Haemochromatosis.
Identifieur interne : 001A67 ( PubMed/Corpus ); précédent : 001A66; suivant : 001A68Haemochromatosis.
Auteurs : Lawrie W. Powell ; Rebecca C. Seckington ; Yves DeugnierSource :
- Lancet (London, England) [ 1474-547X ] ; 2016.
English descriptors
- KwdEn :
- Alcohol Drinking (adverse effects), Cation Transport Proteins (genetics), Disease Management, Environmental Exposure, Europe (epidemiology), European Continental Ancestry Group (genetics), Ferritins (blood), Genetic Testing, Genotype, Hemochromatosis (diagnosis), Hemochromatosis (genetics), Hemochromatosis (physiopathology), Hemochromatosis (therapy), Hemochromatosis Protein, Hepcidins (deficiency), Histocompatibility Antigens Class I (genetics), Humans, Iron (metabolism), Liver (drug effects), Liver (metabolism), Liver Diseases (etiology), Liver Diseases (physiopathology), Liver Diseases (therapy), Mass Screening (methods), Mass Screening (standards), Membrane Proteins (genetics), Mutation, Phenotype, Phlebotomy, Polymorphism, Single Nucleotide, Receptors, Transferrin (genetics), Risk Factors, Sex Factors, Uncertainty.
- MESH :
- chemical , blood : Ferritins.
- chemical , deficiency : Hepcidins.
- chemical , genetics : Cation Transport Proteins, Histocompatibility Antigens Class I, Membrane Proteins, Receptors, Transferrin.
- adverse effects : Alcohol Drinking.
- diagnosis : Hemochromatosis.
- drug effects : Liver.
- epidemiology : Europe.
- etiology : Liver Diseases.
- genetics : European Continental Ancestry Group, Hemochromatosis.
- chemical , metabolism : Iron, Liver.
- methods : Mass Screening.
- physiopathology : Hemochromatosis, Liver Diseases.
- standards : Mass Screening.
- therapy : Hemochromatosis, Liver Diseases.
- Disease Management, Environmental Exposure, Genetic Testing, Genotype, Hemochromatosis Protein, Humans, Mutation, Phenotype, Phlebotomy, Polymorphism, Single Nucleotide, Risk Factors, Sex Factors, Uncertainty.
Abstract
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.
DOI: 10.1016/S0140-6736(15)01315-X
PubMed: 26975792
Links to Exploration step
pubmed:26975792Le document en format XML
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Seckington</name><affiliation><nlm:affiliation>Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Deugnier, Yves" sort="Deugnier, Yves" uniqKey="Deugnier Y" first="Yves" last="Deugnier">Yves Deugnier</name><affiliation><nlm:affiliation>University Hospital and University of Rennes 1, Rennes, France.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26975792</idno><idno type="pmid">26975792</idno><idno type="doi">10.1016/S0140-6736(15)01315-X</idno><idno type="wicri:Area/PubMed/Corpus">001A67</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001A67</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Haemochromatosis.</title><author><name sortKey="Powell, Lawrie W" sort="Powell, Lawrie W" uniqKey="Powell L" first="Lawrie W" last="Powell">Lawrie W. Powell</name><affiliation><nlm:affiliation>Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane, Australia. Electronic address: lawrie.powell@qimrberghofer.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Seckington, Rebecca C" sort="Seckington, Rebecca C" uniqKey="Seckington R" first="Rebecca C" last="Seckington">Rebecca C. 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This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26975792</PMID><DateCreated><Year>2016</Year><Month>08</Month><Day>18</Day></DateCreated><DateCompleted><Year>2016</Year><Month>10</Month><Day>05</Day></DateCompleted><DateRevised><Year>2017</Year><Month>01</Month><Day>03</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1474-547X</ISSN><JournalIssue CitedMedium="Internet"><Volume>388</Volume><Issue>10045</Issue><PubDate><Year>2016</Year><Month>Aug</Month><Day>13</Day></PubDate></JournalIssue><Title>Lancet (London, England)</Title><ISOAbbreviation>Lancet</ISOAbbreviation></Journal><ArticleTitle>Haemochromatosis.</ArticleTitle><Pagination><MedlinePgn>706-16</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/S0140-6736(15)01315-X</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0140-6736(15)01315-X</ELocationID><Abstract><AbstractText>Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.</AbstractText><CopyrightInformation>Copyright © 2016 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Powell</LastName><ForeName>Lawrie W</ForeName><Initials>LW</Initials><AffiliationInfo><Affiliation>Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane, Australia. Electronic address: lawrie.powell@qimrberghofer.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Seckington</LastName><ForeName>Rebecca C</ForeName><Initials>RC</Initials><AffiliationInfo><Affiliation>Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Deugnier</LastName><ForeName>Yves</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>University Hospital and University of Rennes 1, Rennes, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>03</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Lancet</MedlineTA><NlmUniqueID>2985213R</NlmUniqueID><ISSNLinking>0140-6736</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D027682">Cation Transport Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C103673">HFE protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000071020">Hemochromatosis Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D064451">Hepcidins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015395">Histocompatibility Antigens Class I</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008565">Membrane Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011990">Receptors, Transferrin</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C503640">TFR2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C409881">metal transporting protein 1</NameOfSubstance></Chemical><Chemical><RegistryNumber>9007-73-2</RegistryNumber><NameOfSubstance UI="D005293">Ferritins</NameOfSubstance></Chemical><Chemical><RegistryNumber>E1UOL152H7</RegistryNumber><NameOfSubstance UI="D007501">Iron</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000428" MajorTopicYN="N">Alcohol Drinking</DescriptorName><QualifierName UI="Q000009" MajorTopicYN="Y">adverse effects</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D027682" 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