The Indian Journal of Pediatrics

, Volume 80, Issue 7, pp 565–569 | Cite as

Clinical and Etiological Profile of Refractory Rickets from Western India

Original Article
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Abstract

Objective

To present clinical and etiological profile of refractory rickets from Mumbai.

Methods

Case records of 36 patients presenting over 2½ y with refractory rickets were evaluated with respect to clinical presentation, biochemical, radiological features and where needed, ophthalmological examination, ultrasonography and special tests on blood and urine.

Results

Twenty three (63 %) patients had renal tubular acidosis (RTA)—distal RTA in 20 and proximal RTA in 3 patients; 5 (14 %) had vitamin D dependent rickets (VDDR I in 2 and VDDR II in 3 patients), 4 (11 %) had chronic renal failure (CRF) and 2 each (6 %) had hypophosphatemic rickets and chronic liver disease as cause of refractory rickets. A significant proportion of patients with RTA and VDDR showed skeletal changes of rickets in the first 2 y of life, while those with hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs, normal blood calcium and PTH levels and phosphorus leak in urine. All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % patients. Three (75 %) patients with rickets due to CRF had GFR < 30 ml/min/1.73 m2 and hyperphosphatemia. Patients with cirrhosis due to biliary atresia had rickets inspite of taking high dose of vitamin D orally.

Conclusions

Refractory rickets is a disorder of multiple etiologies; a good history and clinical examination supplemented with appropriate investigations helps to determine its cause.

Keywords

Refractory Rickets Vitamin D Hypophosphatemia RTA 

References

  1. 1.
    Grzanka K, Kucharz EJ. Vitamin D-resistant rickets. Wiad Lek. 2004;57:663–71.PubMedGoogle Scholar
  2. 2.
    Gulati A, Paul V. Vitamin D. In: Ghai OP, Paul VK, Bagga A, eds. Essential pediatrics. 7th ed. New Delhi: CBS Publishers; 2010. pp. 80–4.Google Scholar
  3. 3.
    Zargar AH, Laway BA, Masoodi SR, et al. Hereditary hypophosphatemic rickets: report of a family from the Indian subcontinent. Postgrad Med J. 1999;75:485–7.PubMedGoogle Scholar
  4. 4.
    Beck-Nielsen SS, Brock-Jacobson B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and heriditary rickets in Southern Denmark. Eur J Endocrinol. 2009;160:491–7.PubMedCrossRefGoogle Scholar
  5. 5.
    Adedoyin O, Gottlieb B, Frank R, et al. Evaluation of failure to thrive: diagnostic yields of testing for renal tubular acidosis. Pediatrics. 2003;112:e 463.CrossRefGoogle Scholar
  6. 6.
    Sreedharan R, Avner ED. Renal tubular acidosis. In: Kliegman RM, Stanton BF, Joseph W, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: Saunders; 2012. pp. 1808–11.Google Scholar
  7. 7.
    Brenner RJ, Spring DB, Sebastian A, et al. Incidence of radiographically evident bone disease, nephrocalcinosis and nephrolithiasis in various types of renal tubular acidosis. N Engl J Med. 1982;307:217–21.PubMedCrossRefGoogle Scholar
  8. 8.
    Chesney RW, Kaplan BS, Phelps M, DeLuca HF. Renal tubular acidosis does not alter circulating values of calcitriol. J Pediatr. 1984;104:51–5.PubMedCrossRefGoogle Scholar
  9. 9.
    Cunnhingham J, Fraher LJ, Revell PA, Papappoulos SE. Chronic acidosis with metabolic bone disease—effect of alkali on bone morphology and vitamin D metabolism. Am J Med. 1982;73:199–204.CrossRefGoogle Scholar
  10. 10.
    Caldis A, Broyer M, Dechaux M, Klienknect C. Primary distal tubular acidosis in childhood: clinical study and long term follow up of 28 patients. J Pediatr. 1992;121:233–41.CrossRefGoogle Scholar
  11. 11.
    Disthabanchong S, Radinahamed P, Stitchantrakul W, Hongeng S, Rajatanavin R. Chronic metabolic acidosis alters osteoblast differentiation from human mesenchymal stem cells. Kidney Int. 2007;71:201–9.PubMedCrossRefGoogle Scholar
  12. 12.
    Paszkowska M, Niemir ZI, Chudek J, Czekalski S. Hypercalciuria with severe hypocalcemia in association with distal renal tubular acidosis—case report and differential diagnostics. Pol Arch Med Wewn. 2004;111:715–9.PubMedGoogle Scholar
  13. 13.
    Tsau YK, Chen CH, Tsai WS, Chiou YM. Renal tubular acidosis in childhood. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990;31:205–13.PubMedGoogle Scholar
  14. 14.
    Sweid HA, Bagga A, Vaswani M, Vasudev V, Ahuja RK, Srivastava RN. Urinary excretion of minerals, oxalate and uric acid in north Indian children. Pediatr Nephrol. 1997;11:189–92.PubMedCrossRefGoogle Scholar
  15. 15.
    Bajpai A, Bagga A, Hari P, Bardia A, Mantan M. Long-term outcome in children with primary distal renal tubular acidosis. Indian Pediatr. 2005;42:321–8.PubMedGoogle Scholar
  16. 16.
    Cherqui S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 2012;81:127–9.PubMedCrossRefGoogle Scholar
  17. 17.
    Thomas MK, Deamy MB. Vitamin D deficiency and disorders of vitamin D metabolism. Endocrinol Metab Clin N Am. 2000;29:611–27.CrossRefGoogle Scholar
  18. 18.
    Kim CJ. Vitamin D, dependent rickets type 1. Korean J Pediatr. 2011;54:51–4.PubMedCrossRefGoogle Scholar
  19. 19.
    Hochberg Z. Vitamin-D-dependent rickets type 2. Horm Res. 2002;58:297–302.PubMedCrossRefGoogle Scholar
  20. 20.
    Santos R, Neves S, Gomes C, Neves F, Correia AJ. Rickets vitamin-D-dependent type 2. Acta Med Port. 2009;22:861–6.PubMedGoogle Scholar
  21. 21.
    Bagga A, Sinha A. Refractory rickets. In: Shrivastava RN, Bagga A, eds. Pediatric nephrology. 5th ed. New Delhi: Jaypee Brothers Medical Publishers; 2011. pp. 324–36.CrossRefGoogle Scholar
  22. 22.
    Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y. A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res. 2005;58:329–33.PubMedCrossRefGoogle Scholar
  23. 23.
    Goodver PR, Kronick JB, Jequier S, Reade TM, Scriver CR. Nephrocalcinosis and its relationship to treatment of hereditary rickets. J Pediatr. 1987;111:700–4.CrossRefGoogle Scholar
  24. 24.
    Wesseling C, Bakkaloglu S, Salusky I. Chronic kidney disease mineral and bone disorder in children. Pediatr Nephrol. 2008;23:195–207.PubMedCrossRefGoogle Scholar
  25. 25.
    Kobayashi A, Kawai S, Utsunomiya T, Ohbe Y. Bone disease in infants and children with hepatobiliary disease. Arch Dis Child. 1974;49:641–6.PubMedCrossRefGoogle Scholar
  26. 26.
    Compston JE. Hepatic osteodystrophy: vitamin D metabolism in patients with liver disease. Gut. 1986;27:1073–90.PubMedCrossRefGoogle Scholar
  27. 27.
    Taveira AT, Pereira FA, Fernandes MI, Sawamura R, Nogueira-Barbosa MH, Paula FJ. Longitudinal evaluation of hepatic osteodystrophy in children and adolescents with chronic cholestatic liver disease. Braz J Med Biol Res. 2010;43:1127–34.PubMedCrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2012

Authors and Affiliations

  1. 1.Department of PediatricsB.J. Wadia Hospital for ChildrenMumbaiIndia
  2. 2.MumbaiIndia

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