The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

Kasapkara C. S., Olgac A., OKUR İ., EZGÜ F. S., TÜMER L.

JOURNAL OF PEDIATRIC RESEARCH, cilt.8, sa.3, ss.257-261, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/jpr.galenos.2020.13334
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.257-261
  • Anahtar Kelimeler: Gaucher disease, skeletal involvement, osteoporosis, osteopenia, ENZYME REPLACEMENT THERAPY, VITAMIN-D, INVOLVEMENT
  • Gazi Üniversitesi Adresli: Evet

Özet

Aim: Gaucher disease (GD) is the most prevalent hereditary lysosomal storage disorder, affecting multiple organ systems. It is characterized by a deficiency of the enzyme glucocerebrosidase leading to an accumulation of glucosylceramide in lysosomes. The majority of patients present with hepatosplenomegaly, anemia, thrombocytopenia, bleeding tendencies, skeletal pathologies, growth retardation and in severe cases pulmonary disease. The bone manifestations include bone infarcts, avascular bone necrosis, lytic lesions, osteopenia and osteoporosis. This article gives an overview of the bone manifestations of 20 GD patients and reviews the current literature.