TOTBİD Dergisi

TOTBİD Dergisi

2016, Cilt 15, Sayı, 4     (Sayfalar: 311-316)

Spinal problems in mucopolysaccharidoses

Şenol Bekmez 1, Muharrem Yazıcı 2

1 Özel Çankaya Hastanesi, Ortopedi ve Travmatoloji Departmanı, Ankara
2 Hacettepe Üniversitesi Tıp Fakültesi, Ortopedi ve Travmatoloji Anabilim Dalı, Ankara

DOI: 10.14292/totbid.dergisi.2016.38
Görüntüleme: 772
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İndirme : 710

In mucopolysaccharidosis, the enzymes involved in intracellular lysosomal degradation of glycosaminoglycans are congenitally lacking. This deficiency leads to abnormal accumulation of glucosaminoglycans` proteins in the tissues of the patient. In patients having mucopolysaccharidosis, musculoskeletal system is also affected by the disease, besides multiple organs and the system. Atlantoaxial instability, spinal stenosis, and thoracolumbar junction gibbus deformity constitute the characteristic mucopolysaccharidosis findings of the spine. In recent years, the expected life span of patients with mucopolysaccharidoses has increased, thanks to the advances of enzyme replacement therapy and bone marrow transplantation. Consequently, the treatment of disorders resulting from the involvement of the spine and the musculoskeletal system, plays a critical role in improving the functional capacity and quality of life of mucopolysaccharidosis patients.

Anahtar Kelimeler : mucoploysaccharidosis; thoracolumbar gibbus; lysosomal storage disease