关键词: 关键词 , 线粒体突变 , 肾病综合征

Abstract:

ABSTRACT  A 19-year-old female patient with mitochondrial disease manifested primarily nephrotic syndrome, following diabetes, epilepsy, pre-excitation syndrome and neuromyopathy was reported. A novel change 8969G>A mutation in mitochondrial-DNA was found in peripheral blood. This case may be helpful for clinicians to pay attention on mitochondrial disease, which usually manifest multisystemic dysfunction with a broad clinical spectrum,not simply confined to the diagnosis of kidney, to avoid errors and missions of diagnosis. When the tests for common mitochondrial DNA (mtDNA) point mutations are negative and the mtDNA defects are still hypothesized, it is necessary to screen the entire mitochondrial genome for unknown mutations in order to confirm the diagnosis.

Key words: Key words  , mitochondrial-DNA mutation  , nephritic syndrome  , mitochondrial disease