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Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis
Øivind Torkildsen1, Per Morten Knappskog, Harald I Nyland
1Department of Clinical Medicine, University of Bergen, Bergen, Norway. oivind.torkildsen@gmail.com
Archives of Neurology
|June 11, 2008
Summary
Vitamin D-dependent rickets type I (VDDR I), a rare genetic disorder, was found in three patients who later developed multiple sclerosis (MS). This suggests a potential link between VDDR I and MS risk.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Vitamin D-dependent rickets type I (VDDR I) is a rare inherited disorder caused by CYP27B1 mutations.
- Vitamin D is increasingly recognized as a factor in multiple sclerosis (MS) susceptibility.
- No prior studies explored the association between hereditary rickets and MS.
Observation:
- Three patients across two families presented with both VDDR I and MS.
- Genetic testing confirmed VDDR I in all three patients.
- Magnetic resonance imaging supported long-standing MS diagnoses in two patients.
Findings:
- This case study identified a co-occurrence of VDDR I and MS in three individuals.
- All patients had genetically confirmed VDDR I and met diagnostic criteria for MS.
- The findings suggest a potential association between VDDR I and MS development.
Implications:
- VDDR I may be a risk factor for developing MS.
- Other hereditary rickets mutations affecting vitamin D metabolism could also influence MS risk.
- Further research is warranted to explore the relationship between genetic rickets subtypes and MS.
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