Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

TÜMER L., Kasapkara C. S., BİBEROĞLU G., Ezgu F. S., Hasanoglu A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.26, sa.11-12, ss.1149-1152, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 11-12
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1515/jpem-2013-0066
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1149-1152
  • Anahtar Kelimeler: chitotriosidase activity, glycogen storage disease type I, GLYCOSYL HYDROLASES, MARKED ELEVATION, GAUCHER-DISEASE, CHITINASE, TUBERCULOSIS, FAMILY
  • Gazi Üniversitesi Adresli: Evet

Özet

Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3 +/- 16.4 vs. 12.3 +/- 8.9 nmol/h/mL, p=0.04). All the patients reported here presented with hepatomegaly. Our report expands the spectrum of disorders that should be included in the differential diagnosis of patients with increased plasma chitotriosidase activity, irrespective of the mechanisms involved.