Tran Nam Quang, Phan Chien Cong, Vuong Tran Bao, Tran Thang Viet, Ma Phat Tung
Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Endocrinol Diabetes Metab Case Rep. 2023 Apr 19;2023(2). doi: 10.1530/EDM-22-0416. Print 2023 Apr 1.
Mitochondrial diseases are a group of rare diseases presenting with heterogeneous clinical, biochemical, and genetic disorders caused by mutations in the mitochondrial or nuclear genome. Multiple organs can be affected, particularly those with high energy demand. Diabetes is a common endocrine manifestation of mitochondrial diseases. The onset of mitochondrial diabetes can be latent or acute, and the presenting phenotype can be type 1- or type 2-like. Studies show that diabetes ais associated with latent progression of cognitive decline in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Herein, we report a case of rapid cognitive decline after the acute onset of diabetes in a patient with MELAS syndrome. The patient was a 36-year-old woman who was hospitalized due to hyperglycemic crisis and seizures. She was diagnosed with MELAS syndrome two years previously, and had gradually progressing dementia and hearing loss. However, following the acute onset of diabetes, she developed rapid cognitive decline and loss of ability to perform daily activities. In conclusion, the acute onset of diabetes could be an associated risk factor for rapid cognitive decline in patients with MELAS syndrome. Thus, these patients as well as healthy carriers with related genetic mutations should undergo diabetes education and screening tests. Moreover, clinicians should be aware of the possibility for acute onset of hyperglycemic crisis, particularly in the presence of triggering factors.
Diabetes is a common endocrine manifestation of mitochondrial diseases, presenting with a type 1- or type 2-like phenotype depending on the level of insulinopenia. Metformin should be avoided in patients with mitochondrial diseases to prevent metformin-induced lactic acidosis. Mitochondrial diabetes can manifest before or after the onset of MELAS syndrome. In patients with MELAS syndrome, diabetes can initially manifest with a life-threatening severe hyperglycemic crisis and can cause rapid cognitive decline. Diabetes screening tests (e.g. hemoglobin A1c, oral glucose tolerance test, or random blood glucose level measurement) should be performed either systematically or in the presence of symptoms, particularly after triggering events. Genetic testing and counseling should be provided to patients and their families for the purpose of better understanding the inheritance, progression, and possible outcomes of the disease.
线粒体疾病是一组罕见疾病，由线粒体或核基因组突变引起，表现出临床、生化和遗传方面的异质性疾病。多个器官可能受到影响，尤其是那些对能量需求高的器官。糖尿病是线粒体疾病常见的内分泌表现。线粒体糖尿病的发病可能是隐匿性的或急性的，其表现型可能类似1型或2型糖尿病。研究表明，糖尿病与线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）综合征患者认知功能下降的隐匿进展有关。在此，我们报告一例MELAS综合征患者在糖尿病急性发作后出现快速认知功能下降的病例。该患者为一名36岁女性，因高血糖危象和癫痫发作入院。她两年前被诊断为MELAS综合征，并有逐渐进展的痴呆和听力丧失。然而，在糖尿病急性发作后，她出现了快速认知功能下降和日常生活能力丧失。总之，糖尿病急性发作可能是MELAS综合征患者快速认知功能下降的相关危险因素。因此，这些患者以及携带相关基因突变的健康携带者应接受糖尿病教育和筛查测试。此外，临床医生应意识到高血糖危象急性发作的可能性，尤其是在存在触发因素的情况下。
糖尿病是线粒体疾病常见的内分泌表现，根据胰岛素缺乏程度表现为类似1型或2型的表型。线粒体疾病患者应避免使用二甲双胍，以预防二甲双胍诱发的乳酸酸中毒。线粒体糖尿病可在MELAS综合征发病之前或之后出现。在MELAS综合征患者中，糖尿病最初可能表现为危及生命的严重高血糖危象，并可导致快速认知功能下降。应系统地或在出现症状时，特别是在触发事件后，进行糖尿病筛查测试（如糖化血红蛋白、口服葡萄糖耐量试验或随机血糖水平测量）。应为患者及其家属提供基因检测和咨询，以便更好地了解疾病的遗传、进展和可能的结局。
