Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.
1,24,25-TRIHYDROXYVITAMIN D3
23,25,26-TRIHYDROXYVITAMIN D3
24,25-DIHYDROXYVITAMIN D
25-HYDROXYVITAMIN D3-26,23-LACTONE
CELL/TISSUE SIGNALING-ENDOCRINE PATHWAYS
CYP24A1
DISEASES AND DISORDERS OF/RELATED TO BONE
HYPERCALCEMIA
LC-MS/MS
NUTRITION
PTH/Vit D/FGF23
SCREENING
Journal
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
ISSN: 1523-4681
Titre abrégé: J Bone Miner Res
Pays: United States
ID NLM: 8610640
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
26
03
2021
received:
18
08
2020
accepted:
08
04
2021
pubmed:
16
4
2021
medline:
10
8
2021
entrez:
15
4
2021
Statut:
ppublish
Résumé
Genetic causes of vitamin D-related hypercalcemia are known to involve mutation of 25-hydroxyvitamin D-24-hydroxylase CYP24A1 or the sodium phosphate co-transporter SLC34A1, which result in excessive 1,25-(OH)
Substances chimiques
FGF23 protein, human
0
Vitamin D
1406-16-2
Fibroblast Growth Factor-23
7Q7P4S7RRE
Vitamin D3 24-Hydroxylase
EC 1.14.15.16
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1340-1350Subventions
Organisme : CIHR
ID : ERA-132931
Pays : Canada
Informations de copyright
© 2021 American Society for Bone and Mineral Research (ASBMR).
Références
Jones G, Prosser DE, Kaufmann M. Cytochrome P450 mediated metabolism of vitamin D. J Lipid Res. 2014;55:13-31.
Jones G, Kottler ML, Schlingmann KP. Genetic diseases of vitamin D metabolizing enzymes. Endocrinol Metab Clin North Am. 2017;46:1905-1117.
Tebben PJ, Singh RJ, Kumar R. Vitamin D-mediated Hypercalcemia: mechanisms, diagnosis, and treatment. Endocr Rev. 2016;37:521-547.
Schlingmann KP, Kaufmann M, Weber S. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011;365:410-421.
Schlingmann KP, Ruminska J, Kaufmann M, et al. Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia. J Am Soc Nephrol. 2016;27:604-614.
Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962;26:1235-1240.
Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-1318.
Kaufmann M, Gallagher JC, Peacock M, et al. Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD. J Clin Endocrinol Metab. 2014;99:2567-2574.
Kaufmann M, Morse N, Molloy BJ, et al. Improved screening test for idiopathic infantile hypercalcemia confirms residual levels of serum 24,25-(OH)2 D3 in affected patients. J Bone Miner Res. 2017;32:1589-1596.
Graeff-Armas LA, Kaufmann M, Lyden E, Jones G. Serum 24,25-dihydroxyvitamin D3 response to native vitamin D2 and D3 supplementation in patients with chronic kidney disease on hemodialysis. Clin Nutr. 2018;37:1041-1045.
Kaufmann M, Lee SM, Pike JW, Jones G. A high-calcium and phosphate rescue diet and VDR-expressing transgenes normalize serum vitamin D metabolite profiles and renal Cyp27b1 and Cyp24a1 expression in VDR null mice. Endocrinology. 2015;156:4388-4397.
Molin A, Baudoin R, Kaufmann M, et al. CYP24A1 mutations in a cohort of hypercalcemic patients: evidence for a recessive trait. J Clin Endocrinol Metab. 2015;100:E1343-E1352.
Gallagher JC, Peacock M, Yalamanchili V, Smith LM. Effects of vitamin D supplementation in older African American women. J Clin Endocrinol Metab. 2013;98:1137-1146.
Gallagher JC, Sai A, Templin T, Smith L. Dose response to vitamin D supplementation in postmenopausal women: a randomized trial. Ann Intern Med. 2012;156:425-437.
Gallagher JC, Jindal PS, Smith LM. Vitamin D does not increase calcium absorption in young women: a randomized clinical trial. J Bone Miner Res. 2014;29:1081-1087.
Meyer MB, Benkusky NA, Kaufmann M, et al. A kidney-specific genetic control module in mice governs endocrine regulation of the cytochrome P450 gene Cyp27b1 essential for vitamin D3 activation. J Biol Chem. 2017;292:17541-17558.
Laha TJ, Strathmann FG, Wang Z, de Boer IH, Thummel KE, Hoofnagle AN. Characterizing antibody cross-reactivity for immunoaffinity purification of analytes prior to multiplexed liquid chromatography-tandem mass spectrometry. Clin Chem. 2012;58:1711-1716.
Nagata A, Akagi Y, Masoud SS, et al. Stereoselective synthesis of four calcitriol lactone diasteriomers at C23 and C25. J Org Chem. 2019;84:7630-7641.
Jones G. Pharmacokinetics of vitamin D toxicity. Am J Clin Nutr. 2008;88:582S-586S.
Ishizuka S, Ishimoto S, Norman AW. Isolation, identification, and biological activity of 23,25,26-trihydroxyvitamin D3, an in vitro and in vivo metabolite of vitamin D3. Arch Biochem Biophys. 1982;217:264-272.
Prosser DE, Kaufmann M, O'Leary B, Byford V, Jones G. Single A326G mutation converts human CYP24A1 from 25-OH-D3-24-hydroxylase into -23-hydroxylase, generating 1alpha,25-(OH)2D3-26,23-lactone. Proc Natl Acad Sci U S A. 2007;104:12673-12678.
Kaufmann M, Martineau C, Arabian A, Traynor M, St-Arnaud R, Jones G. Calcioic acid: In vivo detection and quantification of the terminal C24-oxidation product of 25-hydroxyvitamin D3 and related intermediates in serum of mice treated with 24,25-dihydroxyvitamin D3. J Steroid Biochem Mol Biol. 2019;188:23-28.
Makin G, Lohnes D, Byford V, Ray R, Jones G. Target cell metabolism of 1,25-dihydroxyvitamin D3 to calcitroic acid. Evidence for a pathway in kidney and bone involving 24-oxidation. Biochem J. 1989;262:173-180.
Horst RL. 25-OHD3-26,23-lactone: A metabolite of vitamin D3 that is 5 times more potent than 25-OHD3 in the rat plasma competitive protein binding radioassay. Biochem Biophys Res Commun. 1979;89:286-293.
Meyer MB, Min Lee S, Carlson AH, et al. A chromatin-based mechanism controls differential regulation of the cytochrome p450 gene Cyp24a1 in renal and non renal tissues. J Biol Chem. 2019;294:14467-14481.
Tieu EW, Tang EKY, Tuckey RC. Kinetic analysis of human CYP24A1 metabolism of vitamin D via the C24-oxidation pathway. FEBS J. 2014;281:3280-3296.
Lameris ALL, Geesing CLM, Hoenderop JGJ, Schreuder MF. Importance of dietary calcium and vitamin D in the treatment of hypercalcaemia in Williams-Beuren syndrome. J Pediatr Endocrinol Metab. 2014;27:757-761.
Jones G, Schlingmann KP. Hypercalcemic states associated with abnormalities of vitamin D metabolism. In Giustina A, Bilezikian JP, eds. Frontiers of Hormone Research. Basel, Switzerland: Karger; 2018 pp 80-113.
Barnett C, Krebs JE. WSTF does it all: a multifunctional protein in transcription, repair, and replication. Biochem Cell Biol. 2011;89:12-23.
Yoshimura K, Kitagawa H, Fujiki R, et al. Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). Proc Natl Acad Sci U S A. 2009;106:9280-9285.
Yoshimura K, Kitagawa H, Fujiki R, et al. The chromatin-remodeling complex WINAC targets a nuclear receptor to promotors and is impaired in Williams syndrome. Cell. 2003;113:905-917.
Bang UC, Novovic S, Andersen AM, Fenger M, Hansen MB, Beck Jensen JE. Variations in serum 25-hydroxyvitamin D during acute pancreatitis: an exploratory longitudinal study. Endocr Res. 2011;36:135-141.
Huh JH, Kim JW, Lee KJ. Vitamin D deficiency predicts severe acute pancreatitis. United European Gastroenterol J. 2019;7:90-95.
Han Z, Margulies S, Kurian D, Elliott M. Vitamin D deficiency in patients with pancreatitis: is vitamin D replacement required? Pancreat Disord Ther. 2016;6:1-6.
Hummel D, Aggarwal A, Borka K, Kallay E, Horvath HC. The vitamin D system is dysregulated in pancreatic disease. J Steroid Biochem Mol Biol. 2014;144:402-409.
Muscogiuri G, Altieri B, Penna-Martinez M, Badenhoop K. Focus on vitamin D and the adrenal gland. Horm Metab Res. 2015;47:239-246.
Lee JM, Pou K, Sadow PM, et al. Vitamin D-mediated hypercalcemia and Cushing syndrome as manifestations of malignant pleural mesothelioma. Endocr Pract. 2008;14:1011-1016.
Hawkes CP, Li D, Hakonarson H, Meyers KE, Thummel KE, Levine MA. CYP3A4 induction by rifampin: an alternative pathway for vitamin D inactivation in patients with CYP24A1 mutations. J Clin Endocrinol Metab. 2017;102:1440-1446.