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Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets
A E Hanna1, S Sanjad2, R Andary3
11 Division of Orthodontics and Dentofacial Orthopedics, Department of Otolaryngology and Head and Neck Surgery, American University of Beirut Medical Center, Beirut, Lebanon.
JDR Clinical and Translational Research
|April 3, 2019
Summary
Hereditary vitamin D-resistant rickets (HVDRR) is linked to VDR gene mutations. Dental development indicates treatment response, with mutation type influencing outcomes and tooth abnormalities.
Area of Science:
- Genetics
- Endocrinology
- Pediatric Dentistry
Background:
- Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder stemming from vitamin D receptor (VDR) gene mutations.
- HVDRR presents with hypocalcemia, elevated vitamin D levels, growth issues, hair loss, and significant dental anomalies.
Observation:
- This study analyzed dental development in four children with HVDRR, correlating it with VDR mutation type and treatment response.
- Dental records and genetic profiles were assessed longitudinally in relation to treatment with high-dose vitamin D and calcium.
Findings:
- Treatment success varied with mutation location; p.R391S mutations showed positive outcomes, while p.H397P mutations did not respond well.
- Primary teeth were often missing or lost early. Hypoplastic enamel in permanent teeth correlated with delayed treatment initiation.
Implications:
- VDR mutation type influences HVDRR phenotype and treatment efficacy.
- Dental development serves as a key indicator of disease progression and treatment effectiveness in HVDRR.
- Early diagnosis and intervention are crucial for managing dental abnormalities and improving outcomes in HVDRR patients.
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