Clinical Characteristics and Therapeutic Management of Osteogenesis Imperfecta in Iraqi Children

Nabeeha Najatee Akram; Matheel Mohammed Jaafar; Shaymaa Khalid Abdulqader; Wassan  Nori; Mustafa Ali Kassim Kassim; Alexandru Cosmin Pantazi

doi:10.54133/ajms.v5i1S.416

المؤلفون

Nabeeha Najatee Akram Department of Pediatrics, College of Medicine, Mustansiriyah University, Baghdad, Iraq https://orcid.org/0000-0001-8964-8943
Matheel Mohammed Jaafar Department of Pediatrics, Central Child Teaching Hospital, Baghdad, Iraq
Shaymaa Khalid Abdulqader Department of Radiology, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq https://orcid.org/0000-0001-7029-0451
Wassan Nori Department of Obstetrics and Gynecology, College of Medicine, Mustansiriyah University, Baghdad, Iraq https://orcid.org/0000-0002-8749-2444
Mustafa Ali Kassim Kassim Faculty of Medicine, “Ovidius” University of Constanta, 900470 Constanta, Romania https://orcid.org/0009-0009-5737-2634
Alexandru Cosmin Pantazi Faculty of Medicine, “Ovidius” University of Constanta, 900470 Constanta, Romania https://orcid.org/0000-0002-7234-2814

DOI:

https://doi.org/10.54133/ajms.v5i1S.416

الكلمات المفتاحية:

Children، Bisphosphonates، Osteogenesis imperfecta، Pamidronate

الملخص

الخلفية: تكون العظم الناقص (OI) هو حالة خلقية نادرة تؤدي إلى هشاشة العظام، والكسور المتكررة، ومظاهر مختلفة خارج الهيكل العظمي. حاليًا، يعتبر البايفوسفونيت الوريدي (باميدرونات) هو الدعامة الأساسية للعلاج الطبي في منظمة الصحة العالمية. تهدف هذه الدراسة إلى التعرف على تأثير استراتيجيات الإدارة الحالية لدى الأطفال العراقيين الذين تم تشخيص إصابتهم بـ OI. المرضى والطرق: سجلت دراسة بأثر رجعي مرضى OI الذين تم تسجيلهم في مستشفى الطفل المركزي التعليمي، بغداد (العراق)، من يناير 2015 إلى ديسمبر 2022. قمنا بتسجيل حالات OI المؤكدة (إما سريريًا و/أو إشعاعيًا) الذين تلقوا علاج باميدرونات الدوري لـ ما لا يقل عن 3 دورات. ولم يتلقوا أنواعًا أخرى من البايفوسفونيت ولم يخضعوا لتدخل جراحي. النتائج: تم تحديد ما مجموعه 52 حالة من حالات OI، ولكن 36 مريضا فقط كانوا مؤهلين للدراسة الحالية. كان متوسط عمر المرضى 6.64 × 4.22 سنة. أدت دورات الباميدرونات الوريدية إلى انخفاض ملحوظ إحصائيًا في معدل الكسر السنوي لدى المرضى الذين يعانون من OI (ع = 0.001) وتحسن كبير في الوزن بالنسبة للعمر Z-score (ع = 0.014)، وكثافة المعادن في عظام العمود الفقري القطني DEXA Z-score (p = 0.03) ومستويات الفوسفات القلوية (ع = 0.001). لم يتم توثيق أي تحسن كبير في الارتفاع بالنسبة للعمر Z-score لدى مرضى OI (ع = 0.284). الاستنتاج: إن الممارسة الحالية مع دورات الباميدرونات الوريدية التي تدار للأطفال العراقيين الذين يعانون من تكون العظم الناقص فعالة في تحسين معدل الكسر السنوي للمرضى، والوزن، وكثافة المعادن في عظام العمود الفقري القطني، ومستويات الفوسفات القلوية. لم يؤد الباميدرونات إلى تحسن في طول أطفال OI.

التنزيلات

بيانات التنزيل غير متوفرة بعد.

المراجع

Jovanovic M, Guterman-Ram G, Marini JC. Osteogenesis imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types. Endocr Rev. 2022;43(1):61-90. doi: 10.1210/endrev/bnab017.

Neri Morales C, Silva Amaro A, Cardona JD, Bendeck JL, Cifuentes Gaitan K, Ferrer Valencia V, et al. Osteogenesis imperfecta: A case series and literature review. Cureus. 2023;15(1):e33864. doi: 10.7759/cureus.33864.

Hidalgo Perea S, Green DW. Osteogenesis imperfecta: treatment and surgical management. Curr Opin Pediatr. 2021;33(1):74-78. doi: 10.1097/MOP.0000000000000968.

Ralston SH, Gaston MS. Management of osteogenesis imperfecta. Front Endocrinol (Lausanne). 2020;10:924. doi: 10.3389/fendo.2019.00924.

Monti E, Mottes M, Fraschini P, Brunelli P, Forlino A, Venturi G, et al. Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manag. 2010;6:367-81. doi: 10.2147/tcrm.s5932.

Alcorta-Sevillano N, Infante A, Macías I, Rodríguez CI. Murine animal models in osteogenesis imperfecta: The quest for improving the quality of life. Int J Mol Sci. 2022;24(1):184. doi: 10.3390/ijms24010184.

Pileggi VN, Scalize AR, Camelo Junior JS. Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta. Rev Paul Pediatr. 2016;34(4):484-488. doi: 10.1016/j.rpped.2016.02.005.

Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020;183(4):R95-R106. doi: 10.1530/EJE-20-0299.

Muñoz-Garcia J, Heymann D, Giurgea I, Legendre M, Amselem S, Castañeda B, et al. Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives. Biochem Pharmacol. 2023;213:115584. doi: 10.1016/j.bcp.2023.115584.

Marginean O, Tamasanu RC, Mang N, Mozos I, Brad GF. Therapy with pamidronate in children with osteogenesis imperfecta. Drug Des Devel Ther. 2017;11:2507-2515. doi: 10.2147/DDDT.S141075.

Cho TJ, Ko JM, Kim H, Shin HI, Yoo WJ, Shin CH. Management of osteogenesis imperfecta: A multidisciplinary comprehensive approach. Clin Orthop Surg. 2020;12(4):417-429. doi: 10.4055/cios20060.

Kok DH, Sakkers RJ, Janse AJ, Pruijs HE, Verbout AJ, Castelein RM, et al. Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial. Eur J Pediatr. 2007;166(11):1155-1161. doi: 10.1007/s00431-006-0399-2.

Letocha AD, Cintas HL, Troendle JF, Reynolds JC, Cann CE, Chernoff EJ, et al. Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res. 2005;20(6):977-986. doi: 10.1359/JBMR.050109.

Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998;339(14):947-952. doi: 10.1056/NEJM199810013391402.

Adler RA, El-Hajj Fuleihan G, Bauer DC, Camacho PM, Clarke BL, Clines GA, et al. Managing osteoporosis in patients on long-term bisphosphonate treatment: Report of a Task Force of the American Society for Bone and Mineral Research. J Bone Miner Res. 2016;31(1):16-35. doi: 10.1002/jbmr.2708.

Papri N, Islam Z, Leonhard SE, Mohammad QD, Endtz HP, Jacobs BC. Guillain-Barré syndrome in low-income and middle-income countries: challenges and prospects. Nat Rev Neurol. 2021;17(5):285-296. doi: 10.1038/s41582-021-00467-y.

Al Mosawi AJ. Ekman-Lobstein syndrome: Clinical, radiologic features, and the therapeutic challenge. Glob J Orthoped Res. 2019;2(1):1-4. doi: 10.33552/GJOR.2019.02.000529.

El Maghraoui A, Roux C. DXA scanning in clinical practice. QJM. 2008;101(8):605-617. doi: 10.1093/qjmed/hcn022.

Sheu A, Diamond T. Bone mineral density: testing for osteoporosis. Aust Prescr. 2016;39(2):35-39. doi: 10.18773/austprescr.2016.020.

Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, et al. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. Bone. 2018;110:368-377. doi: 10.1016/j.bone.2018.02.029.

Al-Rahal NK. Inherited bleeding disorders in Iraq and consanguineous marriage. Int J Hematol Oncol Stem Cell Res. 2018;12(4):273-281. PMID: 30774827.

Holtz AP, Souza LT, Ribeiro EM, Acosta AX, Lago RMRS, Simoni G, et al. Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort. Bone. 2023;169:116683. doi: 10.1016/j.bone.2023.116683.

Akram NN, Abed MA. Indications and outcome of albumin infusion in a neonatal population: A cross sectional study. J Med Chem Sci. 2022;5(1)129-136. doi:10.26655/JMCHEMSCI.2022.1.14.

Greeley CS, Donaruma-Kwoh M, Vettimattam M, Lobo C, Williard C, Mazur L. Fractures at diagnosis in infants and children with osteogenesis imperfecta. J Pediatr Orthoped. 2013;33(1):32-36. doi: 10.1097/BPO.0b013e318279c55d.

Pinheiro B, Zambrano MB, Vanz AP, Brizola E, Souza LT, Félix TM. Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center. Genet Mol Biol. 2019;42(1 suppl 1):252-260. doi: 10.1590/1678-4685-GMB-2018-0097.

Ward LM, Rauch F, Whyte MP, D'Astous J, Gates PE, Grogan D, et al. Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab. 2011;96(2):355-364. doi: 10.1210/jc.2010-0636.

Bishop N, Harrison R, Ahmed F, Shaw N, Eastell R, Campbell M, et al. A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. J Bone Miner Res. 2010;25(1):32-40. doi: 10.1359/jbmr.090712.

Kusumi K, Ayoob R, Bowden SA, Ingraham S, Mahan JD. Beneficial effects of intravenous pamidronate treatment in children with osteogenesis imperfecta under 24 months of age. J Bone Miner Metab. 2015;33(5):560-568. doi: 10.1007/s00774-014-0618-2.

Aström E, Söderhäll S. Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Arch Dis Child. 2002;86(5):356-364. doi: 10.1136/adc.86.5.356.

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(4):313-318. doi: 10.1016/j.jbspin.2004.08.011.

Palomo T, Fassier F, Ouellet J, Sato A, Montpetit K, Glorieux FH, et al. Intravenous bisphosphonate therapy of young children with osteogenesis imperfecta: Skeletal findings during follow up throughout the growing years. J Bone Miner Res. 2015;30(12):2150-2157. doi: 10.1002/jbmr.2567.

Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. Pediatrics. 2003;111(5 Pt 1):1030-1036. doi: 10.1542/peds.111.5.1030.

Shah I, Goel A, Shetty NS, Johari A. Intravenous pamidronate for treatment of osteogenesis imperfecta in Indian children. Trop Doct. 2021;51(2):271-274. doi: 10.1177/0049475520982694.

Salehpour S, Tavakkoli S. Cyclic pamidronate therapy in children with osteogenesis imperfecta. J Pediatr Endocrinol Metab. 2010;23(1-2):73-80. doi: 10.1515/jpem.2010.23.1-2.73.

Chagas CE, Roque JP, Santarosa Emo Peters B, Lazaretti-Castro M, Martini LA. Do patients with osteogenesis imperfecta need individualized nutritional support? Nutrition. 2012;28(2):138-142. doi: 10.1016/j.nut.2011.04.003

Sala A, Barr RD. Osteopenia and cancer in children and adolescents: The fragility of success. Cancer. 2007;109:1420–1451. doi: 10.1002/cncr.22546.

DiMeglio LA, Ford L, McClintock C, Peacock M. Intravenous pamidronate treatment of children under 36 months of age with osteogenesis imperfecta. Bone. 2004;35(5):1038-1045. doi: 10.1016/j.bone.2004.07.003.

Hwang S, Seo M, Lim D, Choi MS, Park JW, Nam K. Bilateral atypical femoral fractures after bisphosphonate treatment for osteoporosis: A literature review. J Clin Med. 2023;12(3):1038. doi: 10.3390/jcm12031038.

Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A, et al. Consensus guidelines on the use of bisphosphonate therapy in children and adolescents. J Paediatr Child Health. 2018;54(3):223-233. doi: 10.1111/jpc.13768.

Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study. Health Qual Life Outcomes. 2014;12:54. doi: 10.1186/1477-7525-12-54.

Akram NN, Nori W, Al Qaissi KW, Abdulrahman Hadi BA. Multi-systemic inflammatory syndrome in childhood (MIS-C): A review article. J Pak Med Assoc. 2021 Dec;71(Suppl 9)(12):S70-S73. PMID: 35130265.

Tuttle KR. Impact of the COVID-19 pandemic on clinical research. Nat Rev Nephrol. 2020;16(10):562-564. doi: 10.1038/s41581-020-00336-9.

.