Parents seek medical treatment in many ways, but the cause has not been found, and the symptoms have not improved significantly after treatment.
Half a month ago, chenchen's mother came to Zheng Hongjia, director of the Seventh Pediatric Ward of the First Affiliated Hospital of Henan University of Traditional Chinese Medicine.
After carefully inquiring about Chen Chen's illness, Director Hong Zheng suggested that the examination related to genetic and metabolic diseases should be improved according to the slow growth of children's height, accompanied by developmental disorders, nutritional disorders, low muscle tone and weak muscle strength.
Results Urine 3- methylpentenoic acid increased, blood neutrophil count decreased, and myocardial enzymes increased slightly, so Barth syndrome was highly suspected.
Barth syndrome is a rare X-linked recessive mitochondrial myopathy, which mainly affects heart function and blood system. If it is not treated regularly, the mortality rate is extremely high.
Chenchen's mother was like a bolt from the blue after listening to director Hong Zheng's explanation. She doesn't understand how such a tragedy can happen to her children and can't accept that children have such a disease.
Seeing chenchen's heartbroken mother, director Hong Zheng felt the same way. In order to help parents correctly understand and bravely face the disease, she contacted Professor Yang Yanling of Peking University No.1 Hospital for the first time. Professor Yang Yanling said that she would take time out of her busy schedule to conduct online consultation for chenchen.
At 9: 30am on October 24th, 2022/KLOC-0, 65438, the Pediatric Ward 7 of the First Affiliated Hospital of Henan University of Traditional Chinese Medicine invited Professor Yang Yanling, an authoritative expert on genetic and metabolic diseases in the First Hospital of Peking University, who was 3.5 years old.
Professor Yang Yanling inquired about the medical history and family history in detail and fully understood the evaluation, and pointed out that chenchen's current condition was relatively mild. It is also very lucky to find this disease in time and treat it as soon as possible, which is very important to reduce the incidence of severe cardiomyopathy and heart failure.
Professor Yang Yanling said that the main treatment of the disease is to avoid overwork and take L-carnitine and coenzyme Q 10 orally. It is suggested that the intake of sodium salt should be properly controlled to avoid the influence of high sodium on heart function.
She suggested that children should have regular checkups, and gave detailed instructions on their daily diet, life and mother's reproduction. It is emphasized that children with formal treatment can study and live like normal children, which also gives anxious parents a reassurance.
Professor Yang Yanling learned by asking about the medical history that chenchen's uncle had the same situation as his children since childhood, and the possibility of suffering from the disease was not ruled out. It is very important for him to improve genetic testing, which will make a clear diagnosis in time, intervene and treat in time, and avoid cardiomyopathy, arrhythmia and heart failure.
Finally, Professor Yang Yanling emphasized that the genetic and metabolic diseases hidden behind children's short stature and backward development are complex and numerous. As experts, we can't ignore any clues to uncover the fog and find the reason.
This special consultation was conducted in an orderly manner under the auspices of Director Hong Zheng. During the epidemic, you can enjoy the diagnosis and treatment of national experts without leaving home, which made chenchen's mother very moved.
It is reported that in order to help more children with difficult and rare diseases, the First Affiliated Hospital of Henan University of Traditional Chinese Medicine specially invited Professor Yang Yanling as a special expert and academic leader of pediatric endocrinology, genetics and metabolic diseases, and held 1 consultation with pediatric experts in our hospital every month. At present, hundreds of children have been diagnosed through consultation, which has brought great gospel to children.