A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses

September 2014 in “ Bone ”

Bram C. J. van der Eerden, Josine C. van der Heyden, Jan Piet van Hamburg, Marijke Schreuders‐Koedam, Patrick S. Asmawidjaja, S M de Muinck Keizer-Schrama, Annemieke M. Boot, Erik Lubberts, Stenvert L. S. Drop, Johannes P.T.M. van Leeuwen

vitamin D receptor Hereditary Vitamin D Resistant Rickets HVDRR 1,25-dihydroxyvitamin D alopecia 1,25-(OH)2D3 VDR rickets vitamin D

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.

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Research cited in this study

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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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Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

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