Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment, and Adjunctive Cinacalcet Therapy

    January 2024 in “ Pediatric Endocrinology Diabetes and Metabolism ”
    Noman Ahmad, Sundus A. Ansari, Nabil Abdulrahman Aleysae … Ali S. Alzahrani
    Studysummary In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
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    Research cited in this study 6

    1. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism · 2018
    2. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings International journal of endocrinology and metabolism/International journal of endocrinology and metabolism. · 2017
    3. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016
    4. Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets BoneKEy Reports · 2014
    5. Hereditary Vitamin D Rickets: A Case Series in a Family Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism · 2014
    6. Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor Journal of Bone and Mineral Research · 2011