[Hypophosphatasia in adults. Apropos of 2 cases].
Identifieur interne : 005726 ( PubMed/Curation ); précédent : 005725; suivant : 005727[Hypophosphatasia in adults. Apropos of 2 cases].
Auteurs : D. Wendling ; M. Cassou ; M. GuidetSource :
- Revue du rhumatisme et des maladies osteo-articulaires [ 0035-2659 ] ; 1985.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Bouche édentée (étiologie), Chondrocalcinose (imagerie diagnostique), Femelle, Fractures spontanées (étiologie), Humains, Hypophosphatasie (), Hypophosphatasie (diagnostic), Hypophosphatasie (génétique), Hypophosphatasie (imagerie diagnostique), Os et tissu osseux (anatomopathologie), Os et tissu osseux (imagerie diagnostique), Ostéomalacie (étiologie), Phosphatase alcaline (déficit), Radiographie, Éthanolamines (urine).
- MESH :
- anatomopathologie : Os et tissu osseux.
- diagnostic : Hypophosphatasie.
- déficit : Phosphatase alcaline.
- génétique : Hypophosphatasie.
- imagerie diagnostique : Chondrocalcinose, Hypophosphatasie, Os et tissu osseux.
- étiologie : Bouche édentée, Fractures spontanées, Ostéomalacie, Éthanolamines.
- Adulte, Adulte d'âge moyen, Femelle, Humains, Hypophosphatasie, Radiographie.
English descriptors
- KwdEn :
- Adult, Alkaline Phosphatase (deficiency), Bone and Bones (diagnostic imaging), Bone and Bones (pathology), Chondrocalcinosis (diagnostic imaging), Ethanolamines (urine), Female, Fractures, Spontaneous (etiology), Humans, Hypophosphatasia (diagnosis), Hypophosphatasia (diagnostic imaging), Hypophosphatasia (genetics), Hypophosphatasia (therapy), Middle Aged, Mouth, Edentulous (etiology), Osteomalacia (etiology), Radiography.
- MESH :
- chemical , deficiency : Alkaline Phosphatase.
- diagnosis : Hypophosphatasia.
- diagnostic imaging : Bone and Bones, Chondrocalcinosis, Hypophosphatasia.
- etiology : Fractures, Spontaneous, Mouth, Edentulous, Osteomalacia.
- genetics : Hypophosphatasia.
- pathology : Bone and Bones.
- therapy : Hypophosphatasia.
- chemical , urine : Ethanolamines.
- Adult, Female, Humans, Middle Aged, Radiography.
Abstract
Two very dissimilar cases of hypophosphatemia in the adult patient are described by the authors. The first case was symptomatic since childhood, with typical clinical and radiologic findings (fissures, diaphyseal bone spurs, bony deformities), whereas the second case was minimally symptomatic (loss of teeth and back pain). Articular chondrocalcinosis was observed in both cases, as was a decrease in alkaline phosphatase and the increased urinary excretion of phosphoethanolamine. Histological examination demonstrated an increase in osteoid. Review of the literature revealed 40 cases of this inborn error of metabolism seen in adulthood, enabling a detailed description of the characteristics of this polymorphic condition.
PubMed: 3992153
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The first case was symptomatic since childhood, with typical clinical and radiologic findings (fissures, diaphyseal bone spurs, bony deformities), whereas the second case was minimally symptomatic (loss of teeth and back pain). Articular chondrocalcinosis was observed in both cases, as was a decrease in alkaline phosphatase and the increased urinary excretion of phosphoethanolamine. Histological examination demonstrated an increase in osteoid. Review of the literature revealed 40 cases of this inborn error of metabolism seen in adulthood, enabling a detailed description of the characteristics of this polymorphic condition.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">3992153</PMID><DateCompleted><Year>1985</Year><Month>05</Month><Day>28</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>23</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0035-2659</ISSN><JournalIssue CitedMedium="Print"><Volume>52</Volume><Issue>1</Issue><PubDate><Year>1985</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Revue du rhumatisme et des maladies osteo-articulaires</Title><ISOAbbreviation>Rev Rhum Mal Osteoartic</ISOAbbreviation></Journal><ArticleTitle>[Hypophosphatasia in adults. Apropos of 2 cases].</ArticleTitle><Pagination><MedlinePgn>43-50</MedlinePgn></Pagination><Abstract><AbstractText>Two very dissimilar cases of hypophosphatemia in the adult patient are described by the authors. The first case was symptomatic since childhood, with typical clinical and radiologic findings (fissures, diaphyseal bone spurs, bony deformities), whereas the second case was minimally symptomatic (loss of teeth and back pain). Articular chondrocalcinosis was observed in both cases, as was a decrease in alkaline phosphatase and the increased urinary excretion of phosphoethanolamine. Histological examination demonstrated an increase in osteoid. Review of the literature revealed 40 cases of this inborn error of metabolism seen in adulthood, enabling a detailed description of the characteristics of this polymorphic condition.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wendling</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Cassou</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Guidet</LastName><ForeName>M</ForeName><Initials>M</Initials></Author></AuthorList><Language>fre</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><VernacularTitle>L'hypophosphatasie à l'âge adulte. 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