D Vitamini Eksikliği ve Raşitizm

Holick MF, MacLaughlin JA, Doppelt SH. Regulation of cutaneous previtamin D3 photosynthesis in man: skin pigment is not an essential regulator. Science. 1981;211(4482):590-593. doi:10.1126/science.6256855

Holick MF. Vitamin D: A millenium perspective. Journal Of Cellular Biochemistry. 2003;88(2):296-307. doi:10.1002/jcb.10338

Brown AJ. Regulation of vitamin D action. Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association - European Renal Association, 1999;14(1):11-16. doi:10.1093/ndt/14.1.11

Christakos S, Ajibade DV, Dhawan P, Fechner AJ, Mady LJ. Vitamin D: metabolism. Endocrinology And Metabolism Clinics Of North America. 2010;39(2):243-253. doi:10.1016/j.ecl.2010.02.002

Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S. 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Science. 1997;277(5333):1827-1830. doi:10.1126/science.277.5333.1827

Hewison M, Burke F, Evans KN, et al. Extra-renal 25-hydroxyvitamin D3-1alpha-hydroxylase in human health and disease. The Journal Of Steroid Biochemistry And Molecular Biology. 2007;103(3-5):316-321. doi:10.1016/j.jsbmb.2006.12.078

van Driel M, Koedam M, Buurman CJ, et al. Evidence that both 1alpha,25-dihydroxyvitamin D3 and 24-hydroxylated D3 enhance human osteoblast differentiation and mineralization. Journal Of Cellular Biochemistry. 2006; 99(3):922-935. doi:10.1002/jcb.20875

Portale AA, Halloran BP, Morris RC Jr. Physiologic regulation of the serum concentration of 1,25-dihydroxyvitamin D by phosphorus in normal men. The Journal of clinical investigation, 1989;83(5):1494-1499. doi:10.1172/JCI114043

Prié D, Friedlander G. Reciprocal control of 1,25-dihydroxyvitamin D and FGF23 formation involving the FGF23/Klotho system. Clinical Journal Of The American Society Of Nephrology. 2010;5(9):1717-1722. doi:10.2215/CJN.02680310

Pitt MJ. Rickets and osteomalacia are still around. Radiologic clinics of North America, 1991;29(1):97-118.

Thandrayen K, Pettifor JM. Maternal vitamin D status: implications for the development of infantile nutritional rickets. Rheumatic Diseases Clinics Of North America. 2012;38(1):61-79. doi:10.1016/j.rdc.2012.03.007

Misra M, Pacaud D, Petryk A, Collett-Solberg PF, Kappy M; Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society. Vitamin D deficiency in children and its management: review of current knowledge and recommendations. Pediatrics. 2008;122(2):398-417. doi:10.1542/peds.2007-1894

Beck-Nielsen, S.S., et al., Nutritional rickets in Denmark: a retrospective review of children’s medical records from 1985 to 2005. European Journal Of Pediatrics. 2009. 168(8): p. 941-949.

Robinson PD, Högler W, Craig ME, et al. The re-emerging burden of rickets: a decade of experience from Sydney. Archives Of Disease In Childhood. 2006;91(7):564-568. doi:10.1136/adc.2004.069575

Ward LM, Gaboury I, Ladhani M, Zlotkin S. Vitamin D-deficiency rickets among children in Canada. Canadian Medical Association Journal. 2007;177(2):161-166. doi:10.1503/cmaj.061377

Hatun S, Ozkan B, Orbak Z, et al. Vitamin D deficiency in early infancy. The Journal Of Nutrition, 2005;135(2):279-282. doi:10.1093/jn/135.2.279

Hollis BW, Roos BA, Draper HH, Lambert PW. Vitamin D and its metabolites in human and bovine milk. The Journal Of Nutrition, 1981;111(7):1240-1248. doi:10.1093/jn/111.7.1240

Reeve LE, Chesney RW, DeLuca HF. Vitamin D of human milk: identification of biologically active forms. The American Journal Of Clinical Nutrition. 1982;36(1):122-126. doi:10.1093/ajcn/36.1.122

Specker BL, Tsang RC, Hollis BW. Effect of race and diet on human-milk vitamin D and 25-hydroxyvitamin D. American Journal Of Diseases Of Children 1985;139(11):1134-1137. doi:10.1001/archpedi.1985.02140130072032

Chapman T, Sugar N, Done S, Marasigan J, Wambold N, Feldman K. Fractures in infants and toddlers with rickets Pediatric Radiology. 2010;40(7):1184-1189. doi:10.1007/s00247-009-1470-8

Carvalho NF, Kenney RD, Carrington PH, Hall DE. Severe nutritional deficiencies in toddlers resulting from health food milk alternatives. Pediatrics. 2001;107(4):E46. doi:10.1542/peds.107.4.e46

Prasad C, Cummings E. Rickets presenting as gross motor delay in twin girls. Canadian Medical Association journal. 2018;190(18):E565-E568. doi:10.1503/cmaj.170962

Muhe L, Lulseged S, Mason KE, Simoes EA. Case-control study of the role of nutritional rickets in the risk of developing pneumonia in Ethiopian children. Lancet. 1997;349(9068):1801-1804. doi:10.1016/S0140-6736(96)12098-5

Najada AS, Habashneh MS, Khader M. The frequency of nutritional rickets among hospitalized infants and its relation to respiratory diseases. Journal of66 Tropical Pediatrics. 2004;50(6):364-368. doi:10.1093/tropej/50.6.364

Munns C, Zacharin MR, Rodda CP, et al. Prevention and treatment of infant and childhood vitamin D deficiency in Australia and New Zealand: a consensus statement. The Medical Journal of Australia. 2006;185(5):268-272. doi:10.5694/j.1326-5377. 2006.tb00558.x

Munns CF, Shaw N, Kiely M, et al. Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. Hormone Research In Paediatrics. 2016;85(2):83-106. doi:10.1159/000443136

DeLucia MC, Mitnick ME, Carpenter TO. Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants. Journal Of Clinical Endocrinology and Metabolism. 2003;88(8):3539-3545. doi:10.1210/jc.2002-021935

Pfitzner MA, Thacher TD, Pettifor JM, et al. Absence of vitamin D deficiency in young Nigerian children. The Journal Of Pediatrics. 1998;133(6):740-744. doi:10.1016/s0022-3476(98)70143-x

Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proceedings Of the National Academy Of Sciences Of The United States Of America, 2004;101(20):7711-7715. doi:10.1073/pnas.0402490101

Prader, A., R. Illig, E. Heierli, An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets. Helvetica Paediatrica Acta, 1961 (16)452-468.

Edouard T, Alos N, Chabot G, Roughley P, Glorieux FH, Rauch F. Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol. The Journal Of Clinical Endocrinology And Metabolism. 2011;96(1):82-89. doi:10.1210/jc.2010-1340

Kim CJ, Kaplan LE, Perwad F, et al. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. The Journal Of Clinical Endocrinology And Metabolism. 2007;92(8):3177-3182. doi:10.1210/jc.2006-2664

Kitanaka S, Takeyama K, Murayama A, et al. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. The New England Journal Of Medicine, 1998;338(10):653-661. doi:10.1056/NEJM199803053381004

Malloy PJ, Feldman D. Genetic disorders and defects in vitamin D action. Rheumatic diseases clinics of North America. 2012;38(1):93-106. doi:10.1016/j.rdc.2012.03.009

Chen CH, Sakai Y, Demay MB. Targeting expression of the human vitamin D receptor to the keratinocytes of vitamin D receptor null mice prevents alopecia. Endocrinology. 2001;142(12):5386-5389. doi:10.1210/endo.142.12.8650

Sakai Y, Kishimoto J, Demay MB. Metabolic and cellular analysis of alopecia in vitamin D receptor knockout mice. The Journal of clinical investigation. 2001;107(8):961-966. doi:10.1172/JCI11676

Darendeliler F, Aycan Z, Kara C, Çocuk Endokrinolojisi ve Diyabet, İstanbul Tıp Kitabevleri, 2021

Holick MF, MacLaughlin JA, Doppelt SH. Regulation of cutaneous previtamin D3 photosynthesis in man: skin pigment is not an essential regulator. Science. 1981;211(4482):590-593. doi:10.1126/science.6256855

Holick MF. Vitamin D: A millenium perspective. Journal Of Cellular Biochemistry. 2003;88(2):296-307. doi:10.1002/jcb.10338

Brown AJ. Regulation of vitamin D action. Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association - European Renal Association, 1999;14(1):11-16. doi:10.1093/ndt/14.1.11

Christakos S, Ajibade DV, Dhawan P, Fechner AJ, Mady LJ. Vitamin D: metabolism. Endocrinology And Metabolism Clinics Of North America. 2010;39(2):243-253. doi:10.1016/j.ecl.2010.02.002

Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S. 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Science. 1997;277(5333):1827-1830. doi:10.1126/science.277.5333.1827

Hewison M, Burke F, Evans KN, et al. Extra-renal 25-hydroxyvitamin D3-1alpha-hydroxylase in human health and disease. The Journal Of Steroid Biochemistry And Molecular Biology. 2007;103(3-5):316-321. doi:10.1016/j.jsbmb.2006.12.078

van Driel M, Koedam M, Buurman CJ, et al. Evidence that both 1alpha,25-dihydroxyvitamin D3 and 24-hydroxylated D3 enhance human osteoblast differentiation and mineralization. Journal Of Cellular Biochemistry. 2006; 99(3):922-935. doi:10.1002/jcb.20875

Portale AA, Halloran BP, Morris RC Jr. Physiologic regulation of the serum concentration of 1,25-dihydroxyvitamin D by phosphorus in normal men. The Journal of clinical investigation, 1989;83(5):1494-1499. doi:10.1172/JCI114043

Prié D, Friedlander G. Reciprocal control of 1,25-dihydroxyvitamin D and FGF23 formation involving the FGF23/Klotho system. Clinical Journal Of The American Society Of Nephrology. 2010;5(9):1717-1722. doi:10.2215/CJN.02680310

Pitt MJ. Rickets and osteomalacia are still around. Radiologic clinics of North America, 1991;29(1):97-118.

Thandrayen K, Pettifor JM. Maternal vitamin D status: implications for the development of infantile nutritional rickets. Rheumatic Diseases Clinics Of North America. 2012;38(1):61-79. doi:10.1016/j.rdc.2012.03.007

Misra M, Pacaud D, Petryk A, Collett-Solberg PF, Kappy M; Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society. Vitamin D deficiency in children and its management: review of current knowledge and recommendations. Pediatrics. 2008;122(2):398-417. doi:10.1542/peds.2007-1894

Beck-Nielsen, S.S., et al., Nutritional rickets in Denmark: a retrospective review of children’s medical records from 1985 to 2005. European Journal Of Pediatrics. 2009. 168(8): p. 941-949.

Robinson PD, Högler W, Craig ME, et al. The re-emerging burden of rickets: a decade of experience from Sydney. Archives Of Disease In Childhood. 2006;91(7):564-568. doi:10.1136/adc.2004.069575

Ward LM, Gaboury I, Ladhani M, Zlotkin S. Vitamin D-deficiency rickets among children in Canada. Canadian Medical Association Journal. 2007;177(2):161-166. doi:10.1503/cmaj.061377

Hatun S, Ozkan B, Orbak Z, et al. Vitamin D deficiency in early infancy. The Journal Of Nutrition, 2005;135(2):279-282. doi:10.1093/jn/135.2.279

Hollis BW, Roos BA, Draper HH, Lambert PW. Vitamin D and its metabolites in human and bovine milk. The Journal Of Nutrition, 1981;111(7):1240-1248. doi:10.1093/jn/111.7.1240

Reeve LE, Chesney RW, DeLuca HF. Vitamin D of human milk: identification of biologically active forms. The American Journal Of Clinical Nutrition. 1982;36(1):122-126. doi:10.1093/ajcn/36.1.122

Specker BL, Tsang RC, Hollis BW. Effect of race and diet on human-milk vitamin D and 25-hydroxyvitamin D. American Journal Of Diseases Of Children 1985;139(11):1134-1137. doi:10.1001/archpedi.1985.02140130072032

Chapman T, Sugar N, Done S, Marasigan J, Wambold N, Feldman K. Fractures in infants and toddlers with rickets Pediatric Radiology. 2010;40(7):1184-1189. doi:10.1007/s00247-009-1470-8

Carvalho NF, Kenney RD, Carrington PH, Hall DE. Severe nutritional deficiencies in toddlers resulting from health food milk alternatives. Pediatrics. 2001;107(4):E46. doi:10.1542/peds.107.4.e46

Prasad C, Cummings E. Rickets presenting as gross motor delay in twin girls. Canadian Medical Association journal. 2018;190(18):E565-E568. doi:10.1503/cmaj.170962

Muhe L, Lulseged S, Mason KE, Simoes EA. Case-control study of the role of nutritional rickets in the risk of developing pneumonia in Ethiopian children. Lancet. 1997;349(9068):1801-1804. doi:10.1016/S0140-6736(96)12098-5

Najada AS, Habashneh MS, Khader M. The frequency of nutritional rickets among hospitalized infants and its relation to respiratory diseases. Journal of66 Tropical Pediatrics. 2004;50(6):364-368. doi:10.1093/tropej/50.6.364

Munns C, Zacharin MR, Rodda CP, et al. Prevention and treatment of infant and childhood vitamin D deficiency in Australia and New Zealand: a consensus statement. The Medical Journal of Australia. 2006;185(5):268-272. doi:10.5694/j.1326-5377. 2006.tb00558.x

Munns CF, Shaw N, Kiely M, et al. Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. Hormone Research In Paediatrics. 2016;85(2):83-106. doi:10.1159/000443136

DeLucia MC, Mitnick ME, Carpenter TO. Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants. Journal Of Clinical Endocrinology and Metabolism. 2003;88(8):3539-3545. doi:10.1210/jc.2002-021935

Pfitzner MA, Thacher TD, Pettifor JM, et al. Absence of vitamin D deficiency in young Nigerian children. The Journal Of Pediatrics. 1998;133(6):740-744. doi:10.1016/s0022-3476(98)70143-x

Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proceedings Of the National Academy Of Sciences Of The United States Of America, 2004;101(20):7711-7715. doi:10.1073/pnas.0402490101

Prader, A., R. Illig, E. Heierli, An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets. Helvetica Paediatrica Acta, 1961 (16)452-468.

Edouard T, Alos N, Chabot G, Roughley P, Glorieux FH, Rauch F. Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol. The Journal Of Clinical Endocrinology And Metabolism. 2011;96(1):82-89. doi:10.1210/jc.2010-1340

Kim CJ, Kaplan LE, Perwad F, et al. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. The Journal Of Clinical Endocrinology And Metabolism. 2007;92(8):3177-3182. doi:10.1210/jc.2006-2664

Kitanaka S, Takeyama K, Murayama A, et al. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. The New England Journal Of Medicine, 1998;338(10):653-661. doi:10.1056/NEJM199803053381004

Malloy PJ, Feldman D. Genetic disorders and defects in vitamin D action. Rheumatic diseases clinics of North America. 2012;38(1):93-106. doi:10.1016/j.rdc.2012.03.009

Chen CH, Sakai Y, Demay MB. Targeting expression of the human vitamin D receptor to the keratinocytes of vitamin D receptor null mice prevents alopecia. Endocrinology. 2001;142(12):5386-5389. doi:10.1210/endo.142.12.8650

Sakai Y, Kishimoto J, Demay MB. Metabolic and cellular analysis of alopecia in vitamin D receptor knockout mice. The Journal of clinical investigation. 2001;107(8):961-966. doi:10.1172/JCI11676

Darendeliler F, Aycan Z, Kara C, Çocuk Endokrinolojisi ve Diyabet, İstanbul Tıp Kitabevleri, 2021