Imaging patterns in pediatric hypophosphatasia.

Alkaline Phosphatase / genetics Child Enzyme Replacement Therapy / methods Humans Hypophosphatasia / diagnostic imaging Magnetic Resonance Imaging Mutation Whole Body Imaging
Alkaline phosphatase Children  Computed tomography Hypophosphatasia Radiography Whole-body magnetic resonance imaging

Journal

Pediatric radiology
ISSN: 1432-1998
Titre abrégé: Pediatr Radiol
Pays: Germany
ID NLM: 0365332

Informations de publication

Date de publication:
05 2022
Historique:
received: 23 12 2020
accepted: 20 10 2021
revised: 23 08 2021
pubmed: 3 12 2021
medline: 23 4 2022
entrez: 2 12 2021
Statut: ppublish

Résumé

Hypophosphatasia is a rare genetic disorder of calcium and phosphate metabolism due to ALPL gene mutations, which leads to abnormal mineralization of the bones and teeth. Hypophosphatasia is characterized by low serum alkaline phosphatase activity and a number of clinical signs, including failure to thrive, bone pain and dental issues. The diagnosis is suspected based on clinical, laboratory and imaging findings and confirmed by genetic testing. Diagnosis in children is often delayed due to a lack of disease awareness, despite specific imaging findings that are a cornerstone of the diagnosis. The recent approval of enzyme replacement therapy (bone-targeted recombinant tissue nonspecific alkaline phosphatase) has given imaging an important role in monitoring treatment efficacy. The aim of this pictorial essay is to review the imaging features of hypophosphatasia at diagnosis and during follow-up, including whole-body magnetic resonance imaging patterns.

Identifiants

DOI: 10.1007/s00247-021-05232-3 PMID: 34854966
pubmed: 34854966
doi: 10.1007/s00247-021-05232-3
pii: 10.1007/s00247-021-05232-3
doi:

Substances chimiques

Alkaline Phosphatase EC 3.1.3.1

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

998-1006

Informations de copyright

© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Références

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Auteurs

Inès Mannes (I)

Faculty of Medicine, Paris-Saclay University, 63 rue Gabriel Péri, 94270, Le Kremlin Bicêtre, France. ines.mannes@aphp.fr.
Paediatric Radiology Department, AP-HP, Bicêtre Hospital, 78 rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France. ines.mannes@aphp.fr.

Anya Rothenbuhler (A)

AP-HP, Paediatric Endocrinology and Diabetology Departement, Bicêtre Hospital, Le Kremlin-Bicêtre, France.
AP-HP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise for Rare Disorders, filière OSCAR, EndoRare and BOND ERN, Bicêtre Hospital, Le Kremlin-Bicêtre, France.

Valérie Merzoug (V)

Paediatric Radiology Department, AP-HP, Bicêtre Hospital, 78 rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.

Federico Di Rocco (F)

Department of Pediatric Neurosurgery, Lyon University, Lyon Civil Hospices, Woman-Mother-Child Hospital, French Referral Center for Craniosynostosis, Lyon, France.
INSERM 1033, LYOS, Bone Disorders Prevention, 69008, Lyon, France.

Agnès Linglart (A)

Faculty of Medicine, Paris-Saclay University, 63 rue Gabriel Péri, 94270, Le Kremlin Bicêtre, France.
AP-HP, Paediatric Endocrinology and Diabetology Departement, Bicêtre Hospital, Le Kremlin-Bicêtre, France.
AP-HP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise for Rare Disorders, filière OSCAR, EndoRare and BOND ERN, Bicêtre Hospital, Le Kremlin-Bicêtre, France.

Catherine Adamsbaum (C)

Faculty of Medicine, Paris-Saclay University, 63 rue Gabriel Péri, 94270, Le Kremlin Bicêtre, France.
Paediatric Radiology Department, AP-HP, Bicêtre Hospital, 78 rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.
ORCID: 0000-0003-3337-2639

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Esterases › Phosphoric monoester hydrolases › Phosphatase alcaline › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Thérapeutique › Traitement médicamenteux › Thérapie enzymatique › Thérapie enzymatique substitutive › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme des métaux › Hypophosphatasie › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Imaging patterns in pediatric hypophosphatasia.
questionsmedicales.fr › Techniques d'investigation › Imagerie du corps entier › Imaging patterns in pediatric hypophosphatasia.