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.
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.
151 citations,
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.
