Problem:Hereditary Vitamin D Resistant Rickets, Cure: Vitamin D?

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ProblemHereditary Vitamin D Resistant Rickets,
Cure Vitamin D?
HVDRR

• Rahim Harris
• Endocrinology
• Prof Dr. Lin
• 4/26/00

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Introduction

• Hereditary Vitamin D Resistance Rickets (HVDRR)
• Main Characteristics
• Hypocalcemia
• Rickets
• Results in
• Bone pain
• Muscle weakness
• Hypotonia
• Alopecia

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Topics of Discussion

• Vitamin D
• Vitamin D receptor
• Questions of concern
• Case study
• Results
• Conclusion

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Vitamin D

• Physiology
• Metabolism

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Vitamin D Receptor

• Location
• Gene mutation

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Questions of concern

• Is there a total or partial resistance?
• Can excessive amounts of vitamin D help?
• How much Vitamin D will do the job?

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Case Study

• Turkish family
• 2 year old male with rickets(HVDRR)
• sister(HVDRR)
• mother
• father
• Results

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Serum Calcium NR(8.5-10.4)
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25(OH)2D3 NR(7-60)
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1,25(OH)2D3 NR(20-80)
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PTH NR(3-40)
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Osteocalcin NR(11-43)
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Scatchard Plot (Bound/Free)
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Conclusion

• Rickets cured but low bound/free ratio
• Future experiments