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作 者:赵乃蕊[1] 王光亚[1] 许金秀[1] ZHAO Nairui;WANG Guangya;XU Jinxiu(The Second Department of Endocrinology and Diabetes,Cangzhou Central Hospital in Hebei Province,Cangzhou 061000,China)
机构地区:[1]河北省沧州市中心医院内分泌糖尿病二科,河北沧州061000
出 处:《中国现代医生》2022年第5期176-179,共4页China Modern Doctor
摘 要:肌营养不良症为X-连锁隐性遗传病,是临床罕见病,而合并扩张性心肌病者更是罕见报道。但目前肌营养不良症尚无特效治疗方法,临床上以延缓病情进展为主。维生素D缺乏在扩张性心肌病患者中发挥着潜在作用。本研究报道1例以双下肢进行性乏力就诊的成年男性患者,除家族中有肌营养不良症患者,同时合并扩张性心肌病,伴低血钙、低血磷、低25-羟基维生素D、甲状旁腺素升高等实验室异常。住院期间给予补充活性维生素D及钙剂,患者下肢乏力症状有所缓解。通过分析病例特点及相关文献复习,了解并探讨肌营养不良症、扩张性心肌病、维生素D缺乏及低钙血症之间的相互关系,以期提高临床医师对疾病的认识,减少误诊;提醒临床医师重视维生素D缺乏的危害,增强警惕性。Muscular dystrophy is an X-linked recessive genetic disease,which is a rare clinical disease,and the combination of dilated cardiomyopathy is even more rarely reported.However,there is no specific treatment for muscular dystrophy.Clinically,it mainly focuses on slowing the progression of the disease.Vitamin D deficiency plays a potential role in patients with dilated cardiomyopathy.This article reports a case of an adult male patient with progressive weakness of both lower limbs.In addition to family members with muscular dystrophy,the patient also had dilated cardiomyopathy,accompanied by laboratory abnormalities such as hypocalcemia,hypophosphate,low 25-hydroxyvitamin D,and elevated parathyroid hormone.During the hospitalization,active vitamin D and calcium were supplemented,and the symptoms of the patient’s lower limb weakness were relieved.Through analyzing the characteristics of cases and reviewing relevant literature,the relationship between muscular dystrophy,dilated cardiomyopathy,vitamin D deficiency and hypocalcemia was understood and explored,in order to improve clinicians’understanding of the disease and reduce misdiagnosis.The clinic physicians should be reminded of attaching importance to the harm of vitamin D deficiency and increasing their vigilance.
关 键 词:肌营养不良 维生素D缺乏 低钙血症 继发性甲状旁腺功能亢进 扩张性心肌病
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