PDF(Pubmed)
Abstract：
UNASSIGNED: Causative variants in genes responsible for Alström 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■导致Alström综合征（ALMS）和Bardet-Biedl综合征（BBS）的基因中的致病变异会对与许多组织中细胞信号传导途径的正确功能相关的原发性纤毛造成损害。尽管遗传背景不同,这两种综合征影响多个器官和许多临床表现是常见的，包括肥胖，视网膜变性,胰岛素抵抗，2型糖尿病和许多其他。该研究的目的是根据ALMS和BBS综合征患者的骨转换标志物和下颌骨萎缩的存在，评估骨代谢异常及其与代谢紊乱的关系。
■在18名患者（11名患有ALMS，7名患有BBS，年龄在5-29岁）和42名年龄匹配（p<0.05）的健康受试者中，评估了以下骨转换的标志物：血清骨钙蛋白（OC），骨保护素（OPG），s-RANKL和尿脱氧吡啶啉-DPD。此外,使用牙科全景X线照片评估牙槽萎缩的严重程度.
■与对照组相比，研究组的血清OC（p=0.0004）和尿DPD水平（p=0.0056）较低。在ALMS和BBS患者中，血清OC和尿DPD值与HOMA-IR指数呈负相关，同时发现OC和25-OHD水平呈正相关，s-RANKL与空腹血糖浓度呈负相关。观察到ALMS和BBS患者与对照组之间低度下颌骨萎缩的发生率存在显着差异（p<0.0001）。
■ALMS和BBS综合征患者骨代谢紊乱的鉴定表明有必要为他们提供这些异常的适当诊断和治疗。
■在18名患者（11名患有ALMS，7名患有BBS，年龄在5-29岁）和42名年龄匹配（p<0.05）的健康受试者中，评估了以下骨转换的标志物：血清骨钙蛋白（OC），骨保护素（OPG），s-RANKL和尿脱氧吡啶啉-DPD。此外,使用牙科全景X线照片评估牙槽萎缩的严重程度.
■与对照组相比，研究组的血清OC（p=0.0004）和尿DPD水平（p=0.0056）较低。在ALMS和BBS患者中，血清OC和尿DPD值与HOMA-IR指数呈负相关，同时发现OC和25-OHD水平呈正相关，s-RANKL与空腹血糖浓度呈负相关。观察到ALMS和BBS患者与对照组之间低度下颌骨萎缩的发生率存在显着差异（p<0.0001）。
■ALMS和BBS综合征患者骨代谢紊乱的鉴定表明有必要为他们提供这些异常的适当诊断和治疗。
