Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report.
endocrinopathy
enzyme replacement therapy
evidence-based medicine
multidisciplinary care
pediatric orthopedics
pediatric trauma
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
accepted:
27
05
2022
entrez:
30
6
2022
pubmed:
1
7
2022
medline:
1
7
2022
Statut:
epublish
Résumé
Hypophosphatasia (HPP) is a rare genetic condition that can manifest from the prenatal period to adulthood. Clinical presentation is characterized by six major forms. HPP can be complex and debilitating. A two-year-old male with a past medical history of HPP presented to our emergency room with a non-displaced supracondylar fracture after minor trauma. Non-accidental trauma was considered in addition to inadequate medical control of his HPP. He was referred to our multidisciplinary clinic and asfotase alfa was increased to an appropriate dose. A multidisciplinary approach is the standard of care for the management of children with HPP, allowing for routine evaluation by tertiary specialists. This includes medication dosing surveillance with serum studies and imaging. Enzyme replacement therapy, appropriately dosed by considering weight and laboratory values, may reduce orthopedic complications. A multidisciplinary team's surveillance of patients with HPP ensures proper medication management, decreases the likelihood of bony injury and encourages continued patient follow-up.
Identifiants
pubmed: 35769684
doi: 10.7759/cureus.25426
pmc: PMC9235917
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e25426Informations de copyright
Copyright © 2022, Qubain et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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