Haemochromatosis.
Identifieur interne : 001D82 ( Main/Curation ); précédent : 001D81; suivant : 001D83Haemochromatosis.
Auteurs : Lawrie W. Powell [Australie] ; Rebecca C. Seckington [Australie] ; Yves Deugnier [France]Source :
- Lancet (London, England) [ 1474-547X ] ; 2016.
Descripteurs français
- KwdFr :
- Antigènes d'histocompatibilité de classe I (génétique), Consommation d'alcool (effets indésirables), Dépistage génétique, Dépistage systématique (), Dépistage systématique (normes), Europe (épidémiologie), Exposition environnementale, Facteurs de risque, Facteurs sexuels, Fer (métabolisme), Ferritines (sang), Foie (), Foie (métabolisme), Génotype, Hepcidines (déficit), Humains, Hémochromatose (), Hémochromatose (diagnostic), Hémochromatose (génétique), Hémochromatose (physiopathologie), Incertitude, Maladies du foie (), Maladies du foie (physiopathologie), Maladies du foie (étiologie), Mutation, Phlébotomie, Phénotype, Polymorphisme de nucléotide simple, Population d'origine européenne (génétique), Prise en charge de la maladie, Protéine de l'hémochromatose, Protéines membranaires (génétique), Récepteurs à la transferrine (génétique), Transporteurs de cations (génétique).
- MESH :
- diagnostic : Hémochromatose.
- déficit : Hepcidines.
- effets indésirables : Consommation d'alcool.
- génétique : Antigènes d'histocompatibilité de classe I, Hémochromatose, Population d'origine européenne, Protéines membranaires, Récepteurs à la transferrine, Transporteurs de cations.
- métabolisme : Fer, Foie.
- normes : Dépistage systématique.
- physiopathologie : Hémochromatose, Maladies du foie.
- sang : Ferritines.
- épidémiologie : Europe.
- étiologie : Maladies du foie.
- Dépistage génétique, Dépistage systématique, Exposition environnementale, Facteurs de risque, Facteurs sexuels, Foie, Génotype, Humains, Hémochromatose, Incertitude, Maladies du foie, Mutation, Phlébotomie, Phénotype, Polymorphisme de nucléotide simple, Prise en charge de la maladie, Protéine de l'hémochromatose.
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
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pubmed:26975792Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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 wicri:level="1"><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><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Seckington, Rebecca C" sort="Seckington, Rebecca C" uniqKey="Seckington R" first="Rebecca C" last="Seckington">Rebecca C. Seckington</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Deugnier, Yves" sort="Deugnier, Yves" uniqKey="Deugnier Y" first="Yves" last="Deugnier">Yves Deugnier</name><affiliation wicri:level="3"><nlm:affiliation>University Hospital and University of Rennes 1, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University Hospital and University of Rennes 1, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></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><idno type="wicri:Area/PubMed/Curation">001A43</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001A43</idno><idno type="wicri:Area/PubMed/Checkpoint">001A43</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001A43</idno><idno type="wicri:Area/Ncbi/Merge">003280</idno><idno type="wicri:Area/Ncbi/Curation">003280</idno><idno type="wicri:Area/Ncbi/Checkpoint">003280</idno><idno type="wicri:Area/Main/Merge">001D79</idno><idno type="wicri:Area/Main/Curation">001D82</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 wicri:level="1"><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><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></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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level="j">Lancet (London, England)</title><idno type="eISSN">1474-547X</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alcohol Drinking (adverse effects)</term><term>Cation Transport Proteins (genetics)</term><term>Disease Management</term><term>Environmental Exposure</term><term>Europe (epidemiology)</term><term>European Continental Ancestry Group (genetics)</term><term>Ferritins (blood)</term><term>Genetic Testing</term><term>Genotype</term><term>Hemochromatosis (diagnosis)</term><term>Hemochromatosis (genetics)</term><term>Hemochromatosis (physiopathology)</term><term>Hemochromatosis (therapy)</term><term>Hemochromatosis Protein</term><term>Hepcidins (deficiency)</term><term>Histocompatibility Antigens Class I (genetics)</term><term>Humans</term><term>Iron (metabolism)</term><term>Liver (drug effects)</term><term>Liver (metabolism)</term><term>Liver Diseases (etiology)</term><term>Liver Diseases (physiopathology)</term><term>Liver Diseases (therapy)</term><term>Mass Screening (methods)</term><term>Mass Screening (standards)</term><term>Membrane Proteins (genetics)</term><term>Mutation</term><term>Phenotype</term><term>Phlebotomy</term><term>Polymorphism, Single Nucleotide</term><term>Receptors, Transferrin (genetics)</term><term>Risk Factors</term><term>Sex Factors</term><term>Uncertainty</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Antigènes d'histocompatibilité de classe I (génétique)</term><term>Consommation d'alcool (effets indésirables)</term><term>Dépistage génétique</term><term>Dépistage systématique ()</term><term>Dépistage systématique (normes)</term><term>Europe (épidémiologie)</term><term>Exposition environnementale</term><term>Facteurs de risque</term><term>Facteurs sexuels</term><term>Fer (métabolisme)</term><term>Ferritines (sang)</term><term>Foie ()</term><term>Foie (métabolisme)</term><term>Génotype</term><term>Hepcidines (déficit)</term><term>Humains</term><term>Hémochromatose ()</term><term>Hémochromatose (diagnostic)</term><term>Hémochromatose (génétique)</term><term>Hémochromatose (physiopathologie)</term><term>Incertitude</term><term>Maladies du foie ()</term><term>Maladies du foie (physiopathologie)</term><term>Maladies du foie (étiologie)</term><term>Mutation</term><term>Phlébotomie</term><term>Phénotype</term><term>Polymorphisme de nucléotide simple</term><term>Population d'origine européenne (génétique)</term><term>Prise en charge de la maladie</term><term>Protéine de l'hémochromatose</term><term>Protéines membranaires (génétique)</term><term>Récepteurs à la transferrine (génétique)</term><term>Transporteurs de cations (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Ferritins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Hepcidins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cation Transport Proteins</term><term>Histocompatibility Antigens Class I</term><term>Membrane Proteins</term><term>Receptors, Transferrin</term></keywords><keywords scheme="MESH" qualifier="adverse effects" xml:lang="en"><term>Alcohol Drinking</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hemochromatosis</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Hémochromatose</term></keywords><keywords scheme="MESH" qualifier="drug effects" xml:lang="en"><term>Liver</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Hepcidines</term></keywords><keywords scheme="MESH" qualifier="effets indésirables" xml:lang="fr"><term>Consommation d'alcool</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Europe</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Liver Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term><term>Hemochromatosis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes d'histocompatibilité de classe I</term><term>Hémochromatose</term><term>Population d'origine européenne</term><term>Protéines membranaires</term><term>Récepteurs à la transferrine</term><term>Transporteurs de cations</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term><term>Liver</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Mass Screening</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Fer</term><term>Foie</term></keywords><keywords scheme="MESH" qualifier="normes" xml:lang="fr"><term>Dépistage systématique</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Hémochromatose</term><term>Maladies du foie</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Hemochromatosis</term><term>Liver Diseases</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Ferritines</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Mass Screening</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Hemochromatosis</term><term>Liver Diseases</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Europe</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Maladies du foie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Disease Management</term><term>Environmental Exposure</term><term>Genetic Testing</term><term>Genotype</term><term>Hemochromatosis Protein</term><term>Humans</term><term>Mutation</term><term>Phenotype</term><term>Phlebotomy</term><term>Polymorphism, Single Nucleotide</term><term>Risk Factors</term><term>Sex Factors</term><term>Uncertainty</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Dépistage génétique</term><term>Dépistage systématique</term><term>Exposition environnementale</term><term>Facteurs de risque</term><term>Facteurs sexuels</term><term>Foie</term><term>Génotype</term><term>Humains</term><term>Hémochromatose</term><term>Incertitude</term><term>Maladies du foie</term><term>Mutation</term><term>Phlébotomie</term><term>Phénotype</term><term>Polymorphisme de nucléotide simple</term><term>Prise en charge de la maladie</term><term>Protéine de l'hémochromatose</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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