Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

    December 2016 in “ Hormone Research in Paediatrics ”
    S. Ben Ameur, Caroline Silve, I. Chabchoub … M. Hachicha
    Studysummary This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
    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
    Read the full study on karger.com →
    Discuss this study in the Community →

    Research cited in this study 7

    1. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015
    2. A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses Bone · 2014
    3. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia in Four Egyptian Families: Report of Three Novel Mutations in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2014
    4. Hereditary Vitamin D Rickets: A Case Series in a Family Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism · 2014
    5. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    6. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010
    7. A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling Hormone Research in Paediatrics · 2006