目的 回顾性分析Gitelman综合征患者的表型及SLC12A3基因型特点,为进一步认识该病提供新的证据.方法 对2019年1月至2020年12月在空军军医大学第一附属医院就诊,且临床和基因检查明确确诊为Gitelman综合征的患者及其家系成员进行临床特征和基因变异分析.先收集患者临床资料,采用高通量测序筛查基因变异,再以Sanger测序对患者及其家系成员进行验证.结果 共纳入12例来自不同家系的Gitelman综合征患者.所有患者均存在低血钾、低血镁、低尿钙,仅4例患者可能存在低氯性代谢性碱中毒.1例患者诊断为糖尿病,1例患者诊断为糖尿病前期.2例患者因反复心悸多次于急诊科诊治,分别诊断为阵发性室性心动过速和频发室性早搏.共检出变异位点19个,其中检出频率较高的变异位点依次为c.179C>T(3/12)、c.1456G>A(2/12)和c.2582G>A(2/12),未报道的新变异位点为c.2178+1G>T和外显子4～6缺失变异.治疗随访阶段只有2例患者的血钾和血镁恢复正常.结论 我们检出2处新的SLC12A3基因变异位点.Gitelman综合征患者电解质紊乱难以纠正至正常,但临床症状可不同程度改善,且相比普通人群具有更高的糖代谢紊乱风险.对表现为心悸的Gitelman综合征患者应保持警惕,防治心律失常.

Objective:We aimed to explore the relationship between the change amplitude of glycemic and metabolic syndrome after glucose load in normal glucose tolerance (NGT) people.Methods:According to the World Health Organization diabetes diagnostic criteria, a total of 22 302 NGT subjects with complete data were screened from the China National Diabetes and Metabolic Disorders Study (CNDMDS) from 2007 to 2008. The absolute difference between 2 h post-load glucose (2hPG) and fasting plasma glucose (FPG) during oral glucose tolerance test (OGTT) was used to reflect the change amplitude of glycemic, and compare the differences of metabolic indices and the prevalence of metabolic syndrome between different change amplitude. As a part of CNDMDS, 3 247 subjects completed the baseline survey from 2007 to 2008 in Shaanxi Province, in the retrospective cohort to 2016 and 2017, a total of 678 NGT subjects with complete data were included in the confirmatory analysis. According to the cut-off point of the change amplitude of glycemic related to metabolic diseases from the receiver operating characteristic curve (ROC) in the cross-sectional analysis, subjects were divided into two groups to compare the incidence risk of diabetes after 9 years of follow-up. The t test, analysis of variance and chi-square test were used to compare the differences in clinical characteristics and metabolic indices among different groups, and Logistic regression analysis was used to evaluate the influence of different groups on the prevalence of MS and the incidence of diabetes. Results:We divided the change amplitude of glycemic after glucose load of 22 302 subjects into quartiles, among which the change amplitude were as follows: Q1 group (<0.45 mmol/L, 5 593 subjects), Q2 group (0.45 to 0.93 mmol/L, 5 603 subjects), Q3 group (0.94 to 1.60 mmol/L, 5 636 subjects), Q4 group (>1.60 mmol/L, 5 470 subjects); the body mass index (BMI), waist circumference, blood pressure, total cholesterol, triglycerides (TG) and low-density lipoprotein cholesterol (LDL-C) were increased significantly with the increasement of the change amplitude of glycemic, while high-density lipoprotein cholesterol (HDL-C) decreased significantly, the prevalence of metabolic syndrome (MS) and the proportion of subjects with middle or high risk for developing coronary heart disease in 10 years [Framingham risk score (FRS) ≥10%] were increased significantly. Logistic regression analysis showed that the large change amplitude of glycemic after glucose load was a risk factor for MS. Use MS and FRS ≥10% as the outcome variables, the change amplitude of glycemic as the independent variable, the cut-off point of the change amplitude of glycemic both were 1.09. Among 678 NGT subjects in the retrospective cohort, the incidence of diabetes in the group with small change amplitude of glycemic (the change amplitude of glycemic ≤1.09 mmol/L) and large change amplitude of glycemic (the change amplitude of glycemic >1.09 mmol/L) were 7.2% (28/388) and 13.1% (38/290), respectively, the difference was statistically significant ( P=0.011). Logistic regression analysis showed that the change amplitude of glycemic after glucose load >1.09 mmol/L was a risk factor for diabetes, after adjusting for age, gender, BMI, smoking, drinking, exercise and family history of diabetes, the risk ratio was 1.829 (95%CI 1.079 to 3.101, P=0.025). Conclusion:In NGT people, the large change amplitude of glycemic after glucose load was a risk factor for metabolic diseases and could predict the occurrence of diabetes.

Objective:To investigate the relationship between changes of weight status after becoming overweight in young adults and middle-aged and weight loss ratio and the risk of hypertension in middle-aged and elderly population.Methods:Participants aged 40-79 years old were selected from China National Diabetes and Metabolic Disorders Survey. Weight loss ratio was defined as (maximum weight-current weight)/maximum weight. The association between changes of weight status after becoming overweight in young adults and middle-aged and weight loss ratio and the risk of hypertension was examined by using multivariate logistic regression.Results:A total of 7 623 cases of hypertension were diagnosed among 19 823 study participants. (1) Compared with normal weight group(18.5 kg/m 2≤both MAXBMI and BMI<24.0 kg/m 2), the OR(95% CI) of hypertension for continuous overweight group from young adults(both MAXBMI and BMI≥24.0 kg/m 2, 18 years≤age of maximum weight<40 years), continuous overweight group from middle-aged(both MAXBMI and BMI≥24.0 kg/m 2, 40 years≤age of maximum weight<60 years) were 2.66(2.38-2.96) and 2.79(2.56-3.03), and the OR(95% CI) for past overweight from young adults(MAXBMI ≥24.0 kg/m 2, 18.5 kg/m 2≤BMI<24.0 kg/m 2, 18 years ≤ age of maximum weight<40 years), past overweight from middle-aged (MAXBMI≥24.0 kg/m 2, 18.5 kg/m 2≤BMI<24.0 kg/m 2, 40 years≤age of maximum weight<60 years) were 1.20(1.04-1.37) and 1.58(1.40-1.78). (2)Compared with weight loss ratio<5%, weight loss ratio ≥5% was associated with decreased risk of hypertension in normal weight (18.5 kg/m 2≤MAXBMI<24.0 kg/m 2) and overweight(MAXBMI≥24.0 kg/m 2) population. Conclusion:Overweight in young adults and middle-aged is associated with increased risk of hypertension in middle-aged and aged population regardless of current BMI. Weight loss of 5% or more from maximum body weight may be a protective factor against hypertension regardless of MAXBMI.