Hande KURTULGAN KÜÇÜK, Malik Ejder YILDIRIM, Ali ŞAHİN

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

D vitamini eksikliği kemik mineralizasyon bozukluğu ile birlikte bazı kemik ve kas hastalıkları ilesonuçlanabilir. D vitamini aktivitesi için vitamin D reseptör (VDR) geninin expresyonu önemlidirve bu genin bazı genetik varyasyonları tanımlanmıştır. Burada D vitamini eksikliği ile birlikteyüksek kreatin kinaz ve kas güçsüzlüğü olan bir bayan hasta incelenmiştir.Aile bireylerinde deosteoporoz olan vakanın, annesi ve ablasında da osteoporoz mevcuttu. Hastamızdaki semptomlarınnedeni düşük D vitamini düzeyleri idi ve VDR gen polimorfizminin (Bsml varyantı) BBhomozigot olduğu saptandı. Anne ve ablasında da BB genotipi saptanan hastanın semptomları (kasgüçsüzlüğü, kas ağrısı, yorgunluk) D vitamini replasman tedavisinden sonra düzeldi.Çalışmamızhastanın vitamin D düzeyinin VDR genotipi ile uyumlu olduğunu göstermektedir.

Genç bayan hastada D vitamini eksikliği, miyopati ve VDR gen polimorfizmi

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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