The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

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

JOURNAL OF PEDIATRIC RESEARCH, vol.8, no.3, pp.257-261, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.4274/jpr.galenos.2020.13334
  • Journal Name: JOURNAL OF PEDIATRIC RESEARCH
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.257-261
  • Keywords: Gaucher disease, skeletal involvement, osteoporosis, osteopenia, ENZYME REPLACEMENT THERAPY, VITAMIN-D, INVOLVEMENT
  • Gazi University Affiliated: Yes

Abstract

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.