Spinal Musküler Atrofi Olgularının Klinik Özellikleri

Yıl 2016, , 18 - 22, 01.06.2016

Mehmet Canpolat Ayşe Kaçar Bayram Oğuzhan Bahadır Hüseyin Per Hakan Gümüş Munis Dundar Sefer Kumandaş

https://doi.org/10.4274/jcp.95866

Öz

Giriş: Bu çalışmanın amacı spinal musküler atrofi SMA tanısı olan olguların klinik özelliklerini değerlendirmektir.Gereç ve Yöntem: Otuz sekiz çocuk hasta geriye dönük olarak değerlendirildi. Tüm hastalar Erciyes Üniversitesi Tıp Fakültesi, çocuk nörolojisi bölümünde takip edildi. SMA tanısı genetik incelemede survival motor nöron 1 genindeki homozigot delesyonların saptanmasıyla teyit edildi. Tüm hastaların ayrıntılı öyküleri, yenidoğan belirtileri, beslenme özellikleri, başvuru belirtileri, fizik muayeneleri, eşlik eden patolojileri, genetik özellikleri ve tedavi yöntemleri araştırıldı. Bulgular: Çalışma popülasyonu 19 erkek %50 ve 19 kızdan %50 oluşuyordu. Hastaların ortalama yaşı 26,9±25,7 ay aralık: 3-96 ay idi. Ortalama takip süresi 12,2±13,3 ay aralık: 2-48 ay idi. SMA sınıflamasına göre, 22 hasta %57,8 tip1, 8 hasta %21,1 tip-2 ve 8 hasta %21,1 tip-3 idi. Yenidoğan solunum sıkıntısı, erken tanı yaşı, beslenme problemleri, tekrarlayan akciğer hastalıkları kötü prognostik faktörler olarak tespit edildi.Sonuç: SMA multidisipliner tıbbi bakım yaklaşımı gerektiren bir nöromusküler hastalıktır. Klinik şiddetinin çok geniş bir yelpazesi vardır. Kötü prognostik faktörlerin saptanması, SMA’lı çocukların yakından takibi ve zamanında tedavilerinin yapılması açısından yol gösterici olacaktır

Anahtar Kelimeler

Prognostik faktörler, spinal musküler atrofi, survival motor nöron gen 1

Clinical Characteristics of Cases with Spinal Muscular Atrophy

Öz

Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy SMA .Materials and Methods: Thirty-eight pediatric patients were evaluated retrospectively. All patients were followed in the Pediatric Neurology Department of Erciyes University Faculty of Medicine. The diagnosis of patients had been confirmed by genetic analysis of homozygous deletions of survival motor neuron 1 gene. Detailed history, newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys 50% and 19 girls 50% . The mean age of patients was 26.9±25.7 months range: 3-96 months . The mean follow-up period was 12.2±13.3 months range: 2-48 months . According to SMA classification, 22 patients 57.8% were type 1, 8 patients 21.1% were type 2, and 8 patients were 21.1% type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, and recurrent lung diseases were detected as poor prognostic factors.Conclusions: SMA is a neuromuscular disease that requires multidisciplinary approach to medical care. There is a wide range of clinical severity. Identification of poor prognostic factors will help in terms of guiding close monitoring and timely treatments of children with SMA

Anahtar Kelimeler

Prognostic factors, spinal muscular atrophy, survival motor neuron gene 1

Kaynakça

• 1. Pearn JH. The gene frequency of acute Werdnig–Hoffmann disease (SMA type 1). A total population survey in North East England. J Med Genet 1973;10:260-5.
• 2. Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2:423-8.
• 3. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
• 4. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
• 5. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-6.
• 6. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol 2012;46:1-12.
• 7. Morrison KE. Advances in SMA research: review of gene deletions. Neuromusc Disord 1996;6:397-408.
• 8. Erdem H, Pehlivan S, Topaloğlu H, Özgüç M. Deletion analysis in Turkish patients with spinal muscular atrophy. Brain Dev 1999;21:86-9.
• 9. Tassie B, Isaacs D, Kilham H, Kerridge I. Management of children with spinal muscular atrophy type 1 in Australia. J Paediatr Child Health 2013;49:815-9.
• 10. Durkin ET, Schroth MK, Helin M, Shaaban AF. Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I. J Pediatr Surg 2008;43:2031-7.
• 11. Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, et al. [Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods]. Arch Pediatr 2014;21:347-54.
• 12. Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol 2002;34:16-22.
• 13. Mercuri E, Bertini E, Messina S, Solari A, D’Amico A, Angelozzi C, et al. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 2007;68:51-5.
• 14. Kinali M, Mercuri E, Main E, De Biasia F, Karatza A, Hiqqins R, et al. Pilot trial of albuterol in spinal muscular atrophy. Neurology 2002;59:609-10.
• 15. Lemke D, Rothwell E, Newcomb TM, Swoboda KJ. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy. Pediatr Phys Ther 2014;26:237-44.