Osman KİPOĞLU, Esin KARAKILIÇ ÖZTURHAN, Orhan COŞKUN, Ayşe Pınar ÖZTÜRK, Edibe PEMBEGÜL YILDIZ, Firdevs BAŞ, Nur AYDINLI, Mine ÇALIŞKAN

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

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.

Anahtar Kelimeler:

Spinal müsküler atrofi, kemik mineral yoğunluğu, kemik sağlığı

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

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,

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