Nutritional rickets: Vitamin D, calcium, and the genetic make-up

Mohamed El Kholy, Heba Elsedfy, Monica Fernández-Cancio, Rasha Tarif Hamza, Nermine Hussein Amr, Alaa Youssef Ahmed, Nadin Nabil Toaima, Laura Audí

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    1 Citation (Scopus)


    © 2017 International Pediatric Research Foundation, Inc. Background:The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role.Methods:Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing. Therapy was stratified in three different protocols. Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were genotyped and their association with clinical and biochemcial data was analyzed.Results:Therapy response was similar in terms of radiological healing although it was not so in terms of biochemical normalization. Only VDR gene (promoter, start-codon, and intronic genotypes) was rickets-associated in terms of serum 25-OH-D, calcium, radiological severity and time needed to heal. Eight patients with sufficient calcium intake and 25-OH-D levels carried a VDR genotype lacking minor allele homozygous genotypes at SNPs spread along the gene.Conclusion:Although patients presented epidemiologic factors strongly contributing to rickets, genetic modulation affecting predisposition, severity, and clinical course is exerted, at least in part, by VDR gene polymorphic variation.
    Original languageEnglish
    Pages (from-to)356-363
    JournalPediatric Research
    Issue number2
    Publication statusPublished - 1 Feb 2017


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