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    Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation

    Elvan Bayramoğlu, Şenay Savaş Erdeve, Yufei Shi … Zehra Aycan
    Studysummary In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 4

    1. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016
    2. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    3. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010
    4. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From a Novel Missense Mutation in the DNA-Binding Domain of the Vitamin D Receptor Molecular Genetics and Metabolism · 2009