TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease.

ABSTRACT: Bone involvement occurs in 75% of patients with Gaucher disease (GD), and comprises structural changes, debilitating pain, and bone density abnormalities. Osteoporosis is a silent manifestation of GD until a pathologic fracture occurs. Thus, early diagnosis is crucial for identifying high-risk patients in order to prevent irreversible complications. Thirty-three patients with GD were assessed prospectively to identify predictive markers associated with bone density abnormalities, osteopenia (OSN), and osteoporosis (OSR). Subjects were categorized into three cohorts based on T- or Z-scores of bone mineral density (BMD). The first GD cohort consisted of those with no bone complications (Z-score ≥ -0.9; T-scores ≥ -1), the second was the OSN group (-1.8 ≥ Z-score ≥ -1; -2.5 ≥ T-score ≥ -1), a

SUBMITTER: Ivanova M 

PROVIDER: S-EPMC8160801 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature