线粒体DNA突变相关肾脏损害  

Mitochondrial DNA mutations in kidney diseases

作　　者：吴晓梅(综述) 谢红浪(审校) WU Xiaomei;XIE Honglang(National Clinical Research Center of Kidney diseases,Jinling Hospital,Nanjing University School of Medicine,Nanjing 210016,China)

机构地区：[1]东部战区总医院国家肾脏疾病临床医学研究中心全军肾脏病研究所,南京210016

出　　处：《肾脏病与透析肾移植杂志》2022年第2期170-174,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：国家临床医学研究中心军队专项基金(JD20200820)。

摘　　要：肾小球滤过液重吸收过程能量消耗很高,因此肾脏细胞富含线粒体。线粒体和细胞核基因突变均可导致线粒体病。线粒体DNA突变相关线粒体功能障碍可导致多种病变,包括肾小管疾病(如Fanconi综合征及各种电解质紊乱)、慢性间质性肾炎和肾小球疾病(如局灶节段性肾小球硬化)等,部分患者可进展为终末期肾病。这些病变的根本机制仍未完全明确,更好地理解其分子机制对于提高疗效、改善预后至关重要。Renal cells have a high density of mitochondria,resulting from the high energy demand for kidney to facilitate reabsorption of glomerular filtrate.Mutation of nuclear and mitochondrial DNA could both lead to mitochondrial cytopathies.Renal involvement in mitochondrial cytopathies associated with mitochondrial DNA mutation include tubular dysfunction(such as Fanconi syndrome and electrolyte disturbances),tubulointerstitial nephritis,and glomerular diseases(such as focal segmental glomerular sclerosis).And mitochondrial cytopathies could lead to end-stage renal diseases eventually in a group of patients.The molecular mechanism of these cytopathies remain to be elucidated;Further research of mitochondrial nephropathy may provide important mechanistic insights and new therapeutic options.

关 键 词：线粒体DNA突变 肾小管疾病 肾小管间质性肾炎 肾小球疾病 

分 类 号：R69[医药卫生—泌尿科学]