Mitochondrial diseases with the main manifestations of cardiomyopathy and respiratory muscle damage
10.3760/cma.j.issn.2095-428X.2016.08.013
- VernacularTitle:以心肌病和呼吸肌受累为主要表现的线粒体病
- Author:
Chenggang MAO
;
Nana NIE
;
Xingqing GUO
;
Min XU
;
Yanling YANG
;
Zipu LI
- Publication Type:Journal Article
- Keywords:
Cardiomyopathy;
Mitochondrial disease;
Ragged red fiber;
Mitochondrial gene;
3243A ＞ G
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(8):613-615
- CountryChina
- Language:Chinese
-
Abstract:
Objective The 3243A ＞ G mutation in mitochondrial DNA is a common cause of the classical mitochondrial diseases characterized by neuro-muscular disorders.This study reports a rare case with the main manifestations of mitochondrial disease in children of mitochondrial cardiomyopathy and respiratory muscle damage.Methods The clinical characteristics,diagnosis and treatment,biochemical,pathological and genetic features of a 10-year-old girl were studied.Results The girl was admitted because of heart failure and respiratory failure at the age of 10.Ragged red fibers in skeletal muscles had been noticed.On her mitochondrial gene,3243A ＞ G mutation,Leu tRNA (UUR),was detected.The mutation rate in the peripheral blood cells was 94％.After the treatment with a high dose of creatine phosphate sodium,coenzyme Q10 and L-carnitine with assisted ventilation,the patient improved rapidly.The child was followed up for 2 years without recurrence.Meanwhile the growth,development and daily life were normal.Conclusions Cardiac and respiratory muscle impairments that appeared at the same time as the first manifestations of the children's mitochondrial disease is not common,and it is rare to have cardiomyopathy based mitochondrial gene 3243A ＞ G mutation is seldom seen clinically.Skeletal muscle biopsy and genetic test is the key for accurate diagnosis.Improving mitochondrial metabolism and assisted ventilation appear to be helpful treatments.
