Contribution of imaging to the diagnosis and follow up of X-linked hypophosphatemia.

Diagnostic Imaging / methods Familial Hypophosphatemic Rickets / diagnosis Fibroblast Growth Factor-23 Fibroblast Growth Factors / analysis Humans Radiography / methods Rickets / complications
Chiari 1 malformation Enthesopathy Nephrocalcinosis Rickets X-linked hypophosphatemia

Journal

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
ISSN: 1769-664X
Titre abrégé: Arch Pediatr
Pays: France
ID NLM: 9421356

Informations de publication

Date de publication:
Oct 2021
Historique:
pubmed: 30 9 2021
medline: 30 11 2021
entrez: 29 9 2021
Statut: ppublish

Résumé

X-linked hypophosphatemia (XLH) is the most common form of inheritable rickets. The disease is caused principally by PHEX mutations leading to increased concentrations of circulating intact FGF23, hence renal phosphate wasting, hypophosphatemia, and decreased circulating levels of 1,25(OH)

Identifiants

DOI: 10.1016/j.arcped.2021.09.002 PMID: 34583869
pubmed: 34583869
pii: S0929-693X(21)00150-0
doi: 10.1016/j.arcped.2021.09.002
pii:
doi:

Substances chimiques

FGF23 protein, human 0
Fibroblast Growth Factors 62031-54-3
Fibroblast Growth Factor-23 7Q7P4S7RRE

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

594-598

Informations de copyright

Copyright © 2021. Published by Elsevier Masson SAS.

Auteurs

Catherine Adamsbaum (C)

Université de Paris Saclay, AP-HP, Département de Radiologie Pédiatrique, Hôpital Bicêtre Paris Saclay, 78 rue du Général Leclerc, 94275 Le Kremlin-Bicêtre, France. Electronic address: Catherine.adamsbaum@aphp.fr.

Jean-Denis Laredo (JD)

AP-HP, Department of Radiology, Lariboisière Hospital, Paris, France.

Karine Briot (K)

AP-HP, Department of Rheumatology, Cochin Hospital, Paris, France.

Agnès Linglart (A)

Université de Paris Saclay, AP-HP, Centre de Référence des maladies rares du métabolisme du Calcium et du Phosphate, filière OSCAR, service d'endocrinologie et diabète de l'enfant, hôpital Bicêtre Paris Saclay, Le Kremlin Bicêtre, France.

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Classifications MeSH

questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Contribution of imaging to the diagnosis and...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Troubles nutritionnels › Malnutrition › Maladies de carence › Avitaminoses › Carence en vitamine D › Rachitisme › Rachitisme hypophosphatémique › Rachitisme hypophosphatémique familial › Contribution of imaging to the diagnosis and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Peptides › Facteur-23 de croissance des fibroblastes › Contribution of imaging to the diagnosis and...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Facteurs de croissance fibroblastique › Contribution of imaging to the diagnosis and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Contribution of imaging to the diagnosis and...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Radiographie › Contribution of imaging to the diagnosis and...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Troubles nutritionnels › Malnutrition › Maladies de carence › Avitaminoses › Carence en vitamine D › Rachitisme › Contribution of imaging to the diagnosis and...