Wartość diagnostyczna i zastosowanie kliniczne biomarkerów oraz ferrytynemii w chorobie Gauchera

Gaucher disease is a progressive, multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase (GBA), arising from autosomal recessive mutations in the GBA1 gene (1q21). There are several biomarkers used in Gaucher disease (i.e., chitotriosidase, CCL18/PARC, tartrate resistant acid phosphatase, angiotensin-converting enzyme), however, all of them have some disadvantages. It is believed that none of these biomarkers has a significant correlation with the clinical severity of Gaucher disease. A high proportion of patients with type 1 Gaucher disease present with hyperferritinemia, however, the pathophysiology of the high ferritin serum levels in Gaucher disease has not yet been elucidated and different mechanisms are possible. This review presents a current knowledge on biomarkers useful for diagnostic and monitoring of Gaucher disease with a focus on ferritinemia.