Adult hypophosphatasia manifests in a marathon runner.
Alkaline Phosphatase
/ administration & dosage
Drug Hypersensitivity
/ etiology
Enzyme Replacement Therapy
/ methods
Female
Fractures, Stress
/ diagnostic imaging
Genetic Testing
/ methods
Humans
Hypophosphatasia
/ blood
Immunoglobulin G
/ administration & dosage
Marathon Running
Middle Aged
Mutation
Recombinant Fusion Proteins
/ administration & dosage
Vitamin B 6
/ blood
calcium and bone
sports and exercise medicine
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
09 Sep 2020
09 Sep 2020
Historique:
entrez:
11
9
2020
pubmed:
12
9
2020
medline:
23
2
2021
Statut:
epublish
Résumé
A 49-year-old woman, previously healthy, presented with recurrent fractures provoked by minimal trauma. She had sustained seven fractures over the previous 2 years. While she was an avid runner, her injuries were determined to be out of proportion to the degree of trauma. Initial evaluation, exploring the more common causes such as low bone density and abnormal vitamin D metabolism, was unremarkable. On repeat of the some of the tests, a low alkaline phosphatase (AP) was noted, which raised suspicion for hypophosphatasia (HPP), a rare cause of recurrent fractures. Subsequent workup revealed a low bone-specific AP and elevated vitamin B
Identifiants
pubmed: 32912883
pii: 13/9/e234764
doi: 10.1136/bcr-2020-234764
pmc: PMC7482458
pii:
doi:
Substances chimiques
Immunoglobulin G
0
Recombinant Fusion Proteins
0
Vitamin B 6
8059-24-3
ALPL protein, human
EC 3.1.3.1
Alkaline Phosphatase
EC 3.1.3.1
asfotase alfa
Z633861EIM
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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