Abstract：
BACKGROUND AND OBJECTIVE:Gaucher disease is an inherited disorder caused by deficit of acid β-glucocerebrosidase, responsible for the degradation of glucosylceramide to ceramide and glucose. Although the disorder is primarily hematologic, bone is the second most commonly affected structure. Cathepsin K (CATK) is an enzyme involved in bone remodelling process. It has been proposed that determination of its serum concentrations may provide additional information to other biomarkers. PATIENTS AND METHODS:The study included 20 control subjects and 20 Gaucher type 1 patients from Andalusia and Extremadura regions. We analyzed the biomarkers of bone remodelling: the bone alkaline phosphatase (B-ALP), the N-terminal propeptide of type 1 procollagen (P1NP), the β carboxyterminal telopeptide of type 1 collagen (CTx) and the CATK through electrochemiluminescence and immunoassay techniques. RESULTS:There is an increase in levels of CATK, CATK/P1NP and CATK/B-ALP ratios in type 1 Gaucher patients compared to the control group. Considering the existence of skeletal manifestations in the patient group, the CATK and CATK/P1NP ratio showed higher levels in patients with bone damage compared to those without it. CONCLUSIONS:Although imaging studies are the gold standard for monitoring bone disease in type 1 Gaucher patients, the utility of CATK should be considered as a possible indicator of bone damage in these patients. Furthermore, this parameter can be used in the monitoring of the treatment of bone pathology.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Bobillo Lobato J,Durán Parejo P,Núñez Vázquez RJ,Jiménez Jiménez LMdoi
10.1016/j.medcli.2014.11.018subject
Has Abstractpub_date
2015-10-05 00:00:00pages
281-7issue
7eissn
0025-7753issn
1578-8989pii
S0025-7753(14)00879-3journal_volume
145pub_type
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