24-Hydroxylase Deficiency Due to
24-hydroxylase
CYP24A1
Idiopathic infantile hypercalcemia
genetic
hypercalcemia
vitamin D
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Sep 2021
01 Sep 2021
Historique:
received:
07
03
2021
entrez:
2
8
2021
pubmed:
3
8
2021
medline:
3
8
2021
Statut:
epublish
Résumé
CYP24A1 encodes 24-hydroxylase, which converts 25(OH)D3 and 1,25(OH) To identify features that differentiate 24HD from other vitamin D-mediated hypercalcemia disorders. Patients seen at the Mayo Clinic (Rochester, MN) from January 1, 2008, to 31 December, 2016, with the following criteria were retrospectively identified: serum calcium ≥9.6 mg/dL, parathyroid hormone <30 pg/mL, and 1,25(OH) We identified 9 patients with 24HD and 28 with other vitamin D-mediated disorders. Patients with 24HD were younger at symptom onset (median 14 vs 63 years; P = .001) and had positive family history (88.9% vs 20.8%; P < .001), nephrocalcinosis (88.9% vs 6.3%; P < .001), lower lumbar spine Z-scores (median -0.50 vs 1.20; P = .01), higher peak serum phosphorus (% of peak reference range, median 107 vs 84; Patients with 24HD had clinical and laboratory findings that differed from other vitamin D-mediated hypercalcemia disorders. 24HD should be suspected in patients with hypercalcemia who present at younger age, have positive family history, and have nephrocalcinosis.
Identifiants
pubmed: 34337279
doi: 10.1210/jendso/bvab119
pii: bvab119
pmc: PMC8317629
doi:
Types de publication
Journal Article
Langues
eng
Pagination
bvab119Informations de copyright
© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.
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