Ugur Kader, Aydogan Yakup, Akgun Abdurrahman, Aydin Suleyman
Department of Internal Medicine (Endocrinology and Metabolism Diseases), School of Medicine, Firat University, Elazig, Turkey.
Department of Pediatric (Metabolism Diseases), School of Medicine, Firat University, Elazig, Turkey.
Biochem Insights. 2019 Jul 15;12:1178626419861407. doi: 10.1177/1178626419861407. eCollection 2019.
(the pancreas producing little or no insulin) is usually diagnosed in children and young adults and was previously known as juvenile diabetes. McArdle disease is a common metabolic defect caused by an inherited deficit of myophosphorylase. These 2 diseases might have some clinical heterogeneity. Here, we discuss a McArdle disease case where insulin-dependent diabetes overshadows its early diagnosis. In this case, an insulin-dependent 22-year-old female patient with diabetes mellitus had been on diabetes treatment for 15 years. Although her blood glucose was regulated, her anamnesis showed that muscle weakness, fatigue, cramps or myalgia never healed. Based on her anamnesis, the patient was asked to take a nonischemic forearm exercise test, which revealed significant elevation in levels of creatine kinase (5968-7906 U/L), but no increase was found in lactate concentration, but a slight increase in ammonia concentration (not statistically significant) at the end of the test made us consider McArdle disease. A genetic test was done to confirm this possibility. A homozygous c.2128_2130delTTC/p.Phe710del mutation was detected in the examination of exons of the gene, which confirmed the diagnosis of McArdle disease in our patient. According to the data, this is a rare case of McArdle disease with type 1 diabetes. During treatment for diabetes, if the above-mentioned symptoms are present in a patient, and especially if the patient's creatine kinase concentration is high, muscle diseases should be suspected. Therefore, we suggest that this case report will provide new insight to clinicians on metabolic defects in this disease and increase the patient comfort. In such cases, an early diagnosis should reduce health costs.
（胰腺分泌很少或不分泌胰岛素）通常在儿童和年轻成年人中被诊断出来，以前被称为青少年糖尿病。麦克尔迪氏病是一种常见的代谢缺陷，由遗传性肌磷酸化酶缺乏引起。这两种疾病可能存在一些临床异质性。在此，我们讨论一例麦克尔迪氏病病例，其中胰岛素依赖型糖尿病掩盖了其早期诊断。在该病例中，一名22岁的胰岛素依赖型糖尿病女性患者已接受糖尿病治疗15年。尽管她的血糖得到了控制，但她的病史显示肌肉无力、疲劳、痉挛或肌痛从未痊愈。基于她的病史，要求患者进行非缺血性前臂运动试验，结果显示肌酸激酶水平显著升高（5968 - 790�U/L），但乳酸浓度未升高，不过试验结束时氨浓度略有升高（无统计学意义），这使我们考虑麦克尔迪氏病。进行了基因检测以确认这种可能性。在该基因外显子检查中检测到纯合的c.2128_2130delTTC/p.Phe71趠el突变，这证实了我们患者的麦克尔迪氏病诊断。根据数据，这是一例罕见的合并1型糖尿病的麦克尔迪氏病病例。在糖尿病治疗过程中，如果患者出现上述症状，尤其是患者的肌酸激酶浓度较高时，应怀疑肌肉疾病。因此，我们建议本病例报告将为临床医生提供关于该疾病代谢缺陷的新见解，并提高患者舒适度。在这种情况下，早期诊断应能降低医疗成本。
