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Article

Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2024

Ahmad Noman, Ansari Sundus A, Aleysae Nabil A, Heaphy Emily L G, Sobaihi Mrouge M, Alghamdi Balgees A, Alzahrani Ali S

Abstract excerpt

INTRODUCTION: Hereditary vitamin D resistant rickets (HVDRR) is a rare autosomal recessive disorder marked by end-organ resistance of 1,25-dihydroxyvitamin D secondary to various mutations in the vitamin D receptor gene. The currently accepted treatment modality involves bypassing the affected receptors in the gut with high-dose intravenous calcium. In a few limited case reports, cinacalcet, a calcimimetic, has...

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Identifiers

PMID: 39026484
DOI: 10.5114/pedm.2024.139367
PMCID: PMC11249798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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