Yıldırım, Malik Ejder Cumhuriyet University - School of Medicine - Department Of Medical Genetics, Turkey , Kurtulgan, Hande Küçük Cumhuriyet University - School of Medicine - Department Of Medical Genetics, Turkey , Şahin, Ali Cumhuriyet University - School of Medicine - Department Of Internal Medicine, the Science of Rheumatology, Turkey

Vitamin D deficiency, myopathy and VDR gene polymorphism in a young woman

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Vitamin D deficiency can result in impaired bone mineralization and some types of bone andmuscle diseases. The expression of the vitamin D receptor (VDR) gene is important for vitamin Dactivity and some genetic variations have been identified. In this report we examined a youngwoman who had a vitamin D deficiency which leads to high creatinine kinase levels and muscleweakness. Her family members also had vitamin D deficiency and her mother and her elder sisterhad osteoporosis. The cause of our patient’s symptoms was low vitamin D level and her VDRgene polymorphism (BsmI variant) was BB homozygous. Her mother and her sister also had BBgenotype. The symptoms of the patient (muscle weakness, muscle pain, fatigue) improved aftervitamin D replacement therapy. Our study suggest that the VDR genotype of our patient wasconsistent with her level of vitamin D.

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myopathy , polymorphism , VDR gene , vitamin D

Cumhuriyet Medical Journal

166