TLDR A vitamin D receptor mutation causes rickets and affects immune responses.
The study characterized two siblings with Hereditary Vitamin D Resistant Rickets (HVDRR) due to a homozygous mutation in the DNA binding domain of the vitamin D receptor (VDR), leading to resistance to 1,25-dihydroxyvitamin D. Despite severe rickets, alopecia, and elevated serum levels of 1,25-(OH)2D3, the siblings showed no history of chronic inflammatory diseases, questioning the essential role of vitamin D in the immune system. The boy recovered from rickets by age 17 without medication, but close monitoring for potential recurrence of vitamin D dependency or inflammation was recommended.
29 citations,
January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
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6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
25 citations,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
24 citations,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
