부산대학교 도서관

INTRODUCTION Low bone mineral density (BMD) and recurrent bone fractures are an important problems in spinal muscular atrophy (SMA) patients (1). Various mechanisms are responsible for these conditions. Immobility negatively [...]
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 Amac: Spinal muskuller atrofi, alt motor noron hastaligidir, ancak kemik sagligi ve diger bircok organ sistemi etkilenebilir. Bu calismada, tip 2 ve 3 spinal muskuler atrofi tanisi alan hastalarda kemik mineral yogunlugu kemik metabolizmasi ve fiziksel buyume oranlari karsilastirildi. Gerec ve Yontemler: Calismaya spinal muskuler atrofisi olan 26 hasta dahil edildi (tip 2; 15, tip 3; 11 hasta). Hastalarin agirliklari ve boylari olculerek standart sapma skorlari belirlendi ve vucut kitle indeksi hesaplandi. Motor fonksiyon ve pubertal degerlendirme yapildi. Serum kalsiyum, fosfor, alkalen fosfataz, parathormon ve 25-hidroksivitamin D seviyeleri karsilastirildi. Skolyoz icin omurga radyografisi ve kemik mineral yogunlugu icin kemik dansltometrlsl yapilarak yas ve cinsiyete gore hacimsel kemik mineral yogunlugu hesaplandi. Bulgular: Tip 2 hastalarda medyan boy standart sapma skorlari anlamli olarak daha dusuktu. Iki grup arasinda serum kalsiyum, fosfor, alkalen fosfataz, parathormon ve 25-hidroksivitamin D seviyeleri acisindan fark yoktu. Tip 2 hastalarda skolyoz orani ve siddeti daha yuksek, volumetrlk kemik mineral yogunlugu Z skoru daha dusuktu. Sonuc: Bu calisma, kemik mineralizasyonunun ve buyume oranlarinin, ozellikle tip 2'de olmak uzere, spinal muskuler atrofide onemli olcude daha dusuk oldugunu gostermistir. Spinal muskuler atrofi hastalarinda kemik sagligini degerlendiren daha ileri calismalara ihtiyac vardir. Anahtar Kelimeler: Spinal muskuler atrofi, kemik mineral yogunlugu, kemik sagligi