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Abstract：
The aim of this study was to analyze the clinical characteristics and the pattern of long-term changes of fasting plasma C-peptide in patients with mitochondrial diabetes (MD), and to provide guidance for the diagnosis and treatment of MD.
We retrieved MD patients with long-term follow-up at Peking Union Medical College Hospital from January 2005 to July 2021 through the medical record retrieval system and retrospectively analyzed their clinical data, biochemical parameters, fasting plasma C-peptide, glycosylated hemoglobin and treatment regimens. Non-parametric receiver operating characteristic (ROC) curves were used to assess the relationship between exercise test-related plasma lactate levels and suffering from MD.
A total of 12 MD patients were included, with clinical characteristics of early-onset, normal or low body weight, hearing loss, maternal inheritance, and negative islet-related autoantibodies. In addition, patients with MD exhibited significantly higher mean plasma lactate levels immediately after exercise compared to patients with type 1 diabetes mellitus (T1DM) (8.39 ± 2.75 vs. 3.53 ± 1.47 mmol/L, p=0.003) and delayed recovery time after exercise (6.02 ± 2.65 vs. 2.17 ± 1.27 mmol/L, p=0.011). The optimal cut-off points identified were 5.5 and 3.4 mmol/L for plasma lactate levels immediately after and 30 minutes after exercise, respectively. The fasting plasma C-peptide levels decreased as a negative exponential function with disease progression (Y= 1.343*e-0.07776X, R2 = 0.4154). Treatment regimens in MD patients were varied, with no metformin users and a weak correlation between insulin dosage and body weight.
The increased level of plasma lactate during exercise or its delayed recovery after exercise would contribute to the diagnosis of MD. Changes of fasting plasma C-peptide in MD patients over the course of the disease indicated a rapid decline in the early stages, followed by a gradual slowing rate of decline.
We retrieved MD patients with long-term follow-up at Peking Union Medical College Hospital from January 2005 to July 2021 through the medical record retrieval system and retrospectively analyzed their clinical data, biochemical parameters, fasting plasma C-peptide, glycosylated hemoglobin and treatment regimens. Non-parametric receiver operating characteristic (ROC) curves were used to assess the relationship between exercise test-related plasma lactate levels and suffering from MD.
A total of 12 MD patients were included, with clinical characteristics of early-onset, normal or low body weight, hearing loss, maternal inheritance, and negative islet-related autoantibodies. In addition, patients with MD exhibited significantly higher mean plasma lactate levels immediately after exercise compared to patients with type 1 diabetes mellitus (T1DM) (8.39 ± 2.75 vs. 3.53 ± 1.47 mmol/L, p=0.003) and delayed recovery time after exercise (6.02 ± 2.65 vs. 2.17 ± 1.27 mmol/L, p=0.011). The optimal cut-off points identified were 5.5 and 3.4 mmol/L for plasma lactate levels immediately after and 30 minutes after exercise, respectively. The fasting plasma C-peptide levels decreased as a negative exponential function with disease progression (Y= 1.343*e-0.07776X, R2 = 0.4154). Treatment regimens in MD patients were varied, with no metformin users and a weak correlation between insulin dosage and body weight.
The increased level of plasma lactate during exercise or its delayed recovery after exercise would contribute to the diagnosis of MD. Changes of fasting plasma C-peptide in MD patients over the course of the disease indicated a rapid decline in the early stages, followed by a gradual slowing rate of decline.
摘要：
本研究的目的是分析线粒体糖尿病（MD）患者空腹血浆C肽的临床特征和长期变化规律。为MD的诊断和治疗提供指导。
我们通过病历检索系统检索了2005年1月至2021年7月在北京协和医院长期随访的MD患者，并对其临床资料进行了回顾性分析。生化参数，空腹血浆C肽，糖化血红蛋白和治疗方案。非参数受试者工作特征（ROC）曲线用于评估与运动测试相关的血浆乳酸水平与MD之间的关系。
共纳入12例MD患者，具有早期发病的临床特征，正常或低体重，听力损失,母性继承,胰岛相关自身抗体阴性.此外,与1型糖尿病（T1DM）患者相比，MD患者在运动后立即表现出更高的平均血浆乳酸水平（8.39±2.75vs.3.53±1.47mmol/L,p=0.003）和运动后延迟恢复时间（6.02±2.65vs.2.17±1.27mmol/L，p=0.011)。确定的最佳临界点是5.5和3.4mmol/L的血浆乳酸水平运动后立即和30分钟后，分别。空腹血浆C肽水平随着疾病进展呈负指数函数下降(Y=1.343*e-0.07776X,R2=0.4154）。MD患者的治疗方案多种多样，没有二甲双胍使用者，胰岛素剂量与体重之间的相关性较弱。
运动时血浆乳酸水平升高或运动后恢复延迟有助于诊断MD。MD患者空腹血浆C肽在病程中的变化表明早期迅速下降，其次是逐渐放缓的下降速度。
我们通过病历检索系统检索了2005年1月至2021年7月在北京协和医院长期随访的MD患者，并对其临床资料进行了回顾性分析。生化参数，空腹血浆C肽，糖化血红蛋白和治疗方案。非参数受试者工作特征（ROC）曲线用于评估与运动测试相关的血浆乳酸水平与MD之间的关系。
共纳入12例MD患者，具有早期发病的临床特征，正常或低体重，听力损失,母性继承,胰岛相关自身抗体阴性.此外,与1型糖尿病（T1DM）患者相比，MD患者在运动后立即表现出更高的平均血浆乳酸水平（8.39±2.75vs.3.53±1.47mmol/L,p=0.003）和运动后延迟恢复时间（6.02±2.65vs.2.17±1.27mmol/L，p=0.011)。确定的最佳临界点是5.5和3.4mmol/L的血浆乳酸水平运动后立即和30分钟后，分别。空腹血浆C肽水平随着疾病进展呈负指数函数下降(Y=1.343*e-0.07776X,R2=0.4154）。MD患者的治疗方案多种多样，没有二甲双胍使用者，胰岛素剂量与体重之间的相关性较弱。
运动时血浆乳酸水平升高或运动后恢复延迟有助于诊断MD。MD患者空腹血浆C肽在病程中的变化表明早期迅速下降，其次是逐渐放缓的下降速度。
