title: [Cathepsin K as a biomarker of bone involvement in type 1 Gaucher disease].
abstract: 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.
  
  
  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.
authors: Servicio de Bioquímica Clínica, Hospital Universitario Virgen del Rocío, Sevilla, España.
authors: Joaquín
authors: J
authors: Bobillo Lobato
authors: Servicio de Bioquímica Clínica, Hospital Universitario Virgen del Rocío, Sevilla, España.
authors: Pilar
authors: P
authors: Durán Parejo
authors: Servicio de Hematología, Hospital Universitario Virgen del Rocío, Sevilla, España.
authors: Ramiro J
authors: RJ
authors: Núñez Vázquez
authors: Servicio de Bioquímica Clínica, Hospital Universitario Virgen del Rocío, Sevilla, España. Electronic address: lmjimenezj@telefonica.net.
authors: Luis M
authors: LM
authors: Jiménez Jiménez
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D016723:Bone Remodeling / Q000502:physiology*; D016022:Case-Control Studies; D056657:Cathepsin K / Q000097:blood*; D002648:Child; D005260:Female; D005269:Femur / Q000473:pathology; D005776:Gaucher Disease / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D013131:Spine / Q000473:pathology; D055815:Young Adult
chemical_list: D015415:Biomarkers; D056657:Cathepsin K
keywords: Biomarcador; Biomarkers; Bone damage; Bone remodelling; Catepsina K; Cathepsin K; Daño óseo; Enfermedad de Gaucher; Gaucher disease; Remodelado óseo