Enzyme Replacement Therapy in a Gaucher Family

Erdem N., Buran T., BERBER İ., Aydogdu I.

JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, cilt.110, sa.4, ss.330-333, 2018 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 110 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.jnma.2017.06.013
  • Dergi Adı: JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.330-333
  • Anahtar Kelimeler: Gaucher, Enzyme replacement therapy, Early treatment, DISEASE, MUTATIONS, TYPE-1, RECOMMENDATIONS, IDENTIFICATION
  • İnönü Üniversitesi Adresli: Evet

Özet

Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase. It's an autosomal recessive disease and as a result of this enzyme deficiency, glucocerebroside accumulates in various types of tissues like liver, brain spleen and bone marrow. We aimed to describe the effects of enzyme replacement therapy in three members of a family with Gaucher disease and to emphasize screening of the family members of the patients with Gaucher disease. Furthermore, late diagnosis and treatment in these patients have a minimal effect on improvement of the quality of Fie, and early diagnosis and treatment are very important in Gaucher disease.