TLDR A specific gene mutation causes vitamin D-resistant rickets and hair loss.
The study investigated a young French-Canadian boy with hereditary vitamin D-resistant rickets (HVDRR) and total alopecia, identifying a unique C to T mutation in the vitamin D receptor (VDR) gene. This mutation resulted in a premature stop codon at amino acid 30, truncating the VDR and causing resistance to 1,25-dihydroxyvitamin D3. The patient's fibroblasts showed very low VDR protein levels and failed to induce gene transcription in response to 1,25(OH)2D3. The parents were found to be heterozygous for the mutation. The Arg30stop mutation was concluded to be the molecular basis of HVDRR in this patient.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
30 citations
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May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
6 citations
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November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
July 2023 in “Journal of medical and health studies” A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
