Serveur d'exploration sur le patient édenté

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[Hypophosphatasia in adults. Apropos of 2 cases].

Identifieur interne : 00C935 ( Main/Exploration ); précédent : 00C934; suivant : 00C936

[Hypophosphatasia in adults. Apropos of 2 cases].

Auteurs : D. Wendling ; M. Cassou ; M. Guidet

Source :

RBID : pubmed:3992153

Descripteurs français

English descriptors

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


Affiliations:


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Le document en format XML

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<term>Adult</term>
<term>Alkaline Phosphatase (deficiency)</term>
<term>Bone and Bones (diagnostic imaging)</term>
<term>Bone and Bones (pathology)</term>
<term>Chondrocalcinosis (diagnostic imaging)</term>
<term>Ethanolamines (urine)</term>
<term>Female</term>
<term>Fractures, Spontaneous (etiology)</term>
<term>Humans</term>
<term>Hypophosphatasia (diagnosis)</term>
<term>Hypophosphatasia (diagnostic imaging)</term>
<term>Hypophosphatasia (genetics)</term>
<term>Hypophosphatasia (therapy)</term>
<term>Middle Aged</term>
<term>Mouth, Edentulous (etiology)</term>
<term>Osteomalacia (etiology)</term>
<term>Radiography</term>
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<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Bouche édentée (étiologie)</term>
<term>Chondrocalcinose (imagerie diagnostique)</term>
<term>Femelle</term>
<term>Fractures spontanées (étiologie)</term>
<term>Humains</term>
<term>Hypophosphatasie ()</term>
<term>Hypophosphatasie (diagnostic)</term>
<term>Hypophosphatasie (génétique)</term>
<term>Hypophosphatasie (imagerie diagnostique)</term>
<term>Os et tissu osseux (anatomopathologie)</term>
<term>Os et tissu osseux (imagerie diagnostique)</term>
<term>Ostéomalacie (étiologie)</term>
<term>Phosphatase alcaline (déficit)</term>
<term>Radiographie</term>
<term>Éthanolamines (urine)</term>
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<term>Alkaline Phosphatase</term>
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<term>Os et tissu osseux</term>
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<term>Hypophosphatasia</term>
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<term>Hypophosphatasie</term>
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<term>Bone and Bones</term>
<term>Chondrocalcinosis</term>
<term>Hypophosphatasia</term>
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<term>Phosphatase alcaline</term>
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<term>Fractures, Spontaneous</term>
<term>Mouth, Edentulous</term>
<term>Osteomalacia</term>
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<term>Hypophosphatasia</term>
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<term>Chondrocalcinose</term>
<term>Hypophosphatasie</term>
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<term>Fractures spontanées</term>
<term>Ostéomalacie</term>
<term>Éthanolamines</term>
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<term>Humans</term>
<term>Middle Aged</term>
<term>Radiography</term>
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<div type="abstract" xml:lang="en">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.</div>
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