DY,Fung J,Wong DK,Yuen JC,Mizokami M,Lai CL

    更新日期:2008-01-01 00:00:00

  • Butyrate downregulates alpha2beta1 integrin: a possible role in the induction of apoptosis in colorectal cancer cell lines.

    abstract:BACKGROUND:Integrins mediate cell matrix adhesion and regulate cell growth and survival. In colonic epithelial cells, alpha(2)beta(1) integrin controls glandular differentiation and proliferation. Butyrate stimulates differentiation and induces apoptosis in vitro. AIMS:We investigated whether butyrate induction of apo...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.52.5.729

    authors: Buda A,Qualtrough D,Jepson MA,Martines D,Paraskeva C,Pignatelli M

    更新日期:2003-05-01 00:00:00

  • Effectiveness of AFP and ultrasound tests on hepatocellular carcinoma mortality in HCV-infected patients in the USA.

    abstract:BACKGROUND AND AIMS:The effectiveness of surveillance for hepatocellular carcinoma (HCC) in the USA is largely unknown. The objective of this study was to evaluate the effectiveness of HCC surveillance in a national Veterans Administration (VA) practice setting, using the national VA hepatitis C virus (HCV) Clinical Ca...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.2010.230508

    authors: El-Serag HB,Kramer JR,Chen GJ,Duan Z,Richardson PA,Davila JA

    更新日期:2011-07-01 00:00:00

  • Interchange between collagenous and lymphocytic colitis in severe disease with autoimmune associations requiring colectomy: a case report.

    abstract:BACKGROUND:Collagenous colitis and lymphocytic colitis present with a similar clinical picture. Whether these conditions are separate entities or whether they represent different pathological stages of the same condition is an unresolved issue. PATIENT:This is a case of collagenous colitis following a fulminant course...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.38.5.788

    authors: Bowling TE,Price AB,al-Adnani M,Fairclough PD,Menzies-Gow N,Silk DB

    更新日期:1996-05-01 00:00:00

  • Novel evidence for an oncogenic role of microRNA-21 in colitis-associated colorectal cancer.

    abstract:OBJECTIVE:miR-21 was found to be overexpressed in the colon tissues and serum of patients with UC and colorectal cancer (CRC); however, the exact roles of miR-21 in colitis-associated CRC remain unclear. The aim of our study was to investigate the biological mechanisms of miR-21 in colitis-associated colon cancer (CAC)...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gutjnl-2014-308455

    authors: Shi C,Yang Y,Xia Y,Okugawa Y,Yang J,Liang Y,Chen H,Zhang P,Wang F,Han H,Wu W,Gao R,Gasche C,Qin H,Ma Y,Goel A

    更新日期:2016-09-01 00:00:00

  • Ambulatory small intestinal motility in 'diarrhoea' predominant irritable bowel syndrome.

    abstract::Dysmotility of the duodenum and proximal jejunum has been reported in patients with irritable bowel syndrome. This study extended these findings by recording fasting ambulatory motility from electronic strain gauge sensors sited in the jejunum and ileum of eight diarrhoea predominant irritable bowel syndrome patients ...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.35.2.203

    authors: Gorard DA,Libby GW,Farthing MJ

    更新日期:1994-02-01 00:00:00

  • Metal or plastic stents for preoperative biliary drainage in resectable pancreatic cancer.

    abstract:INTRODUCTION:In pancreatic cancer, preoperative biliary drainage (PBD) increases complications compared with surgery without PBD, demonstrated by a recent randomised controlled trial (RCT). This outcome might be related to the plastic endoprosthesis used. Metal stents may reduce the PBD-related complications risk. MET...

    journal_title:Gut

    pub_type: 杂志文章,多中心研究

    doi:10.1136/gutjnl-2014-308762

    authors: Tol JA,van Hooft JE,Timmer R,Kubben FJ,van der Harst E,de Hingh IH,Vleggaar FP,Molenaar IQ,Keulemans YC,Boerma D,Bruno MJ,Schoon EJ,van der Gaag NA,Besselink MG,Fockens P,van Gulik TM,Rauws EA,Busch OR,Gouma DJ

    更新日期:2016-12-01 00:00:00

  • Jaundice due to carbimazole.

    abstract::On three occasions, a 63 year old housewife with hyperthyroidism developed a reaction which included fever, pruritus, malaise, and, on one occasion, jaundice one to 17 days after taking carbimazole. Challenge with carbimazole was followed within 12 hours by abdominal pain, pruritus, and increased serum transaminase le...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.16.11.913

    authors: Lunzer M,Huang SN,Ginsburg J,Ahmed M,Sherlock S

    更新日期:1975-11-01 00:00:00

  • Intracellular electrolyte depletion in patients with ileostomies.

    abstract::Fourteen apparently healthy patients with ileostomies were found to be depleted of total exchangeable sodium and potassium, but had normal serum electrolyte concentrations and normal extracellular fluid and total body water volumes. The low exchangeable sodium and potassiums were thus primarily due to depletion of the...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.19.6.563

    authors: Turnberg LA,Morris AI,Hawker PC,Herman KJ,Shields RA,Horth CE

    更新日期:1978-06-01 00:00:00

  • Lymphocyte subpopulations in adult coeliac disease.

    abstract::Rosetting techniques were used to estimate T and B cell subpopulations in the peripheral blood in patients with treated and untreated adult coeliac disease and in control subjects. In patients with untreated coeliac disease, T cell numbers were significantly lower than in controls or treated patients, although there w...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.19.10.892

    authors: Bullen AW,Losowsky MS

    更新日期:1978-10-01 00:00:00

  • Cerebral blood flow and metabolism in hepatic cirrhosis before and after portacaval shunt operation.

    abstract::It has been demonstrated that cardiac output and pulmonary, gastroduodenal, pancreatic, and splenic blood flow increases after portacaval shunt operations. This report concerns a study of cerebral haemodynamics and metabolism in eight patients with cirrhosis of the liver, examined both before and after portacaval surg...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.10.11.894

    authors: Bianchi Porro G,Maiolo AT,Della Porta P

    更新日期:1969-11-01 00:00:00

  • Flares in chronic hepatitis B patients induced by the host or the virus? Relation to treatment response during Peg-interferon {alpha}-2b therapy.

    abstract:BACKGROUND AND AIMS:Flares are a well known phenomenon during antiviral treatment for chronic hepatitis B. Little is known about the effect of flares on response. We investigated the timing and characteristics of flares, in relation to treatment response (hepatitis B e antigen loss). PATIENTS:A total of 266 patients, ...

    journal_title:Gut

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1136/gut.2004.062208

    authors: Flink HJ,Sprengers D,Hansen BE,van Zonneveld M,de Man RA,Schalm SW,Janssen HL,HBV 99-01 Study Group.

    更新日期:2005-11-01 00:00:00

  • Human calcitonin stimulates salivary amylase output in man.

    abstract::Salivary amylase output in man increases after injection of synthetic human calcitonin. This effect is dose dependent. ...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.17.8.620

    authors: Drack GT,Koelz HR,Blum AL

    更新日期:1976-08-01 00:00:00

  • Impact of sustained virological response on the extrahepatic manifestations of chronic hepatitis C: a meta-analysis.

    abstract:BACKGROUND AND AIMS:Extrahepatic manifestations of HCV are responsible for morbidity and mortality in many chronically infected patients. New, interferon-free antiviral treatment regimens, which present the opportunity to treat all HCV-infected patients, call for a better understanding of the benefits of treating non-c...

    journal_title:Gut

    pub_type: 杂志文章,meta分析

    doi:10.1136/gutjnl-2018-316234

    authors: Cacoub P,Desbois AC,Comarmond C,Saadoun D

    更新日期:2018-11-01 00:00:00

  • Acid, motility, and ulcers: a comparison of cisapride with placebo in the prevention of duodenal ulcer relapse.

    abstract::In a single centre double blind study of 66 patients, the value of cisapride (10 mg twice daily) was compared with placebo in the prevention of duodenal ulcer relapse. Patients who remained ulcer free attended for clinical review every two months and had a mandatory endoscopy at 0, 4, 8, and 12 months or if symptoms s...

    journal_title:Gut

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1136/gut.34.8.1042

    authors: Kerrigan DD,Taylor ME,Read NW,Johnson AG

    更新日期:1993-08-01 00:00:00

  • Effect of the immune modulating agents cyclophosphamide, methotrexate, hydrocortisone, and cyclosporin A on an animal model of granulomatous bowel disease.

    abstract::This study was undertaken to determine the effect of cyclophosphamide, methotrexate, hydrocortisone, and cyclosporin A on a model of granulomatous infiltration in the terminal ileum and draining lymph nodes of the guinea pig. Treatment groups of six animals were used and compared to untreated groups of 12. Epithelioid...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.31.6.674

    authors: Mitchell IC,Turk JL

    更新日期:1990-06-01 00:00:00

  • Serum carcinoembryonic antigen in clinical disorders.

    abstract::Carcinoembryonic antigen (CEA) levels have been measured in the serum of 490 patients and 93 normal controls using the double antibody radioimmunoassay technique. Levels were elevated in 71 of patients with carcinomata of the gastrointestinal tract and in 42% with other types of malignancy. In patients with non-neopla...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.14.10.794

    authors: Booth SN,King JP,Leonard JC,Dykes PW

    更新日期:1973-10-01 00:00:00

  • Octreotide effectively decreases mucosal damage in experimental colitis.

    abstract::The effect of octreotide, a synthetic analogue of somatostatin, on the modulation of the acetic acid model of experimental colitis was examined. Colitis was induced by intracolonic administration of 2 ml of 5% acetic acid. The inflammatory response elicited by the acetic acid resulted in increased colonic synthesis of...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.34.2.264

    authors: Eliakim R,Karmeli F,Okon E,Rachmilewitz D

    更新日期:1993-02-01 00:00:00

  • Pelvic floor neuropathy: a comparative study of diabetes mellitus and idiopathic faecal incontinence.

    abstract::Twenty one patients with diabetic peripheral neuropathy, 18 with idiopathic faecal incontinence and 11 normal controls were studied with techniques of mucosal electrosensitivity, rectal distension for the quantitative assessment of anorectal sensation, and manometric and electromyographic tests for the assessment of a...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.29.6.756

    authors: Rogers J,Levy DM,Henry MM,Misiewicz JJ

    更新日期:1988-06-01 00:00:00

  • Integrative analysis of array-comparative genomic hybridisation and matched gene expression profiling data reveals novel genes with prognostic significance in oesophageal adenocarcinoma.

    abstract:BACKGROUND AND AIMS:The incidence of oesophageal adenocarcinoma (OAC) has been increasing rapidly with a dismal survival rate of less than 20%. Understanding the genomic aberrations and biology of this cancer may enhance disease interventions. This study aimed to use genome-wide genomic and expression data to enhance t...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.2010.234179

    authors: Goh XY,Rees JR,Paterson AL,Chin SF,Marioni JC,Save V,O'Donovan M,Eijk PP,Alderson D,Ylstra B,Caldas C,Fitzgerald RC

    更新日期:2011-10-01 00:00:00

  • Psychological treatments of the irritable bowel syndrome: a review.

    abstract::Psychological treatments are increasingly being used to help patients with the irritable bowel syndrome (IBS), but the efficacy of such treatments is still debated. This review indicates that there are three ways in which they might have been effective in published studies to date; relating bowel symptoms to stress, s...

    journal_title:Gut

    pub_type: 杂志文章,评审

    doi:10.1136/gut.30.11.1601

    authors: Creed F,Guthrie E

    更新日期:1989-11-01 00:00:00

  • Management of bleeding oesophageal varices by draining lymph from the thoracic duct.

    abstract::The thoracic duct was cannulated in six patients who were actively bleeding from varices and had not responded to conservative treatment but draining lymph from the thoracic duct did not control bleeding in five patients. There was no drop in intrasplenic pulp pressure following this procedure when recorded in three o...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.12.1.48

    authors: Datta DV,Singh SA,Patra BS,Saini VK,Chhuttani PN

    更新日期:1971-01-01 00:00:00

  • Vicia faba agglutinin, the lectin present in broad beans, stimulates differentiation of undifferentiated colon cancer cells.

    abstract:BACKGROUND:Dietary lectins can alter the proliferation of colonic cells. Differentiation is regulated by adhesion molecules which, being glycosylated, are targets for lectin binding. AIMS:To examine the effects of dietary lectins on differentiation, adhesion, and proliferation of colorectal cancer cells. METHODS:Diff...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.44.5.709

    authors: Jordinson M,El-Hariry I,Calnan D,Calam J,Pignatelli M

    更新日期:1999-05-01 00:00:00

  • Inhibitors of acid secretion can benefit gastric wound repair independent of luminal pH effects on the site of damage.

    abstract:BACKGROUND AND AIMS:The authors' goal was to measure pH at the gastric surface (pH₀) to understand how acid secretion affects the repair of microscopic injury to the gastric epithelium. METHODS:Microscopic gastric damage was induced by laser light, during confocal/two-photon imaging of pH-sensitive dyes (Cl-NERF, BCEC...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gutjnl-2011-300420

    authors: Demitrack ES,Aihara E,Kenny S,Varro A,Montrose MH

    更新日期:2012-06-01 00:00:00

  • Phlegmonous gastritis: an unusual presenting symptom of Sjögren's syndrome.

    abstract::This case report describes the histological and macroscopic changes seen within a few months in the gastric mucosa of a 28 year old woman patient with upper abdominal symptoms. With hindsight these changes were the first signs of Sjögren's syndrome. ...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.34.8.1142

    authors: van Leeuwen ML,Tjiong HL,van Blankenstein M,Mulder AH,Bakker CM

    更新日期:1993-08-01 00:00:00

  • CO(2) wedged hepatic venography in the evaluation of portal hypertension.

    abstract:BACKGROUND/AIMS/METHODS:During hepatic vein catheterisation, in addition to measurement of hepatic venous pressure gradient (HVPG), iodine wedged retrograde portography can be easily obtained. However, it rarely allows correct visualisation of the portal vein. Recently, CO(2) has been suggested to allow better angiogra...

    journal_title:Gut

    pub_type: 杂志文章

    doi:10.1136/gut.46.6.856

    authors: Debernardi-Venon W,Bandi JC,García-Pagán JC,Moitinho E,Andreu V,Real M,Escorsell A,Montanyá X,Bosch J

    更新日期:2000-06-01 00:00:00