[Hypophosphatasia].
Identifieur interne : 000352 ( Main/Exploration ); précédent : 000351; suivant : 000353[Hypophosphatasia].
Auteurs : C. Beck [Allemagne] ; H. Morbach ; M. Stenzel ; P. Schneider ; H. Collmann ; G. Girschick ; H J GirschickSource :
- Klinische Padiatrie [ 1439-3824 ]
Descripteurs français
- KwdFr :
- Aberrations des chromosomes (MeSH), Communication interdisciplinaire (MeSH), Comportement coopératif (MeSH), Dysplasies osseuses (diagnostic), Dysplasies osseuses (génétique), Dysplasies osseuses (thérapie), Enfant (MeSH), Enfant d'âge préscolaire (MeSH), Gènes récessifs (génétique), Humains (MeSH), Hypophosphatasie (diagnostic), Hypophosphatasie (génétique), Hypophosphatasie (thérapie), Isoenzymes (déficit), Isoenzymes (génétique), Nourrisson (MeSH), Phosphatase alcaline (déficit), Phosphatase alcaline (génétique), Phénotype (MeSH), Équipe soignante (MeSH).
- MESH :
- diagnostic : Dysplasies osseuses, Hypophosphatasie.
- déficit : Isoenzymes, Phosphatase alcaline.
- génétique : Dysplasies osseuses, Gènes récessifs, Hypophosphatasie, Isoenzymes, Phosphatase alcaline.
- thérapie : Dysplasies osseuses, Hypophosphatasie.
- Aberrations des chromosomes, Communication interdisciplinaire, Comportement coopératif, Enfant, Enfant d'âge préscolaire, Humains, Nourrisson, Phénotype, Équipe soignante.
English descriptors
- KwdEn :
- Alkaline Phosphatase (deficiency), Alkaline Phosphatase (genetics), Bone Diseases, Developmental (diagnosis), Bone Diseases, Developmental (genetics), Bone Diseases, Developmental (therapy), Child (MeSH), Child, Preschool (MeSH), Chromosome Aberrations (MeSH), Cooperative Behavior (MeSH), Genes, Recessive (genetics), Humans (MeSH), Hypophosphatasia (diagnosis), Hypophosphatasia (genetics), Hypophosphatasia (therapy), Infant (MeSH), Interdisciplinary Communication (MeSH), Isoenzymes (deficiency), Isoenzymes (genetics), Patient Care Team (MeSH), Phenotype (MeSH).
- MESH :
- chemical , deficiency : Alkaline Phosphatase, Isoenzymes.
- chemical , genetics : Alkaline Phosphatase, Isoenzymes.
- diagnosis : Bone Diseases, Developmental, Hypophosphatasia.
- genetics : Bone Diseases, Developmental, Genes, Recessive, Hypophosphatasia.
- therapy : Bone Diseases, Developmental, Hypophosphatasia.
- Child, Child, Preschool, Chromosome Aberrations, Cooperative Behavior, Humans, Infant, Interdisciplinary Communication, Patient Care Team, Phenotype.
Abstract
Hypophosphatasia (HP) is an inborn error of bone metabolism transmitted predominantly as an autosomal-recessive trait. It is characterized by a reduced activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSAP) and elevated concentrations of its substrates, including pyrophosphates. Clinical symptoms include defective bone mineralisation with bone deformities, fractures and as recently defined chronic non-bacterial osteomyelitis. Renal damage due to calcification, craniosynostosis and dental abnormalities with premature loss of dentition are further symptoms, which have been described as characteristic in the ESPED inquiry of 2004. Knowledge about the mechanisms underlying cell activation leading to inflammation and tissue destruction is still limited in HP. Recent investigations have provided evidence that calcium pyrophosphate crystals are essentially involved in activating inflammatory signal transduction pathways via different receptors of the innate immune system. Laboratory assays, genetic counselling and testing, and radiologic imaging can confirm the diagnosis. Because symptoms are highly variable in their clinical expression, patients should be followed by a HP-experienced multidisciplinary team (paediatrician, radiologist, orthopedist, neurosurgeon, dentist). At the moment symptomatic support and treatment is most important because a causative therapy, e. g. enzyme replacement therapy, is not yet available.
DOI: 10.1055/s-0029-1220718
PubMed: 19629901
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
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Beck</name><affiliation wicri:level="3"><nlm:affiliation>Bereiche Immunologie, Infektiologie, Hämostasiologie, Rheumatologie, Osteologie und Gastroenterologie, Kinderklinik und Poliklinik des Universitätsklinikums, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Bereiche Immunologie, Infektiologie, Hämostasiologie, Rheumatologie, Osteologie und Gastroenterologie, Kinderklinik und Poliklinik des Universitätsklinikums, Julius-Maximilians-Universität Würzburg, Würzburg</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Basse-Franconie</region><settlement type="city">Wurtzbourg</settlement></placeName></affiliation></author><author><name sortKey="Morbach, H" sort="Morbach, H" uniqKey="Morbach H" first="H" last="Morbach">H. Morbach</name></author><author><name sortKey="Stenzel, M" sort="Stenzel, M" uniqKey="Stenzel M" first="M" last="Stenzel">M. Stenzel</name></author><author><name sortKey="Schneider, P" sort="Schneider, P" uniqKey="Schneider P" first="P" last="Schneider">P. Schneider</name></author><author><name sortKey="Collmann, H" sort="Collmann, H" uniqKey="Collmann H" first="H" last="Collmann">H. Collmann</name></author><author><name sortKey="Girschick, G" sort="Girschick, G" uniqKey="Girschick G" first="G" last="Girschick">G. Girschick</name></author><author><name sortKey="Girschick, H J" sort="Girschick, H J" uniqKey="Girschick H" first="H J" last="Girschick">H J Girschick</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009 Jul-Aug</date><idno type="RBID">pubmed:19629901</idno><idno type="pmid">19629901</idno><idno type="doi">10.1055/s-0029-1220718</idno><idno type="wicri:Area/Main/Corpus">000359</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000359</idno><idno type="wicri:Area/Main/Curation">000359</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000359</idno><idno type="wicri:Area/Main/Exploration">000359</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Hypophosphatasia].</title><author><name sortKey="Beck, C" sort="Beck, C" uniqKey="Beck C" first="C" last="Beck">C. Beck</name><affiliation wicri:level="3"><nlm:affiliation>Bereiche Immunologie, Infektiologie, Hämostasiologie, Rheumatologie, Osteologie und Gastroenterologie, Kinderklinik und Poliklinik des Universitätsklinikums, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Bereiche Immunologie, Infektiologie, Hämostasiologie, Rheumatologie, Osteologie und Gastroenterologie, Kinderklinik und Poliklinik des Universitätsklinikums, Julius-Maximilians-Universität Würzburg, Würzburg</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Basse-Franconie</region><settlement type="city">Wurtzbourg</settlement></placeName></affiliation></author><author><name sortKey="Morbach, H" sort="Morbach, H" uniqKey="Morbach H" first="H" last="Morbach">H. Morbach</name></author><author><name sortKey="Stenzel, M" sort="Stenzel, M" uniqKey="Stenzel M" first="M" last="Stenzel">M. Stenzel</name></author><author><name sortKey="Schneider, P" sort="Schneider, P" uniqKey="Schneider P" first="P" last="Schneider">P. Schneider</name></author><author><name sortKey="Collmann, H" sort="Collmann, H" uniqKey="Collmann H" first="H" last="Collmann">H. Collmann</name></author><author><name sortKey="Girschick, G" sort="Girschick, G" uniqKey="Girschick G" first="G" last="Girschick">G. Girschick</name></author><author><name sortKey="Girschick, H J" sort="Girschick, H J" uniqKey="Girschick H" first="H J" last="Girschick">H J Girschick</name></author></analytic><series><title level="j">Klinische Padiatrie</title><idno type="eISSN">1439-3824</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alkaline Phosphatase (deficiency)</term><term>Alkaline Phosphatase (genetics)</term><term>Bone Diseases, Developmental (diagnosis)</term><term>Bone Diseases, Developmental (genetics)</term><term>Bone Diseases, Developmental (therapy)</term><term>Child (MeSH)</term><term>Child, Preschool (MeSH)</term><term>Chromosome Aberrations (MeSH)</term><term>Cooperative Behavior (MeSH)</term><term>Genes, Recessive (genetics)</term><term>Humans (MeSH)</term><term>Hypophosphatasia (diagnosis)</term><term>Hypophosphatasia (genetics)</term><term>Hypophosphatasia (therapy)</term><term>Infant (MeSH)</term><term>Interdisciplinary Communication (MeSH)</term><term>Isoenzymes (deficiency)</term><term>Isoenzymes (genetics)</term><term>Patient Care Team (MeSH)</term><term>Phenotype (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes (MeSH)</term><term>Communication interdisciplinaire (MeSH)</term><term>Comportement coopératif (MeSH)</term><term>Dysplasies osseuses (diagnostic)</term><term>Dysplasies osseuses (génétique)</term><term>Dysplasies osseuses (thérapie)</term><term>Enfant (MeSH)</term><term>Enfant d'âge préscolaire (MeSH)</term><term>Gènes récessifs (génétique)</term><term>Humains (MeSH)</term><term>Hypophosphatasie (diagnostic)</term><term>Hypophosphatasie (génétique)</term><term>Hypophosphatasie (thérapie)</term><term>Isoenzymes (déficit)</term><term>Isoenzymes (génétique)</term><term>Nourrisson (MeSH)</term><term>Phosphatase alcaline (déficit)</term><term>Phosphatase alcaline (génétique)</term><term>Phénotype (MeSH)</term><term>Équipe soignante (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Alkaline Phosphatase</term><term>Isoenzymes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Alkaline Phosphatase</term><term>Isoenzymes</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Bone Diseases, Developmental</term><term>Hypophosphatasia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dysplasies osseuses</term><term>Hypophosphatasie</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Isoenzymes</term><term>Phosphatase alcaline</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Bone Diseases, Developmental</term><term>Genes, Recessive</term><term>Hypophosphatasia</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dysplasies osseuses</term><term>Gènes récessifs</term><term>Hypophosphatasie</term><term>Isoenzymes</term><term>Phosphatase alcaline</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Bone Diseases, Developmental</term><term>Hypophosphatasia</term></keywords><keywords scheme="MESH" qualifier="thérapie" xml:lang="fr"><term>Dysplasies osseuses</term><term>Hypophosphatasie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Cooperative Behavior</term><term>Humans</term><term>Infant</term><term>Interdisciplinary Communication</term><term>Patient Care Team</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Communication interdisciplinaire</term><term>Comportement coopératif</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Nourrisson</term><term>Phénotype</term><term>Équipe soignante</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hypophosphatasia (HP) is an inborn error of bone metabolism transmitted predominantly as an autosomal-recessive trait. It is characterized by a reduced activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSAP) and elevated concentrations of its substrates, including pyrophosphates. Clinical symptoms include defective bone mineralisation with bone deformities, fractures and as recently defined chronic non-bacterial osteomyelitis. Renal damage due to calcification, craniosynostosis and dental abnormalities with premature loss of dentition are further symptoms, which have been described as characteristic in the ESPED inquiry of 2004. Knowledge about the mechanisms underlying cell activation leading to inflammation and tissue destruction is still limited in HP. Recent investigations have provided evidence that calcium pyrophosphate crystals are essentially involved in activating inflammatory signal transduction pathways via different receptors of the innate immune system. Laboratory assays, genetic counselling and testing, and radiologic imaging can confirm the diagnosis. Because symptoms are highly variable in their clinical expression, patients should be followed by a HP-experienced multidisciplinary team (paediatrician, radiologist, orthopedist, neurosurgeon, dentist). At the moment symptomatic support and treatment is most important because a causative therapy, e. g. enzyme replacement therapy, is not yet available.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19629901</PMID><DateCompleted><Year>2009</Year><Month>11</Month><Day>02</Day></DateCompleted><DateRevised><Year>2009</Year><Month>07</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1439-3824</ISSN><JournalIssue CitedMedium="Internet"><Volume>221</Volume><Issue>4</Issue><PubDate><MedlineDate>2009 Jul-Aug</MedlineDate></PubDate></JournalIssue><Title>Klinische Padiatrie</Title><ISOAbbreviation>Klin Padiatr</ISOAbbreviation></Journal><ArticleTitle>[Hypophosphatasia].</ArticleTitle><Pagination><MedlinePgn>219-26</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1055/s-0029-1220718</ELocationID><Abstract><AbstractText>Hypophosphatasia (HP) is an inborn error of bone metabolism transmitted predominantly as an autosomal-recessive trait. It is characterized by a reduced activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSAP) and elevated concentrations of its substrates, including pyrophosphates. Clinical symptoms include defective bone mineralisation with bone deformities, fractures and as recently defined chronic non-bacterial osteomyelitis. Renal damage due to calcification, craniosynostosis and dental abnormalities with premature loss of dentition are further symptoms, which have been described as characteristic in the ESPED inquiry of 2004. Knowledge about the mechanisms underlying cell activation leading to inflammation and tissue destruction is still limited in HP. Recent investigations have provided evidence that calcium pyrophosphate crystals are essentially involved in activating inflammatory signal transduction pathways via different receptors of the innate immune system. Laboratory assays, genetic counselling and testing, and radiologic imaging can confirm the diagnosis. Because symptoms are highly variable in their clinical expression, patients should be followed by a HP-experienced multidisciplinary team (paediatrician, radiologist, orthopedist, neurosurgeon, dentist). At the moment symptomatic support and treatment is most important because a causative therapy, e. g. enzyme replacement therapy, is not yet available.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Beck</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Bereiche Immunologie, Infektiologie, Hämostasiologie, Rheumatologie, Osteologie und Gastroenterologie, Kinderklinik und Poliklinik des Universitätsklinikums, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morbach</LastName><ForeName>H</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Stenzel</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Schneider</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Collmann</LastName><ForeName>H</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Girschick</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Girschick</LastName><ForeName>H J</ForeName><Initials>HJ</Initials></Author></AuthorList><Language>ger</Language><PublicationTypeList><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><VernacularTitle>Hypophosphatasie.</VernacularTitle><ArticleDate DateType="Electronic"><Year>2009</Year><Month>07</Month><Day>23</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Klin Padiatr</MedlineTA><NlmUniqueID>0326144</NlmUniqueID><ISSNLinking>0300-8630</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007527">Isoenzymes</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.3.1</RegistryNumber><NameOfSubstance UI="D000469">Alkaline Phosphatase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000469" MajorTopicYN="N">Alkaline Phosphatase</DescriptorName><QualifierName UI="Q000172" MajorTopicYN="N">deficiency</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001848" MajorTopicYN="N">Bone Diseases, Developmental</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002869" MajorTopicYN="N">Chromosome Aberrations</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003299" MajorTopicYN="N">Cooperative Behavior</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007014" MajorTopicYN="N">Hypophosphatasia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D033183" MajorTopicYN="N">Interdisciplinary Communication</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007527" MajorTopicYN="N">Isoenzymes</DescriptorName><QualifierName UI="Q000172" MajorTopicYN="N">deficiency</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010348" MajorTopicYN="N">Patient Care Team</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading></MeshHeadingList><NumberOfReferences>52</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>7</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>7</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>11</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19629901</ArticleId><ArticleId IdType="doi">10.1055/s-0029-1220718</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Bavière</li><li>District de Basse-Franconie</li></region><settlement><li>Wurtzbourg</li></settlement></list><tree><noCountry><name sortKey="Collmann, H" sort="Collmann, H" uniqKey="Collmann H" first="H" last="Collmann">H. Collmann</name><name sortKey="Girschick, G" sort="Girschick, G" uniqKey="Girschick G" first="G" last="Girschick">G. Girschick</name><name sortKey="Girschick, H J" sort="Girschick, H J" uniqKey="Girschick H" first="H J" last="Girschick">H J Girschick</name><name sortKey="Morbach, H" sort="Morbach, H" uniqKey="Morbach H" first="H" last="Morbach">H. Morbach</name><name sortKey="Schneider, P" sort="Schneider, P" uniqKey="Schneider P" first="P" last="Schneider">P. Schneider</name><name sortKey="Stenzel, M" sort="Stenzel, M" uniqKey="Stenzel M" first="M" last="Stenzel">M. Stenzel</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Beck, C" sort="Beck, C" uniqKey="Beck C" first="C" last="Beck">C. Beck</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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