Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta

Mustafa Törehan Aslan; Erdal Eren; Halil Sağlam; Ömer Tarım

doi:10.4274/jcp.26234

Osteogenezis İmperfekta Tanısı Alan Hastaların Retrospektif Olarak Değerlendirilmesi

Year 2017, Volume: 15 Issue: 1, 1 - 5, 01.04.2017

Mustafa Törehan Aslan Erdal Eren Halil Sağlam Ömer Tarım

https://doi.org/10.4274/jcp.26234

Abstract

Giriş: Osteogenezis imperfekta Oİ tekrarlayan kemik kırıklarının yaşam kalitesini bozduğu kalıtsal bir hastalıktır. Çalışmamızın amacı Oİ tanısı almış hastalarının retrospektif değerlendirilip, Oİ’de yeni belirlenebilecek tanı ve tedavi protokollerine yardımcı olabilecek veriler sağlayabilmektir. Gereç ve Yöntem: Kliniğimizde Oİ tanısı ile takip edilen 28 olgu retrospektif olarak değerlendirildi. Oİ’nin klinik sınıflandırması yapıldı. Yaş, cinsiyet ve oksolojik veriler değerlendirildi. Boy, kilo ve vücut kitle indeksi VKİ verileri standart sapma skoru SSS olarak verildi. Ailede kırık öyküsü ve akraba evliliği araştırıldı. Fizik muayenede, mavi sklera ve deformite varlığı değerlendirildi. Bulgular: Çalışmaya alınan 28 olgumuzun 14’ü erkek %50 , 14’ü kız %50 , ortalama yaş 7,48±5,09 yıl idi. Olguların ortalama tanı yaşı ise 25,59±39,59 ay idi. On olguda %47,6 ailesinde başka bireylerde de Oİ tanı öyküsü, yedi olguda %25 ise akraba evliliği öyküsü vardı. Olgular Sillence sınıflamasına göre otozomal dominant geçen dört klinik tipe ayrıldığında; 13 olgu %46,4 tip 1, 10 olgu %35,7 tip 3, 5 olgu %17,9 tip 4 olarak sınıflandırıldı. Olguların tedavi sonrası ortalama bazal çift X ışınlı absorpsiyometri Z skoru, ortalama boy SSS’si, ortalama ağırlık SSS’si ve VKİ SSS’si anlamlı olarak yükseldi p

Keywords

Osteogenezis imperfekta, pamidronat, dual X ışınlı absorpsiyometri

References

1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.
2. Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord 2008;9:153-60.
3. Yamashita S. [Bisphosphonates and other new therapeutic agents for the treatmednt of osteogenesis imperfecta]. Clin Calcium 2009;19:253-7.
4. Kuczmarski RJ, Ogden CL, Guo SS, et al. 2000 CDC Growth Charts for the United States: methods and development. Vital Health Stat 11 2002:1-190.
5. Forin V, Arabi A, Guigonis V, Filipe G, Bensman A, Roux C. Benefits of pamidronate in children with osteogenesis imperfecta: an open prospective study. Joint Bone Spine 2005;72:313-8.
6. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363:1377-85.
7. Vyskocil V, Pikner R, Kutilek S. Effect of alendronate therapy in children with osteogenesis imperfecta. Joint Bone Spine 2005;72:416-23.
8. Chien YH, Chu SY, Hsu CC, Hwu WL. Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. J Inherit Metab Dis 2002;25:593-5.
9. Gökşen D, Coker M, Darcan S, Köse T, Kara S. Low-dose intravenous pamidronate treatment in osteogenesis imperfecta. Turk J Pediatr 2006;48:124-9.
10. Gökşen D, Darcan S, Coker M, Köse T. Bone mineral density of healthy Turkish children and adolescents. J Clin Densitom 2006;9:84-90.
11. Andiran N, Alikasifoglu A, Gonc N, Ozon A, Kandemir N, Yordam N. Cyclic pamidronate therapy in children with osteogenesis imperfecta: results of treatment and follow-up after discontinuation. J Pediatr Endocrinol Metab 2008;21:63-72.
12. Adiyaman P, Ocal G, Berberoğlu M, Evliyaoğlu O, Aycan Z, Cetinkaya E. The clinical and radiological assessment of cyclic intravenous pamidronate administration in children with osteogenesis imperfecta. Turk J Pediatr 2004;46:322-8.
13. Akcay T, Turan S, Guran T, Bereket A. Alendronate treatment in children with osteogenesis imperfecta. Indian Pediatr 2008;45:105-9.
14. DiMeglio LA, Peacock M. Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. J Bone Miner Res 2006;21:132-40.
15. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 2006;91:1268-74.
16. Poyrazoglu S, Gunoz H, Darendeliler F, et al. Successful results of pamidronate treatment in children with osteogenesis imperfecta with emphasis on the interpretation of bone mineral density for local standards. J Pediatr Orthop 2008;28:483-7.

Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta

Year 2017, Volume: 15 Issue: 1, 1 - 5, 01.04.2017

Mustafa Törehan Aslan Erdal Eren Halil Sağlam Ömer Tarım

https://doi.org/10.4274/jcp.26234

Abstract

Introduction: Osteogenesis imperfecta OI is a hereditary disease that impairs the quality of life by frequent bone fractures. The objective of our study is to retrospectively evaluate patients diagnosed with OI and to come up with helpful data that will assist developing new diagnosis and treatment protocols.Materials and Methods: Twenty-eight cases with OI who were followed-up in our clinic were retrospectively evaluated. Clinical classification of OI was done. Age, sex, and oxologic data were evaluated. Height, weight and body mass index BMI data was given as standard deviation score SDS . Family history of fracture and consanguineous marriage was sought. Blue sclera and presence of deformity was evaluated on physical examination.Results: Out of the 28 cases in our study, 14 50% were boys, 14 50% were girls, and mean age was 7.48±5.09 years. Mean age of diagnosis was 25.59±39.59 months. Ten cases 47.6% had OI, and 7 cases 25% had consanguineous marriage in their family history. The cases were separated into autosomal dominant 4 clinical types according to Sillence classification as follows; 13 cases 46.4% type 1, 10 cases 35.7% type 3, and 5 cases 17.9% type 4. The mean average basal dual energy X-ray absorptiometry Z score, mean height SDS, mean weight SDS and BMI SDS significantly increased for the cases after treatment p

Keywords

Osteogenesis imperfecta, pamidronate, dual energy X-ray absorptiometry

References

1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.
2. Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord 2008;9:153-60.
3. Yamashita S. [Bisphosphonates and other new therapeutic agents for the treatmednt of osteogenesis imperfecta]. Clin Calcium 2009;19:253-7.
4. Kuczmarski RJ, Ogden CL, Guo SS, et al. 2000 CDC Growth Charts for the United States: methods and development. Vital Health Stat 11 2002:1-190.
5. Forin V, Arabi A, Guigonis V, Filipe G, Bensman A, Roux C. Benefits of pamidronate in children with osteogenesis imperfecta: an open prospective study. Joint Bone Spine 2005;72:313-8.
6. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363:1377-85.
7. Vyskocil V, Pikner R, Kutilek S. Effect of alendronate therapy in children with osteogenesis imperfecta. Joint Bone Spine 2005;72:416-23.
8. Chien YH, Chu SY, Hsu CC, Hwu WL. Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. J Inherit Metab Dis 2002;25:593-5.
9. Gökşen D, Coker M, Darcan S, Köse T, Kara S. Low-dose intravenous pamidronate treatment in osteogenesis imperfecta. Turk J Pediatr 2006;48:124-9.
10. Gökşen D, Darcan S, Coker M, Köse T. Bone mineral density of healthy Turkish children and adolescents. J Clin Densitom 2006;9:84-90.
11. Andiran N, Alikasifoglu A, Gonc N, Ozon A, Kandemir N, Yordam N. Cyclic pamidronate therapy in children with osteogenesis imperfecta: results of treatment and follow-up after discontinuation. J Pediatr Endocrinol Metab 2008;21:63-72.
12. Adiyaman P, Ocal G, Berberoğlu M, Evliyaoğlu O, Aycan Z, Cetinkaya E. The clinical and radiological assessment of cyclic intravenous pamidronate administration in children with osteogenesis imperfecta. Turk J Pediatr 2004;46:322-8.
13. Akcay T, Turan S, Guran T, Bereket A. Alendronate treatment in children with osteogenesis imperfecta. Indian Pediatr 2008;45:105-9.
14. DiMeglio LA, Peacock M. Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. J Bone Miner Res 2006;21:132-40.
15. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 2006;91:1268-74.
16. Poyrazoglu S, Gunoz H, Darendeliler F, et al. Successful results of pamidronate treatment in children with osteogenesis imperfecta with emphasis on the interpretation of bone mineral density for local standards. J Pediatr Orthop 2008;28:483-7.

There are 16 citations in total.

Details

Primary Language	English
Journal Section	Research Article
Authors	Mustafa Törehan Aslan Erdal Eren This is me Halil Sağlam This is me Ömer Tarım This is me
Publication Date	April 1, 2017
Published in Issue	Year 2017 Volume: 15 Issue: 1

Cite

APA	Aslan, M. T., Eren, E., Sağlam, H., Tarım, Ö. (2017). Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri, 15(1), 1-5. https://doi.org/10.4274/jcp.26234
AMA	Aslan MT, Eren E, Sağlam H, Tarım Ö. Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri. April 2017;15(1):1-5. doi:10.4274/jcp.26234
Chicago	Aslan, Mustafa Törehan, Erdal Eren, Halil Sağlam, and Ömer Tarım. “Retrospective Evaluation of Patients Diagnosed With Osteogenesis Imperfecta”. Güncel Pediatri 15, no. 1 (April 2017): 1-5. https://doi.org/10.4274/jcp.26234.
EndNote	Aslan MT, Eren E, Sağlam H, Tarım Ö (April 1, 2017) Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri 15 1 1–5.
IEEE	M. T. Aslan, E. Eren, H. Sağlam, and Ö. Tarım, “Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta”, Güncel Pediatri, vol. 15, no. 1, pp. 1–5, 2017, doi: 10.4274/jcp.26234.
ISNAD	Aslan, Mustafa Törehan et al. “Retrospective Evaluation of Patients Diagnosed With Osteogenesis Imperfecta”. Güncel Pediatri 15/1 (April 2017), 1-5. https://doi.org/10.4274/jcp.26234.
JAMA	Aslan MT, Eren E, Sağlam H, Tarım Ö. Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri. 2017;15:1–5.
MLA	Aslan, Mustafa Törehan et al. “Retrospective Evaluation of Patients Diagnosed With Osteogenesis Imperfecta”. Güncel Pediatri, vol. 15, no. 1, 2017, pp. 1-5, doi:10.4274/jcp.26234.
Vancouver	Aslan MT, Eren E, Sağlam H, Tarım Ö. Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri. 2017;15(1):1-5.