TLDR Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
The study described eight patients from four unrelated consanguineous Arab families who were diagnosed with hereditary vitamin D-resistant rickets (HVDRR), a rare disorder caused by inactivating mutations in the vitamin D receptor (VDR) gene. Despite all patients carrying the same c.885C>A (p.Y295*) loss of function mutation in the VDR gene and exhibiting the main features of HVDRR, there was clinical heterogeneity in their symptoms and developmental milestones. Over a period of up to 11 years, the patients were treated and monitored, resulting in the improvement of all clinical symptoms except for alopecia. The study emphasizes the importance of VDR sequencing and laboratory tests for confirming HVDRR diagnosis and for evaluating the effectiveness of treatment.
25 citations,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
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,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
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.
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.
277 citations,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
36 citations,
February 2007 in “Journal of biological chemistry/The Journal of biological chemistry” The vitamin D receptor can work without its usual activating molecule.
134 citations,
December 2018 in “Dermatology and Therapy” Some vitamins and minerals like vitamin D and iron can help with certain types of hair loss, but more research is needed for others.
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.
