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Volumn 20, Issue 5, 2014, Pages

A case of "late-onset" idiopathic infantile hypercalcemia secondary to mutations in the CYP24A1 gene

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; CALCIUM; HYDROCHLOROTHIAZIDE; NUCLEOTIDE; PARATHYROID HORMONE; VITAMIN D;

EID: 84900433980     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP13479.CR     Document Type: Article
Times cited : (27)

References (20)
  • 2
    • 8544284075 scopus 로고    scopus 로고
    • Enzymes involved in the activationand inactivation of vitamin D
    • Prosser DE, Jones G. Enzymes involved in the activationand inactivation of vitamin D. Trends Biochem Sci. 2004;29:664-673.
    • (2004) Trends Biochem Sci. , vol.29 , pp. 664-673
    • Prosser, D.E.1    Jones, G.2
  • 3
    • 79961102329 scopus 로고    scopus 로고
    • Mutations in CYP24A1 and idiopathic infantile hypercalcemia
    • Schlingmann KP, Kaufmann M, Weber S, et al.Mutations in CYP24A1 and idiopathic infantile hypercalcemia.N Engl J Med. 2011;365:410-421.
    • (2011) N Engl J Med. , vol.365 , pp. 410-421
    • Schlingmann, K.P.1    Kaufmann, M.2    Weber, S.3
  • 4
    • 84861577327 scopus 로고    scopus 로고
    • 25-HydroxyvitaminD-24-hydroxylase (CYP24A1): Its important role in thedegradation of vitamin D
    • Jones G, Prosser DE, Kaufmann M. 25-HydroxyvitaminD-24-hydroxylase (CYP24A1): its important role in thedegradation of vitamin D. Arch Biochem Biophys. 2012;523:9-18.
    • (2012) Arch Biochem Biophys. , vol.523 , pp. 9-18
    • Jones, G.1    Prosser, D.E.2    Kaufmann, M.3
  • 5
    • 49749212730 scopus 로고
    • Idiopathic hypercalcaemia ofinfants
    • Lightwood R, Stapleton T. Idiopathic hypercalcaemia ofinfants. Lancet. 1953;265:255-256.
    • (1953) Lancet , vol.265 , pp. 255-256
    • Lightwood, R.1    Stapleton, T.2
  • 6
    • 84876052295 scopus 로고    scopus 로고
    • 1, 25-(OH)2D-24 Hydroxylase (CYP24A1) deficiency as a causeof nephrolithiasis
    • Nesterova G, Malicdan MC, Yasuda K, et al. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) deficiency as a causeof nephrolithiasis. Clin J Am Soc Nephrol. 2013;8:649-657.
    • (2013) Clin J Am Soc Nephrol , vol.8 , pp. 649-657
    • Nesterova, G.1    Malicdan, M.C.2    Yasuda, K.3
  • 7
    • 0003331543 scopus 로고    scopus 로고
    • Deficientmineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitaminD and not to the absence of 24,25-dihydroxyvitaminD
    • St-Arnaud R, Arabian A, Travers R, et al. Deficientmineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitaminD and not to the absence of 24,25-dihydroxyvitaminD. Endocrinology. 2000;141: 2658-2666.
    • (2000) Endocrinology. , vol.141 , pp. 2658-2666
    • St-Arnaud, R.1    Arabian, A.2    Travers, R.3
  • 8
    • 12344280997 scopus 로고    scopus 로고
    • Altered pharmacokineticsof 1alpha,25-dihydroxyvitamin D3 and25-hydroxyvitamin D3 in the blood and tissues of the25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) nullmouse
    • Masuda S, Byford V, Arabian A, et al. Altered pharmacokineticsof 1alpha,25-dihydroxyvitamin D3 and25-hydroxyvitamin D3 in the blood and tissues of the25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) nullmouse. Endocrinology. 2005;146:825-834.
    • (2005) Endocrinology , vol.146 , pp. 825-834
    • Masuda, S.1    Byford, V.2    Arabian, A.3
  • 9
    • 84856778061 scopus 로고    scopus 로고
    • Genetic defect inCYP24A1, the vitamin D 24-hydroxylase gene, in a patientwith severe infantile hypercalcemia
    • Dauber A, Nguyen TT, Sochett E, et al. Genetic defect inCYP24A1, the vitamin D 24-hydroxylase gene, in a patientwith severe infantile hypercalcemia. J Clin EndocrinolMetab. 2012;97:E268-E274.
    • (2012) J Clin EndocrinolMetab. , vol.97
    • Dauber, A.1    Nguyen, T.T.2    Sochett, E.3
  • 10
    • 0021260566 scopus 로고
    • Idiopathic infantilehypercalcaemia-A continuing enigma
    • Martin N, Snodgrass G, Cohen R. Idiopathic infantilehypercalcaemia-a continuing enigma. Arch Dis Child.1984;59:605613.
    • (1984) Arch Dis Child. , vol.59 , pp. 605613
    • Martin, N.1    Snodgrass, G.2    Cohen, R.3
  • 11
    • 84884619944 scopus 로고    scopus 로고
    • Lightwood syndromerevisited with a novel mutation in CYP24 and vitaminD supplement recommendations
    • Castanet M, Mallet E, Kottler ML. Lightwood syndromerevisited with a novel mutation in CYP24 and vitaminD supplement recommendations. J Pediatr. 2013;163:1208-1210.
    • (2013) J Pediatr. , vol.163 , pp. 1208-1210
    • Castanet, M.1    Mallet, E.2    Kottler, M.L.3
  • 12
    • 0032784476 scopus 로고    scopus 로고
    • Hypercalcemia of the newborn: Etiology,evaluation, and management
    • Rodd C, Goodyer P. Hypercalcemia of the newborn: etiology,evaluation, and management. Pediatr Nephrol. 1999;13:542-547.
    • (1999) Pediatr Nephrol. , vol.13 , pp. 542-547
    • Rodd, C.1    Goodyer, P.2
  • 13
    • 33748681101 scopus 로고    scopus 로고
    • Longtermfollow-up of patients with idiopathic infantile hypercalcaemia
    • Huang J, Coman D, McTaggart SJ, Burke JR. Longtermfollow-up of patients with idiopathic infantile hypercalcaemia.Pediatr Nephrol. 2006;21:1676-1680.
    • (2006) Pediatr Nephrol. , vol.21 , pp. 1676-1680
    • Huang, J.1    Coman, D.2    McTaggart, S.J.3    Burke, J.R.4
  • 14
    • 84863229578 scopus 로고    scopus 로고
    • Hypercalcemia,hypercalciuria, and elevated calcitriol concentrations withautosomal dominant transmission due to CYP24A1 mutations:effects of ketoconazole therapy
    • Tebben PJ, Milliner DS, Horst RL, et al. Hypercalcemia,hypercalciuria, and elevated calcitriol concentrations withautosomal dominant transmission due to CYP24A1 mutations:effects of ketoconazole therapy. J Clin EndocrinolMetab. 2012;97:E423-E427.
    • (2012) J Clin EndocrinolMetab. , vol.97
    • Tebben, P.J.1    Milliner, D.S.2    Horst, R.L.3
  • 15
    • 80455173535 scopus 로고    scopus 로고
    • CYP24A1Mutations in idiopathic infantile hypercalcemia
    • author reply
    • Streeten E, Zarbalian K, Damcott C. CYP24A1Mutations in idiopathic infantile hypercalcemia. New EnglJ Med. 2011;365:1741-1742; author reply.
    • (2011) New EnglJ Med. , vol.365 , pp. 1741-1742
    • Streeten, E.1    Zarbalian, K.2    Damcott, C.3
  • 16
    • 84880045700 scopus 로고    scopus 로고
    • Loss-of-function mutationsof CYP24A1, the vitamin D 24-hydroxylase gene, causelong-standing hypercalciuric nephrolithiasis and nephrocalcinosis
    • Dinour D, Beckerman P, Ganon L, Tordjman K,Eisenstein Z, Holtzman EJ. Loss-of-function mutationsof CYP24A1, the vitamin D 24-hydroxylase gene, causelong-standing hypercalciuric nephrolithiasis and nephrocalcinosis.J Urol. 2013;190:552-557.
    • (2013) J Urol. , vol.190 , pp. 552-557
    • Dinour, D.1    Beckerman, P.2    Ganon, L.3    Tordjman Keisenstein, Z.4    Holtzman, E.J.5
  • 17
    • 84872596772 scopus 로고    scopus 로고
    • Severe hypercalcemic crisis in an infant withidiopathic infantile hypercalcemia caused by mutation inCYP24A1 gene
    • Fencl F, Bláhová K, Schlingmann KP, Konrad M,Seeman T. Severe hypercalcemic crisis in an infant withidiopathic infantile hypercalcemia caused by mutation inCYP24A1 gene. Eur J Pediatr. 2013;172:45-49.
    • (2013) Eur J Pediatr. , vol.172 , pp. 45-49
    • Fencl, F.1    Bláhová, K.2    Schlingmann, K.P.3    Konrad, M.4    Seeman, T.5
  • 18
    • 84875738866 scopus 로고    scopus 로고
    • Medullary nephrocalcinosis in anadult patient with idiopathic infantile hypercalcaemia and anovel CYP24A1 mutation
    • Meusburger E, Mündlein A, Zitt E, Obermayer-PietschB, Kotzot D, Lhotta K. Medullary nephrocalcinosis in anadult patient with idiopathic infantile hypercalcaemia and anovel CYP24A1 mutation. Clin Kidney J. 2013;6:211-215.
    • (2013) Clin Kidney J. , vol.6 , pp. 211-215
    • Meusburger, E.1    Mündlein, A.2    Zitt, E.3    Obermayer-Pietsch, B.4    Kotzot, D.5    Lhotta, K.6
  • 19
    • 84875164688 scopus 로고    scopus 로고
    • Kidney diseases intravenous pamidronatein the treatment of severe idiopathic infantile hypercalcemia
    • Skalova S, Cerna L, Bayer M, Kutilek S, Konrad M,Schlingmann KP. Kidney diseases intravenous pamidronatein the treatment of severe idiopathic infantile hypercalcemia.Iran J Kidney Dis. 2013;7:160-164.
    • (2013) Iran J Kidney Dis. , vol.7 , pp. 160-164
    • Skalova, S.1    Cerna, L.2    Bayer, M.3    Kutilek, S.4    Konrad Mschlingmann, K.P.5
  • 20
    • 37249052767 scopus 로고    scopus 로고
    • Genetics of hypercalciuricnephrolithiasis: Renal stone disease
    • Stechman MJ, Loh NY, Thakker RV. Genetics of hypercalciuricnephrolithiasis: renal stone disease. Ann N Y AcadSci. 2007;1116:461-484.
    • (2007) Ann N y AcadSci. , vol.1116 , pp. 461-484
    • Stechman, M.J.1    Loh, N.Y.2    Thakker, R.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.