메뉴 건너뛰기




Volumn 30, Issue 1, 2015, Pages 145-152

Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake

Author keywords

CYP24A1; Hypercalciuria; Infantile hypercalcemia; Maternal hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Vitamin D

Indexed keywords

ALKALINE PHOSPHATASE; BISPHOSPHONIC ACID DERIVATIVE; CALCITONIN; CALCIUM; CALCIUM ION; CEFTRIAXONE; COLECALCIFEROL 24 HYDROXYLASE; CORTICOSTEROID; CREATININE; ELECTROLYTE; FUROSEMIDE; GENOMIC DNA; GLUCOSE; NITRITE; OXYGENASE; PAMIDRONIC ACID; PARATHYROID HORMONE; PHOSPHATE; PREDNISONE; PROTEIN HYDROLYSATE; SERUM ALBUMIN; SODIUM CHLORIDE; THIAZIDE DIURETIC AGENT; TUMS; VITAMIN D; CYP24A1 PROTEIN, HUMAN; VITAMIN;

EID: 84920944705     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-014-2889-1     Document Type: Article
Times cited : (69)

References (21)
  • 1
    • 2342510068 scopus 로고
    • Chronic disorders of calcium and phosphate metabolism in children
    • COI: 1:CAS:528:DyaG38XhsFansQ%3D%3D, PID: 14876389
    • Fanconi G (1951) Chronic disorders of calcium and phosphate metabolism in children. Schweiz Med Wochenschr 81:908–913
    • (1951) Schweiz Med Wochenschr , vol.81 , pp. 908-913
    • Fanconi, G.1
  • 2
    • 49749212730 scopus 로고
    • Idiopathic hypercalcaemia in infants
    • Lightwood R, Stapleton T (1953) Idiopathic hypercalcaemia in infants. Lancet 262:255–256
    • (1953) Lancet , vol.262 , pp. 255-256
    • Lightwood, R.1    Stapleton, T.2
  • 5
    • 80455162447 scopus 로고    scopus 로고
    • CYP24A1 mutations in idiopathic infantile hypercalcemia
    • COI: 1:CAS:528:DC%2BC3MXhsVWqurzI, PID: 22047572, author reply 1742–1743
    • Streeten EA, Zarbalian K, Damcott CM (2011) CYP24A1 mutations in idiopathic infantile hypercalcemia. N Engl J Med 365:1741–1742, author reply 1742–1743
    • (2011) N Engl J Med , vol.365 , pp. 1741-1742
    • Streeten, E.A.1    Zarbalian, K.2    Damcott, C.M.3
  • 6
    • 84880045700 scopus 로고    scopus 로고
    • Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis
    • COI: 1:CAS:528:DC%2BC3sXpvVynu7c%3D, PID: 23470222
    • Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ (2013) Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol 190:552–557
    • (2013) J Urol , vol.190 , pp. 552-557
    • Dinour, D.1    Beckerman, P.2    Ganon, L.3    Tordjman, K.4    Eisenstein, Z.5    Holtzman, E.J.6
  • 7
    • 84863229578 scopus 로고    scopus 로고
    • Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy
    • COI: 1:CAS:528:DC%2BC38Xkt1ymt7w%3D, PID: 22337913
    • Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, Wu Y, Foreman JW, Chelminski PR, Kumar R (2012) Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab 97:E423–E427
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E423-E427
    • Tebben, P.J.1    Milliner, D.S.2    Horst, R.L.3    Harris, P.C.4    Singh, R.J.5    Wu, Y.6    Foreman, J.W.7    Chelminski, P.R.8    Kumar, R.9
  • 8
    • 82855166085 scopus 로고    scopus 로고
    • Calcium and bone metabolism disorders during pregnancy and lactation
    • COI: 1:CAS:528:DC%2BC3MXhsFSjtLnL, PID: 22108281
    • Kovacs CS (2011) Calcium and bone metabolism disorders during pregnancy and lactation. Endocrinol Metab Clin North Am 40:795–826
    • (2011) Endocrinol Metab Clin North Am , vol.40 , pp. 795-826
    • Kovacs, C.S.1
  • 9
    • 79958810315 scopus 로고    scopus 로고
    • CYP24A1 and kidney disease
    • COI: 1:CAS:528:DC%2BC3MXntF2ns7s%3D, PID: 21610497
    • Petkovich M, Jones G (2011) CYP24A1 and kidney disease. Curr Opin Nephrol Hypertens 20:337–344
    • (2011) Curr Opin Nephrol Hypertens , vol.20 , pp. 337-344
    • Petkovich, M.1    Jones, G.2
  • 10
    • 12344280997 scopus 로고    scopus 로고
    • Altered pharmacokinetics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse
    • COI: 1:CAS:528:DC%2BD2MXotlWgtQ%3D%3D, PID: 15498883
    • Masuda S, Byford V, Arabian A, Sakai Y, Demay MB, St-Arnaud R, Jones G (2005) Altered pharmacokinetics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse. Endocrinology 146:825–834
    • (2005) Endocrinology , vol.146 , pp. 825-834
    • Masuda, S.1    Byford, V.2    Arabian, A.3    Sakai, Y.4    Demay, M.B.5    St-Arnaud, R.6    Jones, G.7
  • 11
    • 0003331543 scopus 로고    scopus 로고
    • 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
    • COI: 1:CAS:528:DC%2BD3cXlt1Wmu7w%3D, PID: 10875271
    • 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
    • (2000) Endocrinology , vol.141 , pp. 2658-2666
    • St-Arnaud, R.1    Arabian, A.2    Travers, R.3    Barletta, F.4    Raval-Pandya, M.5    Chapin, K.6    Depovere, J.7    Mathieu, C.8    Christakos, S.9    Demay, M.B.10    Glorieux, F.H.11
  • 12
    • 79961228421 scopus 로고    scopus 로고
    • Vitamin D supplementation during pregnancy: double-blind, randomized clinical trial of safety and effectiveness
    • COI: 1:CAS:528:DC%2BC3MXht1yitLnL, PID: 21706518
    • Hollis BW, Johnson D, Hulsey TC, Ebeling M, Wagner CL (2011) Vitamin D supplementation during pregnancy: double-blind, randomized clinical trial of safety and effectiveness. J Bone Miner Res 26:2341–2357
    • (2011) J Bone Miner Res , vol.26 , pp. 2341-2357
    • Hollis, B.W.1    Johnson, D.2    Hulsey, T.C.3    Ebeling, M.4    Wagner, C.L.5
  • 13
    • 84872868674 scopus 로고    scopus 로고
    • Vitamin D—effects on skeletal and extraskeletal health and the need for supplementation
    • COI: 1:CAS:528:DC%2BC3sXhs1yrt7g%3D, PID: 23306192
    • Wacker M, Holick MF (2013) Vitamin D—effects on skeletal and extraskeletal health and the need for supplementation. Nutrients 5:111–148
    • (2013) Nutrients , vol.5 , pp. 111-148
    • Wacker, M.1    Holick, M.F.2
  • 15
    • 0036307924 scopus 로고    scopus 로고
    • Primary hyperparathyroidism in pregnancy: evidence-based management
    • PID: 12140371
    • Schnatz PF, Curry SL (2002) Primary hyperparathyroidism in pregnancy: evidence-based management. Obstet Gynecol Surv 57:365–376
    • (2002) Obstet Gynecol Surv , vol.57 , pp. 365-376
    • Schnatz, P.F.1    Curry, S.L.2
  • 16
    • 52949119588 scopus 로고    scopus 로고
    • Maternal hypercalcemia as a possible cause of unexplained fetal polyhydramnion: a case series
    • Shani H, Sivan E, Cassif E, Simchen MJ (2008) Maternal hypercalcemia as a possible cause of unexplained fetal polyhydramnion: a case series. Am J Obstet Gynecol 199(410):e411–e415
    • (2008) Am J Obstet Gynecol , vol.199 , Issue.410 , pp. e411-e415
    • Shani, H.1    Sivan, E.2    Cassif, E.3    Simchen, M.J.4
  • 17
    • 0025305635 scopus 로고
    • Parathyroid hormone-related protein and hypercalcemia secondary to massive mammary hyperplasia
    • COI: 1:STN:280:DyaK3c3gs1Sisw%3D%3D, PID: 2320085
    • Khosla S, van Heerden JA, Gharib H, Jackson IT, Danks J, Hayman JA, Martin TJ (1990) Parathyroid hormone-related protein and hypercalcemia secondary to massive mammary hyperplasia. N Engl J Med 322:1157
    • (1990) N Engl J Med , vol.322 , pp. 1157
    • Khosla, S.1    van Heerden, J.A.2    Gharib, H.3    Jackson, I.T.4    Danks, J.5    Hayman, J.A.6    Martin, T.J.7
  • 18
    • 80051546372 scopus 로고    scopus 로고
    • Hypercalcemia in pregnancy: a case of Milk-alkali syndrome
    • PID: 21347876
    • Kolnick L, Harris BD, Choma DP, Choma NN (2011) Hypercalcemia in pregnancy: a case of Milk-alkali syndrome. J Gen Intern Med 26:939–942
    • (2011) J Gen Intern Med , vol.26 , pp. 939-942
    • Kolnick, L.1    Harris, B.D.2    Choma, D.P.3    Choma, N.N.4
  • 20
    • 17144414069 scopus 로고    scopus 로고
    • Life-threatening milk-alkali syndrome resulting from antacid ingestion during pregnancy
    • PID: 15804228
    • Gordon MV, McMahon LP, Hamblin PS (2005) Life-threatening milk-alkali syndrome resulting from antacid ingestion during pregnancy. Med J Aust 182:350–351
    • (2005) Med J Aust , vol.182 , pp. 350-351
    • Gordon, M.V.1    McMahon, L.P.2    Hamblin, P.S.3
  • 21
    • 0036047091 scopus 로고    scopus 로고
    • Milk-alkali syndrome in pregnancy, associated with elevated levels of parathyroid hormone-related protein
    • COI: 1:STN:280:DC%2BD38nit1GntQ%3D%3D, PID: 12380706
    • Morton A (2002) Milk-alkali syndrome in pregnancy, associated with elevated levels of parathyroid hormone-related protein. Intern Med J 32:492–493
    • (2002) Intern Med J , vol.32 , pp. 492-493
    • Morton, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.