Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes

January 2017 in “ Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism ”

Rabih R. Andary, Ahmad Sleiman, Theresa Farhat, Sami A. Sanjad, Georges Nemer

hereditary vitamin D-resistant rickets HVDRR alopecia p.R391S mutation p.H397P mutation vitamin D receptor VDR gene Sanger sequencing rachitic bone disease alfacalcidol 1-α-hydroxy vitamin D3 vitamin D-resistant rickets hair loss vitamin D receptor gene gene sequencing bone disease vitamin D3

Studysummary This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

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