TLDR Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
The study investigated dental development in children with hereditary vitamin D–resistant rickets (HVDRR) linked to mutations in the vitamin D receptor (VDR) gene. Four children aged 2 years 2 months to 6 years 8 months were analyzed, revealing that the mutation type influenced treatment outcomes. The p.R391S mutation led to a favorable response to high doses of vitamin D and calcium, although alopecia totalis persisted, while the p.H397P mutation showed no response despite normal hair. Dental issues included missing or mobile primary incisors and hypoplastic enamel, with posterior teeth erupting post-treatment. The study highlighted the importance of early mutation detection for predicting treatment response and emphasized the relationship between dental development and blood calcium levels, advocating for early diagnosis and treatment to prevent primary tooth loss and structural abnormalities in permanent teeth.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
55 citations
,
May 1985 in “Archives of Dermatology” Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
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.
11 citations
,
January 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
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.
