Rickets

References

Key articles

American College of Obstetricians and Gynecologists. ACOG committee opinion no. 495: vitamin D: screening and supplementation during pregnancy. Jul 2011 [internet publication].Full text

Munns CF, Shaw N, Kiely M, et al. Global consensus recommendations on prevention and management of nutritional rickets. J Clin Endocrinol Metab. 2016 Feb;101(2):394-415.Full text  Abstract

Reference articles

1. Pettifor JM. Rickets and vitamin D deficiency in children and adolescents. Endocrinol Metab Clin North Am. 2005 Sep;34(3):537-53, vii. Abstract

2. Pitt MJ. Rickets and osteomalacia are still around. Radiol Clin North Am. 1991 Jan;29(1):97-118. Abstract

3. Elder CJ, Bishop NJ. Rickets. Lancet. 2014 May 10;383(9929):1665-76. Abstract

4. Nield LS, Mahajan P, Joshi A, et al. Rickets: not a disease of the past. Am Fam Physician. 2006 Aug 15;74(4):619-26.Full text  Abstract

5. Chesney RW. Bone structure, growth, and hormonal regulation. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson textbook of pediatrics, 17th ed. Philadelphia, PA: Saunders; 2004.

6. Alizadeh Naderi AS, Reilly RF. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010 Nov;6(11):657-65. Abstract

7. Beck-Nielsen SS, Brusgaard K, Rasmussen LM, et al. Phenotype presentation of hypophosphatemic rickets in adults. Calcif Tissue Int. 2010 Aug;87(2):108-19. Abstract

8. Thacher TD, Fischer PR, Tebben PJ, et al. Increasing incidence of nutritional rickets: a population-based study in Olmsted County, Minnesota. Mayo Clin Proc. 2013 Feb;88(2):176-83. Abstract

9. Weisberg P, Scanlon KS, Li R, et al. Nutritional rickets among children in the United States: review of cases reported between 1986 and 2003. Am J Clin Nutr. 2004 Dec;80(6 Suppl):1697S-705S.Full text  Abstract

10. Julies P, Lynn RM, Pall K, et al. Nutritional rickets under 16 years: UK surveillance results. Arch Dis Child. 2020 Jun;105(6):587-92. Abstract

11. World Health Organization. Nutritional rickets: a review of disease burden, causes, diagnosis, prevention and treatment. November 2019 [internet publication].Full text

12. Holick MF. Resurrection of vitamin D deficiency and rickets. J Clin Invest. 2006 Aug;116(8):2062-72.Full text  Abstract

13. Gupta P, Dabas A, Seth A, et, al. Indian Academy of Pediatrics revised (2021) guidelines on prevention and treatment of vitamin D deficiency and rickets. Indian Pediatr. 2022 Feb 15;59(2):142-58.Full text  Abstract

14. Diehl JW, Chiu MW. Effects of ambient sunlight and photoprotection on vitamin D status. Dermatol Ther. 2010 Jan-Feb;23(1):48-60. Abstract

15. Rafaelsen S, Johansson S, Ræder H, et al. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016 Feb;174(2):125-36.Full text  Abstract

16. Bandeira F, Griz L, Dreyer P, et al. Vitamin D deficiency: a global perspective. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):640-6.Full text  Abstract

17. Prié D, Friedlander G. Genetic disorders of renal phosphate transport. N Engl J Med. 2010 Jun 24;362(25):2399-409. Abstract

18. Chanchlani R, Nemer P, Sinha R, et al. An overview of rickets in children. Kidney Int Rep. 2020 Jul;5(7):980-90.Full text  Abstract

19. American College of Obstetricians and Gynecologists. ACOG committee opinion no. 495: vitamin D: screening and supplementation during pregnancy. Jul 2011 [internet publication].Full text

20. Tan ML, Abrams SA, Osborn DA. Vitamin D supplementation for term breastfed infants to prevent vitamin D deficiency and improve bone health. Cochrane Database Syst Rev. 2020 Dec 11;12:CD013046.Full text  Abstract

21. Ross AC, Manson JE, Abrams SA, et al. The 2011 report on dietary reference intakes for calcium and vitamin D from the Institute of Medicine: what clinicians need to know. J Clin Endocrinol Metab. 2011 Jan;96(1):53-8. Abstract

22. Palacios C. The role of nutrients in bone health, from A to Z. Crit Rev Food Sci Nutr. 2006;46(8):621-8. Abstract

23. Dobrescu MO, Garcia AC, Robert M. Rickets. CMAJ. 2006 Jun 6;174(12):1710.Full text  Abstract

24. Payne RB. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem. 1998 Mar;35(Pt 2):201-6. Abstract

25. Carpenter TO, Imel EA, Holm IA, et al. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 Jul;26(7):1381-8. [Erratum in: J Bone Miner Res. 2015 Feb;30(2):394.]Full text  Abstract

26. Munns CF, Shaw N, Kiely M, et al. Global consensus recommendations on prevention and management of nutritional rickets. J Clin Endocrinol Metab. 2016 Feb;101(2):394-415.Full text  Abstract

27. Drezner MK. Osteomalacia and rickets. In: Goldman L, Ausiello D, eds. Cecil textbook of medicine, 22nd ed. Philadelphia, PA: Saunders Publishing; 2004:1555-62.

28. Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019 Jul;15(7):435-55.Full text  Abstract

29. Imel EA, Glorieux FH, Whyte MP, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019 Jun 15;393(10189):2416-27. Abstract

30. Carpenter TO, Imel EA, Ruppe MD, et al. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest. 2014 Apr;124(4):1587-97.Full text  Abstract

31. Zhang X, Imel EA, Ruppe MD, et al. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia. J Clin Pharmacol. 2016 Feb;56(2):176-85.Full text  Abstract

32. Imel EA, Zhang X, Ruppe MD, et al. Prolonged correction of serum phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23. J Clin Endocrinol Metab. 2015 Jul;100(7):2565-73.Full text  Abstract

33. Rothenbuhler A, Esterle L, Gueorguieva I, et al. Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). Growth Horm IGF Res. 2017 Oct;36:11-15. Abstract

34. Živičnjak M, Schnabel D, Staude H, et al. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105.Full text  Abstract

35. Meyerhoff N, Haffner D, Staude H, et al. Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2018 Mar;33(3):447-56. Abstract

36. Smith S, Remmington T. Recombinant growth hormone therapy for X-linked hypophosphatemia in children. Cochrane Database Syst Rev. 2021 Oct 7;10(10):CD004447.Full text  Abstract

37. Liu ES, Carpenter TO, Gundberg CM, et al. Calcitonin administration in X-linked hypophosphatemia. N Engl J Med. 2011 Apr 28;364(17):1678-80. Abstract

38. Sullivan R, Abraham A, Simpson C, et al. Three-month randomized clinical trial of nasal calcitonin in adults with X-linked hypophosphatemia. Calcif Tissue Int. 2018 Jun;102(6):666-70. Abstract

39. Carpenter TO, Olear EA, Zhang JH, et al. Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. J Clin Endocrinol Metab. 2014 Sep;99(9):3103-11. Abstract

40. Holick MF, Binkley NC, Bischoff-Ferrari HA, et al. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2011 Jul;96(7):1911-30.Full text  Abstract

41. Institute of Medicine Food and Nutrition Board. Dietary reference intakes for calcium and vitamin D. Washington, D.C.: The National Academies Press; 2011.Full text

42. ​Indian Academy of Pediatrics. Rickets: standard treatment guidelines 2022. 2022 [internet publication].Full text

43. Oginni LM, Sharp CA, Badru OS, et al. Radiological and biochemical resolution of nutritional rickets with calcium. Arch Dis Child. 2003 Sep;88(9):812-7. Abstract

44. Malloy PJ, Hochberg Z, Tiosano D, et al. The molecular basis of hereditary 1, 25-dihydroxyvitamin D3 resistant rickets in seven related families. J Clin Invest. 1990 Dec;86(6):2071-9.Full text  Abstract

45. Mäkitie O, Doria A, Kooh SW, et al. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2003 Aug;88(8):3591-7.Full text  Abstract

46. de Menezes Filho H, de Castro LC, Damiani D. Hypophosphatemic rickets and osteomalacia. Arg Bras Endocrinol Metabol. 2006 Aug;50(4):802-13. Abstract

47. Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997 Feb;82(2):674-81.Full text  Abstract

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