Abstract
SUMMARY
Vitamin D deficiency can result in impaired bone mineralization and some types of bone and muscle diseases. The expression of the vitamin D receptor (VDR) gene is important for vitamin D activity and some genetic variations have been identified. In this report we examined a young woman who had a vitamin D deficiency which leads to high creatinine kinase levels and muscle weakness. Her family members also had vitamin D deficiency and her mother and her elder sister had osteoporosis. The cause of our patient’s symptoms was low vitamin D level and her VDR gene polymorphism (BsmI variant) was BB homozygous. Her mother and her sister also had BB genotype. The symptoms of the patient (muscle weakness, muscle pain, fatigue) improved after vitamin D replacement therapy. Our study suggest that the VDR genotype of our patient was consistent with her level of vitamin D.
Keywords: myopathy, polymorphism, VDR gene, vitamin D
ÖZET
D vitamini eksikliği kemik mineralizasyon bozukluğu ile birlikte bazı kemik ve kas hastalıkları ile sonuçlanabilir. D vitamini aktivitesi için vitamin D reseptör (VDR) geninin expresyonu önemlidir ve bu genin bazı genetik varyasyonları tanımlanmıştır. Burada D vitamini eksikliği ile birlikte yüksek kreatin kinaz ve kas güçsüzlüğü olan bir bayan hasta incelenmiştir.Aile bireylerinde de osteoporoz olan vakanın, annesi ve ablasında da osteoporoz mevcuttu. Hastamızdaki semptomların nedeni düşük D vitamini düzeyleri idi ve VDR gen polimorfizminin (Bsml varyantı) BB homozigot olduğu saptandı. Anne ve ablasında da BB genotipi saptanan hastanın semptomları (kas güçsüzlüğü, kas ağrısı, yorgunluk) D vitamini replasman tedavisinden sonra düzeldi.Çalışmamız hastanın vitamin D düzeyinin VDR genotipi ile uyumlu olduğunu göstermektedir.
Keywords
References
- Holick MF, Binkley NC, Bischoff- Ferrari HA. Evaluation, Treatment, and Prevention of Vitamin D Defi- ciency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2011; 96: 1911- 30.
- Bordelon P, Ghetu MV, Langan RC. Recognition and Management of Vitamin D Deficiency. Am Fam Physician 2009; 80: 841-6.
- Wang TJ, Pencina MJ, Booth SL. Vitamin D deficiency and risk of cardiovascular disease. Circulation 2008; 117: 503-11.
- Peterlik M, Cross HS. Vitamin D and calcium deficits predispose for multiple chronic diseases. Eur J Clin Invest 2005; 35:290-304.
- Holick MF. Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease. Am J Clin Nutr 2004; 80: 1678-88.
- Peterlik M, Cross HS. Dysfunction of the vitamin D endocrine system as common cause for multiple ma- lignant and other chronic diseases. Anticancer Res 2006; 26: 2581-8.
- Köstner K, Denzer N, Müller CS, Klein R, Tilgen W, Reichrath J. The relevance of vitamin D recep- tor (VDR) gene polymorphisms for cancer: a review of the litera- ture. Anticancer Res 2009; 29: 3511-36.
- Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, van Leeuwen JP. Genetics and biology of vita- min D receptor polymorphisms. Gene 2004; 338: 143-56.
- Prabhakar P, Christopher R, Naga- raja D. Vitamin D Receptor (VDR) gene polymorphism and risk of is- chemic stroke. Mol Cytogenet 2014; 7: 33.
- Valdivielso JM, Fernandez E. Vit- amin D receptor polymorphisms and diseases. Clin Chim Acta 2006; 371: 1-12.
- Thakkinstian A, D’Este C, Attia J. Haplotype analysis of VDR gene polymorphisms: A meta-analysis. Osteoporosis Int 2004; 15: 729-34.
- Morrison NA, Yeoman R, Kelly PJ. Eisman JA. Contribution of trans-acting factor alleles to nor- mal physiological variability: Vit- amin D receptor gene polymor- phisms and circulating osteocalcin, Proc. Natl. Acad. Sci. U.S.A 1992; 89: 6665-9.
- Morrison NA, Qi JJC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA. Predic- tion of bone density from Vitamin D receptor alleles. Nature 1994; 367: 284-7.
- Kiel DP, Myers RH, Cupples LA. The BsmI vitamin D receptor re- striction fragment length polymor- phism (bb) influences the effect of calcium intake on bone mineral density. J Bone Miner Res 1997; 12: 1049-57.
Abstract
D vitamini eksikliği kemik mineralizasyon bozukluğu ile birlikte bazı kemik ve kas hastalıkları ile sonuçlanabilir. D vitamini aktivitesi için vitamin D reseptör (VDR) geninin expresyonu önemlidir ve bu genin bazı genetik varyasyonları tanımlanmıştır. Burada D vitamini eksikliği ile birlikte yüksek kreatin kinaz ve kas güçsüzlüğü olan bir bayan hasta incelenmiştir.Aile bireylerinde de osteoporoz olan vakanın, annesi ve ablasında da osteoporoz mevcuttu. Hastamızdaki semptomların nedeni düşük D vitamini düzeyleri idi ve VDR gen polimorfizminin (Bsml varyantı) BB homozigot olduğu saptandı. Anne ve ablasında da BB genotipi saptanan hastanın semptomları (kas güçsüzlüğü, kas ağrısı, yorgunluk) D vitamini replasman tedavisinden sonra düzeldi.Çalışmamız hastanın vitamin D düzeyinin VDR genotipi ile uyumlu olduğunu göstermektedir
Keywords
References
- Holick MF, Binkley NC, Bischoff- Ferrari HA. Evaluation, Treatment, and Prevention of Vitamin D Defi- ciency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2011; 96: 1911- 30.
- Bordelon P, Ghetu MV, Langan RC. Recognition and Management of Vitamin D Deficiency. Am Fam Physician 2009; 80: 841-6.
- Wang TJ, Pencina MJ, Booth SL. Vitamin D deficiency and risk of cardiovascular disease. Circulation 2008; 117: 503-11.
- Peterlik M, Cross HS. Vitamin D and calcium deficits predispose for multiple chronic diseases. Eur J Clin Invest 2005; 35:290-304.
- Holick MF. Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease. Am J Clin Nutr 2004; 80: 1678-88.
- Peterlik M, Cross HS. Dysfunction of the vitamin D endocrine system as common cause for multiple ma- lignant and other chronic diseases. Anticancer Res 2006; 26: 2581-8.
- Köstner K, Denzer N, Müller CS, Klein R, Tilgen W, Reichrath J. The relevance of vitamin D recep- tor (VDR) gene polymorphisms for cancer: a review of the litera- ture. Anticancer Res 2009; 29: 3511-36.
- Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, van Leeuwen JP. Genetics and biology of vita- min D receptor polymorphisms. Gene 2004; 338: 143-56.
- Prabhakar P, Christopher R, Naga- raja D. Vitamin D Receptor (VDR) gene polymorphism and risk of is- chemic stroke. Mol Cytogenet 2014; 7: 33.
- Valdivielso JM, Fernandez E. Vit- amin D receptor polymorphisms and diseases. Clin Chim Acta 2006; 371: 1-12.
- Thakkinstian A, D’Este C, Attia J. Haplotype analysis of VDR gene polymorphisms: A meta-analysis. Osteoporosis Int 2004; 15: 729-34.
- Morrison NA, Yeoman R, Kelly PJ. Eisman JA. Contribution of trans-acting factor alleles to nor- mal physiological variability: Vit- amin D receptor gene polymor- phisms and circulating osteocalcin, Proc. Natl. Acad. Sci. U.S.A 1992; 89: 6665-9.
- Morrison NA, Qi JJC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA. Predic- tion of bone density from Vitamin D receptor alleles. Nature 1994; 367: 284-7.
- Kiel DP, Myers RH, Cupples LA. The BsmI vitamin D receptor re- striction fragment length polymor- phism (bb) influences the effect of calcium intake on bone mineral density. J Bone Miner Res 1997; 12: 1049-57.
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Reports |
| Authors | |
| Publication Date | July 1, 2015 |
| Published in Issue | Year 2015Volume: 37 Issue: 2 |