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, Fatma Damak, Fatma Kamoun, Aurélie Toussaint, S. Kmiha, L. Sfaihi, I. Mâaloul, Thouraya Kamoun, Hajer Aloulou, M. Hachicha

alopecia vitamin D-resistant rickets VDR gene p.K45E mutation p.T415R mutation p.E143del CYP24A1 mutation intermittent intravenous calcium

TLDR Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

The study focused on hereditary vitamin D-resistant rickets (HVDRR) in Tunisian children, involving 8 patients from 7 families. Alopecia was observed in 7 of these patients. Genetic analysis revealed two different homozygous mutations in the vitamin D receptor (VDR) gene: the p.K45E mutation in the DNA-binding domain, found in 5 patients with alopecia, and a novel p.T415R mutation in the ligand-binding domain. Additionally, a p.E143del CYP24A1 mutation was identified in 2 brothers with the p.K45E VDR mutation. Treatment with intermittent intravenous calcium showed improvement in 5 out of 6 treated patients. This study was significant as it was the first major series on HVDRR in Tunisia and expanded the known mutation spectrum with a novel VDR mutation.

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