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Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets.

ABSTRACT: This review describes the pathogenesis, clinical presentation and biochemical perturbations found in privational (nutritional) rickets and pseudo-vitamin D deficiency rickets (PDDR), an autosomal recessive condition with loss of function mutations in CYP27B1. It may seem strange to combine a discussion on privational rickets and PDDR as a single topic, but privational rickets and PDDR present with similar clinical signs and symptoms and with similar perturbations in bone and mineral metabolism. Of interest is the characteristic lack of features of rickets at birth in infants with PDDR, a finding which has also been reported in infants born to vitamin D-deficient mothers. This highlights the independence of the fetus and neonate from the need for vitamin D to maintain calcium homeostasis during this period. The variable roles of vitamin D deficiency and dietary calcium deficiency in the pathogenesis of privational rickets are discussed and the associated alterations in vitamin D metabolism highlighted. Although PDDR is a rare autosomal recessive disorder, results of long-term follow-up are now available on the effect of treatment with calcitriol, and these are discussed. Areas of uncertainty, such as should affected mothers breastfeed their infants, are emphasized.

SUBMITTER: Glorieux FH

PROVIDER: S-EPMC4015456 | biostudies-other | 2014

REPOSITORIES: biostudies-other

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Vitamin D treatment in calcium-deficiency rickets: a randomised controlled trial.

Project description:To determine whether children with calcium-deficiency rickets have a better response to treatment with vitamin D and calcium than with calcium alone.Randomised controlled trial.Jos University Teaching Hospital, Jos, Nigeria.Nigerian children with active rickets treated with calcium carbonate as limestone (approximately 938 mg elemental calcium twice daily) were, in addition, randomised to receive either oral vitamin D2 50,000?IU (Ca+D, n=44) or placebo (Ca, n=28) monthly for 24?weeks.Achievement of a 10-point radiographic severity score ?1.5 and serum alkaline phosphatase ?350?U/L.The median (range) age of enrolled children was 46 (15-102) months, and baseline characteristics were similar in the two groups. Mean (±SD) 25-hydroxyvitamin D (25(OH)D) was 30.2±13.2?nmol/L at baseline, and 29 (43%) had values <30?nmol/L. Baseline alkaline phosphatase and radiographic scores were unrelated to vitamin D status. Of the 68 children (94% of original cohort) who completed 24?weeks of treatment, 29 (67%) in the Ca+D group and 11 (44%) in the Ca group achieved the primary outcome (p=0.06). Baseline 25(OH)D did not alter treatment group effects (p=0.99 for interaction). At the end of 24?weeks, 25(OH)D values were 55.4±17.0?nmol/L and 37.9±20.0?nmol/L in the Ca+D and Ca groups, respectively, (p<0.001). In the Ca+D and Ca groups, the final 25(OH)D concentration was greater in those who achieved the primary outcome (56.4±17.2?nmol/L) than in those who did not (37.7±18.5?nmol/L, p<0.001).In children with calcium-deficiency rickets, there is a trend for vitamin D to improve the response to treatment with calcium carbonate as limestone, independent of baseline 25(OH)D concentrations.ClinicalTrials.gov NCT00949832.

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