期刊
BONE REPORTS
卷 17, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.bonr.2022.101600
关键词
Bone turnover markers; ALMS; BBS; Alveolar atrophy; Ciliopathy
资金
- National Science Centre [2018/29/B/NZ5/00330]
This study evaluated bone metabolism abnormalities in patients with ALMS and BBS syndromes, and found lower serum osteocalcin and urinary deoxypyridinoline levels, as well as their correlation with metabolic disorders. Additionally, a difference in mandibular atrophy was observed. These results indicate the necessity to provide appropriate diagnosis and treatment for patients with ALMS and BBS syndromes.
Objectives: Causative variants in genes responsible for Alstrom syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numerous clinical manifestations are common including obesity, retinal degeneration, insulin resistance, type 2 diabetes and many others. The aim of the study was to evaluate bone metabolism abnormalities and their relation to metabolic disorders based on bone turnover markers and presence of mandibular atrophy in patients with ALMS and BBS syndromes. Material and methods: In 18 patients (11 with ALMS and 7 with BBS aged 5-29) and in 42 age-matched (p < 0.05) healthy subjects, the following markers of bone turnover were assessed: serum osteocalcin (OC), osteoprotegerin (OPG), s-RANKL and urinary deoxypyridinoline - DPD. In addition, a severity of alveolar atrophy using dental panoramic radiograms was evaluated. Results: Lower serum OC (p = 0.0004) and urinary DPD levels (p = 0.0056) were observed in the study group compared to controls. In ALMS and BBS patients, serum OC and urinary DPD values negatively correlated with the HOMA-IR index, while a positive correlation between the OC and 25-OHD levels and a negative correlation between s-RANKL and fasting glucose concentrations were found. A significant difference in the incidence of low-grade mandibular atrophy between patients with ALMS and BBS and controls (p < 0.0001) was observed. Conclusions: The identification of bone metabolism disorders in patients with ALMS and BBS syndromes indicates the necessity to provide them with appropriate diagnosis and treatment of these abnormalities.
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