SPİNAL MÜSKÜLER ATROFİ TİP 2 VE 3’TE KEMİK SAĞLIĞI VE BÜYÜME

Abstract

Amaç: Spinal müsküler atrofi, alt motor nöron hastalığıdır, ancak kemik sağlığı ve diğer birçok organ sistemi etkilenebilir. Bu çalışmada, tip 2 ve 3 spinal müsküler atrofi tanısı alan hastalarda kemik mineral yoğunluğu kemik metabolizması ve fiziksel büyüme oranları karşılaştırıldı. Gereç ve Yöntemler: Çalışmaya spinal müsküler atrofisi olan 26 hasta dahil edildi (tip 2; 15, tip 3; 11 hasta). Hastaların ağırlıkları ve boyları ölçülerek standart sapma skorları belirlendi ve vücut kitle indeksi hesaplandı. Motor fonksiyon ve pubertal değerlendirme yapıldı. Serum kalsiyum, fosfor, alkalen fosfataz, parathormon ve 25-hidroksivitamin D seviyeleri karşılaştırıldı. Skolyoz için omurga radyografisi ve kemik mineral yoğunluğu için kemik dansitometrisi yapılarak yaş ve cinsiyete göre hacimsel kemik mineral yoğunluğu hesaplandı. Bulgular: Tip 2 hastalarda medyan boy standart sapma skorları anlamlı olarak daha düşüktü. İki grup arasında serum kalsiyum, fosfor, alkalen fosfataz, parathormon ve 25-hidroksivitamin D seviyeleri açısından fark yoktu. Tip 2 hastalarda skolyoz oranı ve şiddeti daha yüksek, volümetrik kemik mineral yoğunluğu Z skoru daha düşüktü. Sonuç: Bu çalışma, kemik mineralizasyonunun ve büyüme oranlarının, özellikle tip 2’de olmak üzere, spinal müsküler atrofide önemli ölçüde daha düşük olduğunu göstermiştir. Spinal müsküler atrofi hastalarında kemik sağlığını değerlendiren daha ileri çalışmalara ihtiyaç vardır.

Keywords

• Spinal müsküler atrofi
• kemik mineral yoğunluğu
• kemik sağlığı

BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3

Abstract

Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy type 2 and type 3. Materials and Methods: Twenty-six patients with spinal muscular atrophy were included in the study (15 patients for type 2 and 11 for type 3). Weights and heights of patients were measured, standard deviation scores were determined, and the body-mass index was calculated. Motor function and pubertal assessment were performed. Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-hydroxyvitamin vitamin D levels were compared. Spine radiography for scoliosis and bone densitometry for bone mineral density were performed, and volumetric bone mineral density was calculated for age and sex. Results: Medians of height standard deviation scores were significantly lower in type 2 patients. There was no difference between the two groups in terms of serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-hydroxyvitamin D levels. The ratio of scoliosis was higher in type 2 patients as was its severity, but Z-scores of volumetric bone mineral density was lower in the same group. Conclusion: This study showed that bone mineralization and growth rates were significantly lower in spinal muscular atrophy, mainly in type 2. Further studies are needed to evaluate bone health in spinal muscular atrophy patients.

Keywords

• Spinal muscular atrophy
• bone mineral density
• bone health

References

1. 1. Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV. Congenital bone fractures in spinal muscular atrophy:functional role for SMN protein in bone remodeling. J Child Neurol 2007;22(8):967-73. [CrossRef]
2. 2. Elias AN, Gwinup G. Immobilization osteoporosis in paraplegia. J Am Paraplegia Soc 1992;15(3):163-70. [CrossRef]
3. 3. Donaldson CL, Hulley SB, Vogel JM, Hattner RS, Bayers JH, McMillan DE. Effect of prolonged bed rest on bone mineral. Metabolism 1970;19(12):1071-84. [CrossRef]
4. 4. Shanmugarajan S, Tsuruga E, Swoboda KJ, Maria BL, Ries WL, Reddy SV. Bone loss in survival motor neuron (Smn-/- SMN2) genetic mouse model of spinal muscular atrophy. J Pathol 2009;219(1):52-60. [CrossRef]
5. 5. Vai S, Bianchi ML, Moroni I, Mastella C, Broggi F, Morandi L, et al. Bone and Spinal Muscular Atrophy. Bone 2015;79:116- 20. [CrossRef]
6. 6. Neyzi O, Bundak R, Gökçay G, Günöz H, Furman A, Darendeliler F, Baş F. Reference values for weight, height, head circumference, and body mass index in Turkish children. J Clin Res Pediatr Endocrinol 2015;7(4):280-93. [CrossRef]
7. 7. Cole TJ, Bellizzi MC, Flegal KM, Dietz WH. Establishing a standard definition for child overweight and obesity worldwide:International survey. BMJ 2000;320(7244):1240-3. [CrossRef]
8. 8. Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child 1969;44(235):291-303. [CrossRef]

9. 9. O’Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, et al. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord 2007;17(9-10):693-7. [CrossRef]
10. 10. Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. Am J Med Sci 1959;238:393. [CrossRef]
11. 11. Negrini S, Donzelli S, Aulisa AG, Czaprowski D, Schreiber S, Jean Claude de Mauroy, et al. 2016 SOSORT guidelines:Orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth. Scoliosis Spinal Disord 2018;13:3. [CrossRef]
12. 12. Granata C, Merlini L, Magni E, Marini ML, Stagni SB. Spinal muscular atrophy:Natural history and orthopaedic treatment of scoliosis. Spine (Phila Pa 1976) 1989;14(7):760- 62. [CrossRef]
13. 13. Munns CF, Shaw N, Kiely M, Specker BL, Thacher TD, Ozono K, et al. Global consensus recommendations on prevention and management of nutritional rickets. Horm Res Paediatr 2016;85(2):83-106. [CrossRef]
14. 14. Hui SL, Gao S, Zhou XH, Johnston CC, Ying Lu, Glüer CC, Grampp S, et al. Universal Standardization of Bone Density Measurements: A Method with Optimal Properties for Calibration Among Several Instruments. J Bone Mineral Research 1997;12(9):1463-70. [CrossRef]
15. 15. Carter DR, Bouxsein ML, Marcus R. New approaches for interpreting projected bone densitometry data. J Bone Miner Res 1992;7(2):137-45. [CrossRef]
16. 16. Goksen D, Darcan S, Coker M, Kose T. Bone Mineral Density of Healthy Turkish Children and Adolescents. J Clin Densitom 2006;9(1):84-90. [CrossRef]
17. 17. Weber DR, Boyce A, Gordon C, Högler W, Kecskemethy HH, Misra M, et al. The Utility of DXA Assessment at the Forearm, Proximal Femur, and Lateral Distal Femur, and Vertebral Fracture Assessment in the Pediatric Population: 2019 ISCD Official Position. J Clin Densitom 2019;22(4):567- 89. [CrossRef]
18. 18. Martinez EE, Quinn N, Arouchon K, Anzaldi R, Tarrant S, Ma NS, et al. Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy:Opportunity for an individualized approach. Neuromuscul Disord 2018;28(6):512-9. [CrossRef]
19. 19. Baranello G, Vai S, Broggi F, Masson R, Arnoldi MT, Zanin R, et al. Evolution of bone mineral density , bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3. Neuromuscul Disord 2019;29(7):525-32. [CrossRef]
20. 20. Kranioti EF, Bonicelli A, Garcia-Donas JG. Bone-mineral density:clinical significance, methods of quantification and forensic applications. Res Reports Forensic Med Sci 2019;9:9-21. [CrossRef]
21. 21. Wasserman HM, Hornung LN, Stenger PJ, Rutter MM, Wong BL, Rybalsky I, et al. Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity. Neuromuscul Disord 2017;27(4):331-7. [CrossRef]
22. 22. Kinali M, Banks LM, Mercuri E, Manzur AY, Muntoni F. Bone mineral density in a paediatric spinal muscular atrophy population. Neuropediatrics 2004;35(6):325-8. [CrossRef]
23. 23. Ott SM, O’Hanlan M, Lipkin EW, Newell-Morris L. Evaluation of vertebral volumetric vs. areal bone mineral density during growth. Bone 1997;20(6):553-6. [CrossRef]
24. 24. Boot AM, de Ridder MA, Pols HA, Krenning EP, de Muinck Keizer-Schrama SM. Bone mineral density in children and adolescents:relation to puberty, calcium intake, and physical activity. J Clin Endocrinol Metab 1997;82(1):57-62. [CrossRef]
25. 25. Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST. Low bone mineral density in spinal muscular atrophy. J Clin Neuromuscul Dis 2008;10(1):11-7. [CrossRef]
26. 26. Fujak A, Kopschina C, Forst R, Gras F, Mueller LA, Forst J. Fractures in proximal spinal muscular atrophy. Arch Orthop Trauma Surg 2010;130(6):775-80. [CrossRef]