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, Emily L. G. Heaphy, Mrouge Mohamed Sobaihi, Balgees Alghamdi, Ali S. Alzahrani

hereditary vitamin D resistant rickets alopecia secondary hyperparathyroidism vitamin D receptor gene cinacalcet calcimimetic serum PTH levels

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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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

research 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

6 citations , June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings

5 citations , July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.”

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

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

8 citations , December 2016 in “Hormone Research in Paediatrics”

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.

research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets

107 citations , March 2014 in “BoneKEy Reports”

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

research Hereditary Vitamin D Rickets: A Case Series in a Family

6 citations , January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

research Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor

37 citations , August 2011 in “Journal of Bone and Mineral Research”

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.