The clinical presentation and biochemical features of stage I vitamin D-deficiency rickets (VDR) and pseudohypoparathyroidism (PHP) type II are quite similar. These 2 entities have therefore often been mistaken for one another. We report our experience with 2 cases of stage I VDR that were originally diagnosed as PHP type II. The report provides an insight into the pathophysiology of VDR and PHP and thus allows for better differentiation between the 2 disease entities. It has become essential for pediatricians to recognize VDR owing to its resurgence in developed countries.
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References
1.
1. Kreiter SR, Schwartz RP, Kirkman HN Jr, et al. Nutritional rickets in African American breast-fed infants. J Pediatr2000;137:153-157.
2.
2. Haworth JC, Dilling LA. Vitamin-Ddeficient rickets in Manitoba, 1972-84. Can Med Assoc J. 1986;134:237-241.
3.
3. Fraser D, Kooh SW, Scriver CR. Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Pediatr Res.1967;1:425-435.
4.
4. Spiegel AM, Weinstein LS. Pseudohypoparathyroidism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed.New York: McGraw-Hill, Inc.; 2001:4205-4222.
5.
5. Dabbagh S, Chesney RW, Langer LO, et al. Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. A case with normal vitamin D metabolite levels and clinical features of rickets. Am JDis Child. 1984;138:1030-1033.
6.
6. Wilson JD, Hadden DR. Pseudohypoparathyroidism presenting with rickets. J Clin Endocrinol Metab. 1980;51:1184-1189.
7.
7. Robinson D, Flynn D, Dandona P. Hyperphosphataemic rickets in an Asian infant. Br Med J (Clin Res Ed).1985;290:1318-1319.
8.
8. Betend B, David L, Evrard A, et al. A patient with nutritional rickets stage 1 or partial hypoparathyroidism. Acta Paediatr Scand. 1981;70:259-260.
9.
9. Bonnici F. Functional hypoparathyroidism in infantile hypocalcaemic stage I vitamin D deficiency rickets. SAfr Med J1978;54:611-612.
10.
10. Kruse K. Pathophysiology of calcium metabolism in children with vitamin D-deficiency rickets. J Pediatr.1995;126:736-741.
11.
11. Kruse K, Bartels H, Kracht U. Parathyroid function in different stages of vitamin D deficiency rickets. Eur J Pediatr.1984;141:158-162.
12.
12. Harrison HE, Harrison HC. Hypocalcemic states. In: Schaffer AJ, Markowitz M, eds. Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence. Volume XX in Major Problems in Clinical Pediatrics. Philadelphia: WB Saunders Company; 1979:47-99.
13.
13. Lewin IG, Papapoulos SE, Hendy GN, et al. Reversible resistance to the renal action of parathyroid hormone in human vitamin D deficiency. Clin Sci.1982;62:381-387.
14.
14. Rao DS, Parfitt AM, Kleerekoper M, et al. Dissociation between the effects of endogenous parathyroid hormone on adenosine 3′,5′-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an acquired disorder resembling pseudohypoparathyroidism type II. J Clin Endocrinol Metab.1985;61:285-290.
15.
15. Mallette LE, Gagel RF. Parathyroid hormone and calcitonin. In: Favus MJ, ed. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 2nd ed.New York: Raven Press; 1993:90-99.