Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: Effects of ketoconazole therapy

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 3, 2012, Pages

  Tebben, Peter J ^a   Milliner, Dawn S ^b   Horst, Ronald L ^d   Harris, Peter C ^b,c   Singh, Ravinder J ^b   Wu, Yanhong ^b   Foreman, John W ^e   Chelminski, Paul R ^f   Kumar, Rajiv ^b,c  

^a Mercy Healthcare   (United States)

^b MAYO CLINIC ROCHESTER   (United States)

^c MAYO GRADUATE SCHOOL   (United States)

^d Heartland Assays LLC   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

24,25 DIHYDROXYVITAMIN D; ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; COLLAGEN TYPE 1; CYTOCHROME P450; CYTOCHROME P450 CYP24A1; KETOCONAZOLE; PARATHYROID HORMONE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DENSITY; BONE DISEASE; CALCIUM URINE LEVEL; CASE REPORT; CHEMICAL ANALYSIS; CYP24A1 GENE; DIET RESTRICTION; DISEASE ASSOCIATION; DISEASE TRANSMISSION; FAMILY HISTORY; FAMILY STUDY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; HORMONE BLOOD LEVEL; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; LUMBAR SPINE; MALE; NEPHROLITHIASIS; PHENOTYPE; PRIORITY JOURNAL; THERAPY EFFECT; TREATMENT DURATION; TREATMENT RESPONSE; VITAMIN BLOOD LEVEL;

14-ALPHA DEMETHYLASE INHIBITORS; ADULT; CALCITRIOL; GENOTYPE; HUMANS; HYPERCALCEMIA; HYPERCALCIURIA; KETOCONAZOLE; MALE; MUTATION; STEROID HYDROXYLASES; SYNDROME; TREATMENT OUTCOME;

EID: 84863229578     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-1935     Document Type: Article

References (20)

1. Holick MF, Schnoes HK, DeLuca HF 1971 Identification of 1,25-dihydroxycholecalciferol, a form of vitamin D3 metabolically active in the intestine. Proc Natl Acad Sci USA 68:803-804
2. Fraser DR, Kodicek E 1970 Unique biosynthesis by kidney of a biological active vitamin D metabolite. Nature 228:764-766
3. Tanaka Y, Wichmann JK, Paaren HE, Schnoes HK, DeLuca HF 1980 Role of kidney tissue in the production of 25-hydroxyvitamin D3-26,23-lactone and 1α,25-dihydroxyvitamin D3-26,23-lactone. Proc Natl Acad Sci USA 77:6411-6414 (Pubitemid 11219149)
4. Glorieux FH, St. Arnaud R 1998 Molecular cloning of (25-OH D)-1α-hydroxylase: an approach to the understanding of vitamin D pseudo-deficiency. Recent Prog Horm Res 53:341-349; discussion 350
5. St-Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH 1997 The 25-hydroxyvitamin D 1-α-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res 12:1552-1559 (Pubitemid 27422355)
6. St-Arnaud R, Dardenne O, Prud'homme J, Hacking SA, Glorieux FH 2003 Conventional and tissue-specific inactivation of the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1). J Cell Biochem 88: 245-251 (Pubitemid 36119894)
7. Kumar R, Schnoes HK, DeLuca HF 1978 Rat intestinal 25-hydroxyvitamin D3- and 1α,25-dihydroxyvitamin D3-24-hydroxylase. J Biol Chem 253:3804-3809 (Pubitemid 8361582)
8. Tanaka Y, Castillo L, DeLuca HF 1977 The 24-hydroxylation of 1,25-dihydroxyvitamin D3. J Biol Chem 252:1421-1424
9. Chen KS, DeLuca HF 1995 Cloning of the human 1α,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. Biochim Biophys Acta 1263: 1-9
10. Boyle IT, Gray RW, DeLuca HF 1971 Regulation by calcium of in vivo synthesis of 1,25-dihydroxycholecalciferol and 21,25-dihydroxycholecalciferol. Proc Natl Acad Sci USA 68:2131-2134
11. Omdahl JL, Gray RW, Boyle IT, Knutson J, DeLuca HF 1972 Regulation of metabolism of 25-hydroxycholecalciferol by kidney tissue in vitro by dietary calcium. Nat New Biol 237:63-64
12. Kumar R 1984 Metabolism of 1,25-dihydroxyvitamin D3. Physiol Rev 64:478-504
13. Condamine L, Menaa C, Vrtovsnik F, Vrtovsnik F, Friedlander G, Garabédian M 1994 Local action of phosphate depletion and insulin-like growth factor 1 on in vitro production of 1,25-dihydroxyvitamin D by cultured mammalian kidney cells. J Clin Invest 94:1673-1679 (Pubitemid 24309893)
14. Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T 2004 FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 19:429-435 (Pubitemid 38787398)
15. St. Arnaud R, Arabian A, Travers R, Barletta F, Raval-Pandya M, Chapin K, Depovere J, Mathieu C, Christakos S, Demay MB, Glorieux FH 2000 Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D. Endocrinology 141:2658-2666 (Pubitemid 32269087)
16. Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 365:410-421
17. Singh RJ, Taylor RL, Reddy GS, Grebe SK 2006 C-3 epimers can account for a significant proportion of total circulating 25-hydroxyvitamin D in infants, complicating accurate measurement and interpretation of vitamin D status. J Clin Endocrinol Metab 91: 3055-3061 (Pubitemid 44271755)
18. Horst RL, Littledike ET, Gray RW, Napoli JL 1981 Impaired 24,25-dihydroxyvitamin D production in anephric human and pig. J Clin Invest 67:274-280 (Pubitemid 11163182)
19. Horst RL, Shepard RM, Jorgensen NA, DeLuca HF 1979 The determination of 24,25-dihydroxyvitamin D and 25,26-dihydroxyvitamin D in plasma from normal and nephrectomized man. J Lab Clin Med 93:277-285 (Pubitemid 9099254)
20. Glass AR, Cerletty JM, Elliott W, Lemann Jr J, Gray RW, Eil C 1990 Ketoconazole reduces elevated serum levels of 1,25-dihydroxyvitamin D in hypercalcemic sarcoidosis. J Endocrinol Invest 13:407-413 (Pubitemid 20186187)