Summary： This study was aimed to investigate clinical features of Chinese metabolic syndrome （MS） subjects with normal urinary albumin to creatinine ratio （UACR） and to estimate independent correla- tion factor f...Summary： This study was aimed to investigate clinical features of Chinese metabolic syndrome （MS） subjects with normal urinary albumin to creatinine ratio （UACR） and to estimate independent correla- tion factor for UACR. Data were drawn from a cross-sectional survey in participants having MS. The patients with different grade of albuminuria were divided into 4 groups according to the value of UACR （〈10, 10-20, 21-30, 〉30 mg/g）. All underwent biochemical tests. Bioelectrical impedance body fat content, islet [3-cell function and insulin sensitivity were measured. Multivariable linear regression mod- els were applied to further determine association between UACR and clinical factors with adjustment. Systolic blood pressure （SBP）, diastolic blood pressure （DBP）, mean arterial pressure （MAP）, fasting plasma glucose （FPG）, glycosylated hemoglobin （HbAlc）, TG, fat mass, fat content and homeostasis model assessment for insulin resistance （HOMA-IR） were significantly higher in the group with UACR at 10-20 mg/g than those in the group with UACA lower than 10 mg/g （P〈0.05）. Multivariable linear regression showed that TG, HbAlc, waist-hip ratio （WHR） and SBP were independently associated with UACR. The patients with normal UACR had abnormal levels of MS components. The factors in- dependently associated with UACR were TG, HbAlc, WHR and SBP.展开更多
目的探讨新生儿期发病的特发性胆汁淤积症患儿的基因型特点。方法选择2015年11月至2018年11月首都儿科研究所附属儿童医院新生儿内科收治的特发性胆汁淤积症并完成全外显子测序检查的患儿进行回顾性分析,根据患儿基因检测结果分为病因...目的探讨新生儿期发病的特发性胆汁淤积症患儿的基因型特点。方法选择2015年11月至2018年11月首都儿科研究所附属儿童医院新生儿内科收治的特发性胆汁淤积症并完成全外显子测序检查的患儿进行回顾性分析,根据患儿基因检测结果分为病因明确组和病因未明组,分析两组患儿基因检测结果,并比较两组患儿1岁时胆红素水平。结果共纳入特发性胆汁淤积症患儿62例,均为汉族,男43例(69.4%);均在新生儿期发病,起病日龄<7 d 39例,7~14 d 9例,>14 d 14例。病因明确组16例,其中希特林蛋白缺乏症4例,Alagille综合征2例,进行性家族性胆汁淤积症1型和2型、半乳糖血症、瓜氨酸血症Ⅰ型、巨大舌-脐膨出综合征、关节挛缩-肾功能不全和胆汁淤积综合征、Menkes病、先天性胆汁酸合成障碍、D-双功能蛋白缺乏症、Dubin-Johnson综合征各1例;病因未明组46例。随访至1岁时,病因明确组胆红素异常比例高于病因未明组,差异有统计学意义(P=0.001)。结论全外显子测序可明确部分特发性胆汁淤积症患儿的病因,诊断结果有助于判断预后。胆汁淤积症患儿的遗传学病因较分散,希特林蛋白缺乏症、Alagille综合征及进行性家族性胆汁淤积症占比较高。展开更多
基金funded by National Key Technology Support Program of China(No.2009BAI80B02)
文摘Summary： This study was aimed to investigate clinical features of Chinese metabolic syndrome （MS） subjects with normal urinary albumin to creatinine ratio （UACR） and to estimate independent correla- tion factor for UACR. Data were drawn from a cross-sectional survey in participants having MS. The patients with different grade of albuminuria were divided into 4 groups according to the value of UACR （〈10, 10-20, 21-30, 〉30 mg/g）. All underwent biochemical tests. Bioelectrical impedance body fat content, islet [3-cell function and insulin sensitivity were measured. Multivariable linear regression mod- els were applied to further determine association between UACR and clinical factors with adjustment. Systolic blood pressure （SBP）, diastolic blood pressure （DBP）, mean arterial pressure （MAP）, fasting plasma glucose （FPG）, glycosylated hemoglobin （HbAlc）, TG, fat mass, fat content and homeostasis model assessment for insulin resistance （HOMA-IR） were significantly higher in the group with UACR at 10-20 mg/g than those in the group with UACA lower than 10 mg/g （P〈0.05）. Multivariable linear regression showed that TG, HbAlc, waist-hip ratio （WHR） and SBP were independently associated with UACR. The patients with normal UACR had abnormal levels of MS components. The factors in- dependently associated with UACR were TG, HbAlc, WHR and SBP.
文摘目的探讨新生儿期发病的特发性胆汁淤积症患儿的基因型特点。方法选择2015年11月至2018年11月首都儿科研究所附属儿童医院新生儿内科收治的特发性胆汁淤积症并完成全外显子测序检查的患儿进行回顾性分析,根据患儿基因检测结果分为病因明确组和病因未明组,分析两组患儿基因检测结果,并比较两组患儿1岁时胆红素水平。结果共纳入特发性胆汁淤积症患儿62例,均为汉族,男43例(69.4%);均在新生儿期发病,起病日龄<7 d 39例,7~14 d 9例,>14 d 14例。病因明确组16例,其中希特林蛋白缺乏症4例,Alagille综合征2例,进行性家族性胆汁淤积症1型和2型、半乳糖血症、瓜氨酸血症Ⅰ型、巨大舌-脐膨出综合征、关节挛缩-肾功能不全和胆汁淤积综合征、Menkes病、先天性胆汁酸合成障碍、D-双功能蛋白缺乏症、Dubin-Johnson综合征各1例;病因未明组46例。随访至1岁时,病因明确组胆红素异常比例高于病因未明组,差异有统计学意义(P=0.001)。结论全外显子测序可明确部分特发性胆汁淤积症患儿的病因,诊断结果有助于判断预后。胆汁淤积症患儿的遗传学病因较分散,希特林蛋白缺乏症、Alagille综合征及进行性家族性胆汁淤积症占比较高。
