A practical approach to diagnose and treat rickets

Aditi Jaiman 1, Lokesh Tiwari 2, Jatin Prakash 3, Ashish Jaiman 4 *
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1 SK Nursing Home and Hospital, Tikonia, G.B. Pant Marg, Haldwani, Uttarakhand, India
2 Department Paediatrics, All India Institute of Medical Sciences, Patna, India
3 Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, India
4 Central Institute of Orthopaedics, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, India
* Corresponding Author
J CLIN MED KAZ, Volume 18, Issue 1, pp. 7-13. https://doi.org/10.23950/jcmk/9658
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ABSTRACT

Rickets is a disease of growing bone, before fusion of epiphyses. There is defective mineralization of cartilage matrix in the zone of provisional calcification caused either by nutritional vitamin D deficiency and/or low calcium intake or by non-nutritional causes, like hypophosphatemic rickets and rickets due to renal tubular acidosis. In addition, some varieties are due to inherited defects in vitamin D metabolism and are called vitamin D dependent rickets. The diagnosis is made on the basis of history, physical examination, and biochemical testing, and is confirmed by radiographs. Treatment consists of vitamin D supplementation as Stoss therapy or daily or weekly oral regimens, all with equal efficacy and safety, combined with calcium supplements. For renal rickets, the active form of Vit D, 1,25(OH)2 also called Calcitriol is used, treatment is tailored to another type of renal rickets. 
Routine supplementation starting from the newborn period is being increasingly endorsed by various international organizations. Adequate sunlight exposure, food fortification, and routine supplementation are the currently available options for tackling this nutritional deficiency. In this review article, we discuss the pathophysiology, diagnosis, and management of rickets in detail.
Keywords: Rickets, Vitamin D, Hypophosphatemic rickets, renal rickets

CITATION

Jaiman A, Tiwari L, Prakash J, Jaiman A. A practical approach to diagnose and treat rickets. J CLIN MED KAZ. 2021;18(1):7-13. https://doi.org/10.23950/jcmk/9658

REFERENCES

  • Greenbaum LA. Rickets and Hypervitaminosis D. In Robert Kliegman: Editor, Nelsons Textbook of Pediatrics. 1st South Asia edition. Elsevier India. 2016; 331-341.
  • Ladhani S, Srinivasan L, Buchanan C, Allgrove J. Presentation of vitamin D deficiency. Arch Dis Child. 2004; 89(8):781-4. doi: 10.1136/adc.2003.031385. PMID: 15269083; PMCID: PMC1720051.
  • Najada AS, Habashneh MS, Khader M. The frequency of nutritional rickets among hospitalized infants and its relation to respiratory diseases. J Trop Pediatr. 2004; 50(6):364-8. doi: 10.1093/tropej/50.6.364. PMID: 15537725.
  • Wagner CL, Greer FR; American Academy of Pediatrics Section on Breastfeeding; American Academy of Pediatrics Committee on Nutrition. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents. Pediatrics. 2008; 122(5):1142-52. doi: 10.1542/peds.2008-1862. Erratum in: Pediatrics. 2009; 123(1):197. PMID: 18977996.
  • Webb AR. Who, what, where and when-influences on cutaneous vitamin D synthesis. Prog Biophys Mol Biol. 2006; 92(1):17-25. doi: 10.1016/j.pbiomolbio.2006.02.004. PMID: 16766240.
  • Holick MF. Vitamin D deficiency. N Engl J Med. 2007; 357(3):266-81. doi: 10.1056/NEJMra070553. PMID: 17634462.
  • 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. PMID: 18676559.
  • Holick MF. Vitamin D: importance in the prevention of cancers, type 1 diabetes, heart disease, and osteoporosis. Am J Clin Nutr. 2004; 79(3):362-71. doi: 10.1093/ajcn/79.3.362. Erratum in: Am J Clin Nutr. 2004; 79(5):890. PMID: 14985208.
  • Nield LS, Mahajan P, Joshi A, Kamat D. Rickets: not a disease of the past. Am Fam Physician. 2006; 74(4):619-26. PMID: 16939184.
  • Drezner MK. Rickets and osteomalacia. In: Goldman L, Ausiello DA, eds. Cecil Textbook of Medicine. 22nd ed. Philadelphia, Pa.: Saunders, 2004:1545.
  • Sahay M, Sahay R. Rickets-vitamin D deficiency and dependency. Indian J Endocrinol Metab. 2012; 16(2):164-76. doi: 10.4103/2230-8210.93732. PMID: 22470851; PMCID: PMC3313732.
  • Sahay M, Sahay R. Renal rickets-practical approach. Indian J Endocrinol Metab. 2013; 17(1):S35-44. doi: 10.4103/2230-8210.119503. PMID: 24251212; PMCID: PMC3830358.
  • Akila Devi V , Thangavelu S, Vijayakumar M. Renal Rickets – Pediatrician’s Perspective. Indian Journal of Practical Pediatrics 2017; 19(2):156
  • Lee JH, Park JH, Ha TS, Han HS. Refractory rickets caused by mild distal renal tubular acidosis. Ann Pediatr Endocrinol Metab. 2013; 18(3):152-5. doi: 10.6065/apem.2013.18.3.152. Epub 2013 Sep 30. PMID: 24904870; PMCID: PMC4027071.
  • Deal JE, Barratt TM, Dillon MJ. Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome. Pediatr Nephrol. 1990; 4(4):308-13. doi: 10.1007/BF00862505. PMID: 2206896.
  • Velásquez-Jones L, Medeiros-Domingo M. Hereditary hypophosphatemic rickets. Bol Med Hosp Infant Mex. 2013; 70:421-430.
  • Fraser D, Kooh SW, Kind HP, Holick MF, Tanaka Y, DeLuca HF. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med. 1973; 289(16):817-22. doi: 10.1056/NEJM197310182891601. PMID: 4357855.
  • Yan Y, Calikoglu AS, Jain N. Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy. J Child Neurol. 2011; 26(12):1571-5. doi: 10.1177/0883073811411190. Epub 2011 Jun 23. PMID: 21700898.
  • Kim CJ. Vitamin D dependent rickets type I. Korean J Pediatr. 2011; 54(2):51-4. doi: 10.3345/kjp.2011.54.2.51. Epub 2011 Feb 28. PMID: 21503197; PMCID: PMC3077501.
  • Thacher TD, Fischer PR, Pettifor JM. Vitamin D treatment in calcium-deficiency rickets: a randomised controlled trial. Arch Dis Child. 2014; 99(9):807-11. doi: 10.1136/archdischild-2013-305275. Epub 2014 Apr 19. PMID: 24748637; PMCID: PMC4145444.
  • Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010; 1192:190-200. doi: 10.1111/j.1749-6632.2010.05387.x. PMID: 20392236.
  • Baroncelli GI, Bertelloni S, Ceccarelli C, Amato V, Saggese G. Bone turnover in children with vitamin D deficiency rickets before and during treatment. Acta Paediatr. 2000; 89(5):513-8. doi: 10.1080/080352500750027763. PMID: 10852183.
  • Holick MF, Binkley NC, Bischoff-Ferrari HA, Gordon CM, Hanley DA, Heaney RP et al.; Endocrine Society. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2011; 96(7):1911-30. doi: 10.1210/jc.2011-0385. Epub 2011 Jun 6. Erratum in: J Clin Endocrinol Metab. 2011 Dec; 96(12):3908. PMID: 21646368.
  • Roth HJ, Schmidt-Gayk H, Weber H, Niederau C. Accuracy and clinical implications of seven 25-hydroxyvitamin D methods compared with liquid chromatography-tandem mass spectrometry as a reference. Ann Clin Biochem. 2008; 45(Pt 2):153-9. doi: 10.1258/acb.2007.007091. PMID: 18325178.
  • Laboratory Procedure Manual. 2015. Available from http://www.cdc.gov/nchs/data/nhanes/nhanes_05_06/VID_D_ met_Vitamin_D.pdf. Accessed November 15, 2020.
  • Munns CF, Shaw N, Kiely M, Specker BL, Thacher TD, Ozono K et al., Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. J Clin Endocrinol Metab. 2016; 101(2):394-415. doi: 10.1210/jc.2015-2175. Epub 2016 Jan 8. PMID: 26745253; PMCID: PMC4880117.
  • From Indian Academy of Pediatrics ‘Guideline for Vitamin D and Calcium in Children’ Committee., Khadilkar A, Khadilkar V, Chinnappa J, Rathi N, Khadgawat R, Balasubramanian S, Parekh B, Jog P. Prevention and Treatment of Vitamin D and Calcium Deficiency in Children and Adolescents: Indian Academy of Pediatrics (IAP) Guidelines. Indian Pediatr. 2017; 54(7):567-573. doi: 10.1007/s13312-017-1070-x. PMID: 28737142.
  • Hoppe B, Gnehm HE, Wopmann M, Neuhaus T, Willi U, Leumann E. Vitamin D poisoning in infants: a preventable cause of hypercalciuria and nephrocalcinosis. Schweiz Med Wochenschr. 1992; 122(8):257-62. German. PMID: 1311865.
  • Abrams SA; Committee on Nutrition. Calcium and vitamin d requirements of enterally fed preterm infants. Pediatrics. 2013; 131(5):e1676-83. doi: 10.1542/peds.2013-0420. Epub 2013 Apr 29. PMID: 23629620.
  • Elder CJ, Bishop NJ. Rickets. Lancet. 2014; 383(9929):1665-1676. doi: 10.1016/S0140-6736(13)61650-5. Epub 2014 Jan 10. PMID: 24412049.
  • Indian Council of Medical Research (ICMR), Nutrient Requirements and Recommended Dietary Allowances for Indians, a Report of the Expert Group of the Indian Council of Medical Research 2010. Hyderabad, India: National Institute of Nutrition; 2010.
  • Prakash J, Mehtani A, Sud A, Reddy BK. Is surgery always indicated in rachitic coronal knee deformities? Our experience in 198 knees. J Orthop Surg (Hong Kong). 2017; 25(1):2309499017693532. doi: 10.1177/2309499017693532. PMID: 28222650.