Possible diagnostic markers for Mucopolysaccharidoses; Cathepsin-D, Galectin-3 and Chitotriosidase

Makaleler > Tam Makale · 2017

Yazarlar: Pelin Ergun, Mehtap Kagnıcı, Sema KALKAN UÇAR, Mahmut ÇOKER, Yasemin AKÇAY, Eser YILDIRIM SÖZMEN

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2017, cilt 7, ss 95-100

DOI: 10.5222/buchd.2017.095

Özet

Objective: Mucopolysaccharidoses is a group of inherited lysosomal storage diseases that are manifested by various clinical signs and symptoms (skeletal dysplasia, coarse face, progressive psychomotor retardation, cardiac and lung involvement) due to the deposition of glycosaminoglycans in tissues. Recently it has been shown that the inflammatory response to glycosaminoglycan deposition in leucocytes in animal models of mucopolysaccaridoses has increased. Here, we aimed to investigate some inflammatory markers (galectin-3, cathepsin-D and chitotriosidase) as diagnostic markers in different types of mucopolysaccharidosis and in patients with Gaucher disease and Niemann Pick A/B disease.

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