Duchenne Musküler Distrofi’si olan Çocuklarda Güncel Tıbbi Beslenme Tedavisi ve Önemi

Öz

İlerleyici bir kas erimesi hastalığı olan Duchenne musküler distrofisi (DMD), distrofin proteini eksikliğine bağlı olarak ortaya çıkan önemli nöromusküler bir hastalıktır. Bu hastalarda ilerleyen yaş dönemlerinde solunum, kalp, beslenme gibi fonksiyonlarında sorunların arttığı dikkati çekmektedir. Yaşla birlikte artan bu sorunlar, obezite ve yetersiz beslenme gelişme riskini artırmakta ve hastalığın prognozunun daha kötüye gitmesine neden olmaktadır. DMD hastalığının kesin tedavisi olmamakla birlikte tedaviye ek olarak, hastaların obezite ve malnütrisyondan korunması, beslenme ve gastrointestinal sorunların varlığının doğrultusunda diyetsel değişikliklerinin yapılması önem taşımaktadır. DMD’li hastalarda kas bütünlüğünü korumaya yardımcı olacak bir beslenme düzeninin oluşturulması, erken yaşta başlayan kemik sağlığı problemlerini ve kilo üzerindeki olumsuz etkilerini azaltmada önemli rol oynamaktadır. Aynı zamanda uygulanan beslenme düzenine, sadece DMD’li hastanın değil tüm ailenin uyması, çocuğun bu düzene daha kolaylıkla alışmasını ve sürdürmesini sağlayacaktır. Bu nedenle DMD’li çocuklarda beslenme sorunları erken dönemde belirlenerek uygun tedavi yaklaşımları planlanmalı ve bu konuda multidisipliner bir ekiple tedavinin sürdürülmesi daha uygun olacaktır.

Anahtar Kelimeler

• duchenne musküler distrofi
• çocuk
• obezite
• malnütrisyon
• beslenme sorunu
• diyet tedavisi

Current Medical Nutrition Therapy and Its Importance in Children with Duchenne Muscular Dystrophy Abstract

Öz

Duchenne muscular dystrophy (DMD), a progressive muscle wasting disease, is an important neuromuscular disease that occurs due to dystrophin protein deficiency. It is noteworthy that in these patients, problems in functions such as breathing, heart and nutrition increase in advancing age. These problems, which increase with age, increase the risk of obesity and malnutrition and cause the prognosis of the disease to worsen. Although there is no definitive treatment for DMD, in addition to treatment, it is important to protect patients from obesity and malnutrition, and to make dietary changes in line with the presence of nutrition and gastrointestinal problems. Establishing a diet that will help protect muscle integrity in patients with DMD plays an important role in reducing early-onset bone health problems and their negative effects on weight. At the same time, compliance with the applied diet, not only for the patient with DMD, but also for the whole family, will enable the child to get used to and maintain this order more easily. For this reason, nutritional problems in children with DMD should be determined at an early stage and appropriate treatment approaches should be planned, and it would be more appropriate to continue the treatment with a multidisciplinary team.

Anahtar Kelimeler

• duchenne muscular dystrophy
• child
• obesity
• malnutrition
• nutritional problem
• diet therapy

Kaynakça

1. Ann-Charlott Söderpalm, M. A.-C.-K.-E. (2007). Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy. Neuromusculer Disorders, 17(11-12), 919-928.
2. Amerikan Pediatri Akademisi Beslenme Komitesi. Pediatrik Obezite. İçinde: Kleinman RE, Greer FR, editörler. Pediatrik beslenme. 7. Elk Grove Village, IL: Amerikan Pediatri Akademisi; 2014. s. 827.
3. Askeri Türken, S. V. (2021). Duchenne Musküler Distrofili Hastalarda Değerlendirme ve Beslenme. Fizyoterapide Güncel Yaklaşımlar, Bölüm 4.
4. Beth N Ogata, D. H. (2014). Position of the Academy of Nutrition and Dietetics: nutrition guidance for healthy children ages 2 to 11 years. J Acad Nutr Diet, 114(8), 1257-76.
5. David J Birnkrant, K. B. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol, 17(3), 251-267.
6. Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (Macronutrients). National Academies Press, Washington, DC. USA. (2005)
7. DiVito, D. M., & Meyers, R. M. (2012). Nutrition Assessment of Children With Neuromuscular Disease at The Children's Hospital of Philadelphia. Clinical Nutrition, 27(3), 206-217.
8. Dror Kraus, B. L. (2016). Constipation in Duchenne Muscular Dystrophy: Prevalence, Diagnosis, and Treatment. J Pediatr, 171, 183-8.

9. Elliott SA, Davidson ZE, Davies PS, Truby H. Predicting resting energy expenditure in boys with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2012;16:631–35.
10. Gian Paolo Ramelli, A. A. (2007). Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome. Dev Med Child Neurol, 49(5), 367-71.
11. Gürcistan E Moore, A. W. (2016). Describing nutrition in spinal muscular atrophy: A systematic review. Neuromuscul Disord, 26(7), 395-404.
12. Gürsoy S., E. M. (2016). Duchenne Musküler Distrofi Tedavisindeki Stratejiler. Türkiye Klinikleri Pediatrik Bilimler, 12(4), 60-66.
13. H W van Bruggen, L. V.-H. (2015). Reduced mandibular range of motion in Duchenne Muscular Dystrophy: predictive factors. J Oral Rehabil, 42(6), 430-8. Hatice Tuğçe Berberoğlu, N. A. (2021). Duchenne Kas Distrofisi Olan Hastalarda Beslenme Sorunları. Biyomedikal Bilimsel ve Teknik Araştırma Dergisi, 34(5), 27105-27111.
14. Institute of Medicine. Dietary reference intakes—the essential guide to nutrient requirements. Washington, DC: The National Academies Press; 2006.
15. J Davoodi, C. D. (2012). Nutrition strategies to improve physical capabilities in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am, 23(1), 187-99.
16. Jeanne H Freeland-Graves, S. N. (2013). Position of the academy of nutrition and dietetics: total diet approach to healthy eating. J Acad Nutr Diet, 113(2), 307-17.
17. Jillian Davis, E. S. (2015). Nutrition Considerations in Duchenne Muscular Dystrophy. Nutrition in Clinical Practice, 30(4), 511-521.
18. Joseph Dooley, K. E. (2010). Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila), 49(2), 177-9.
19. Karaduman, S. (2022, 7 20). Duchenne Musküler Distrofi (DMD) Nedir? Beslenme Tedavisi Nasıl Olmalıdır? birbes: https://www.birbes.com/?p=20152. adresinden alındı
20. Katharine Bushby, R. F. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol, 9(2), 177-89.
21. L. Martigne, D. S.-M. (2010). Efficacy and tolerance of gastrostomy feeding in Duchenne muscular dystrophy. Clinical Nutrition, 29(1), 60-64.
22. Lenie van den Engel-Hoek, I. J. (2015). Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview. J Neuromuscul Dis, 2(4), 357-369.
23. Leslie Cowen, M. M. (2019). Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry. BMC Neurol, 19(1), 84.
24. Lisak, R. P., Truong, D., Carroll, W. M., & Bhidayasiri, R. (2016). International neurology (Second edition.). Wiley.
25. M L Bianchi, L. M. (2011). Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment. Osteoporos Int, 22(2), 529-39.
26. Mami Shimizu-Fujiwara, H. K.-Y. (2012). Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. Brain Dev, 34(3), 206-12.
27. Maria Luisa Bianchi, D. B. (2011). Endocrine aspects of Duchenne muscular dystrophy. Neuromuscul Disord, 21(4), 298-303.
28. Marika Pane, I. V. (2006). Feeding problems and weight gain in Duchenne muscular dystrophy. Eur J Paediatr Neurol, 10(5-6), 231-6.
29. Michel Toussaint, Z. D. (2016). Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management. Disabil Rehabil, 38(20), 2052-62.
30. Muscular dystrophy: hope through research. National Institute of Neurological Disorders and Stroke. Updated February 25, 2021. Accessed May 28, 2021.
31. Nahla O. Musa, A. O.-F. (2020). Duchenne Musküler Distrofisi (DMD) Tanısı: Geçmiş ve Şimdiki Perspektifler. Zhan He Wu.
32. Oriana del Rocío Cruz-Guzmán, M. R.-C. (2015). Systemic Inflammation in Duchenne Muscular Dystrophy: Association with Muscle Function and Nutritional Status. Biomed Res Int(3), 891972.
33. Osvaldo Borrelli, G. S. (2005). Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy. Am J Gastroenterol, 100(3), 695-702.
34. Radley-Crabb HG, Marini JC, Sosa HA, Castillo LI, Grounds MD, et al. (2014) Dystropathology increases energy expenditure and protein turnover in the Mdx mouse model of Duchenne muscular dystrophy. PLoS ONE 9(2).
35. Ross AC, Taylor CL, Yaktine AL, Valle HBD, editors. Institute of Medicine. Dietary reference intakes for calcium and vitamin D. Washington, DC: The National Academies Press; 2011.
36. Simona Salera, F. M. (2017). Nutritional Challenges in Duchenne Muscular Dystrophy. Nutrients, 9(6), 594.
37. Sonia Messina, M. P. (2008). Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord, 18(5), 389-93.
38. Takahiro Motoki, Y. S.-M.-Y. (2015). Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients. Neuromuscul Disord, 25(10), 754-7.
39. Topaloğlu, H. (2020). Duchenne Musküler Distrofisi: Genel Bilgiler Ve Güncel Tedaviler. Türkiye Klinikleri Fizyoterapi Ve Rehabilitasyon-Özel Konular, 1-12.
40. US Department of Health and Human Services and US Department of Agriculture. Dietary guidelines for Americans 2015-2020. (8th) 2015 https://health.gov/dietaryguidelines/2015/guidelines/#navigation (accessed Dec 20, 2017).
41. Z E Davidson, H. T. (2009). A review of nutrition in Duchenne muscular dystrophy. Journal of Human Nutrition and Dietetics, 22(5), 383-393.