摘要
甲状旁腺功能减退症(hypoparathyroidism,HP)是由甲状旁腺素(parathyroid hormone,PTH)分泌过少和(或)效应不足而引起的一组临床综合征,以低血钙、高血磷、降低或不恰当"正常"水平的PTH为主要生化特征。HP最常见的病因是颈部手术造成的甲状旁腺切除或损伤,而非手术原因引起的HP主要包括自身免疫疾性病和遗传因素。线粒体DNA(mitochondrial DNA,mtDNA)突变导致的HP罕见。目前对线粒体基因突变所致HP的研究较为缺乏。本文综述mtDNA突变导致HP的临床表现,并对其分子机制进行探讨,以期提高对mtDNA突变导致的HP的认识。
Hypoparathyroidism is a group of clinical syndromes caused by decreased secretion and/or insufficient effects of parathyroid hormone,characterized by hypocalcemia,hyperphosphatemia,and decreased or inappropriately normal parathyroid hormone.The most common cause of hypoparathyroidism is surgery,autoimmune disease,and genetic disorders.Hypoparathyroidism caused by mitochondrial DNA mutations is extremely rare.Here we aimed to provide a comprehensive review of the clinical characteristics and the underlying molecular mechanisms of hypoparathyroidism caused by mitochondrial DNA mutations,to improve the understanding of such diseases.
作者
杨静
王鸥
YANG Jing;WANG Ou(Department of Endocrinology,Key Laboratory of Endocrinology of National Health Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Science&Peking Union Medical College,Beijing 100730,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2021年第5期578-584,共7页
Chinese Journal Of Osteoporosis And Bone Mineral Research
基金
国家自然科学基金面上项目(81873641,82070817)。
