When it comes to hemodialysis, many people think that patients must be suffering from serious diseases such as renal insufficiency. When faced with such a situation, the mood of patients and their families can be imagined. But all things in the world are not absolute, and there are times when “the mountains are heavy and the rivers are full of doubts and there is no way, and the willows are dark and the flowers are bright.” Such luck met Xiao Liu (pseudonym), a patient from the Third Hospital of Zhengzhou City.
I don’t know since when, Xiao Liu felt that his athletic ability was declining, his body was weak, his appetite was not as good as before, and it was more difficult to finish the physical education class. Xiao Liu’s mother said: “This is not what a 17-year-old boy should look like. He has to go to the hospital for a check.”
The local hospital found out that Xiao Liu suffered from renal insufficiency. with severe anemia. Hospital in accordance with the treatment of kidney disease, while giving correction of anemia. However, after more than a year of treatment, Xiao Liu’s condition deteriorated and his walking ability became worse and worse. He even needed a wheelchair to travel long distances. His kidney function was damaged and anemia was getting worse day by day, and he was on the verge of dialysis. Xiao Liu’s mother is very anxious. Does her son really have to spend the rest of his life in a wheelchair and dialysis?
Xiao Liu’s mother went to the rare disease clinic of the third hospital in Zhengzhou, and found the hospital responsible for rare disease treatment Deputy Chief Physician Wang Yanli, through Wang Yanli’s careful inspection of the condition, found that Xiao Liu was in a state of spastic paraplegia, mainly involving both lower extremities, and had severe peripheral nerve damage. The cranial nerve examination showed no abnormality. Knowing that the patient was normal when he was young, and his exercise ability was gradually declining, it was considered that the disease was caused by abnormal metabolism. After further testing, the real cause, methylmalonic acidemia, was finally found.
According to Wang Jili, director of the Rare Disease Team of the Neurology Department of the Third Hospital of Zhengzhou City, methylmalonic acidemia is the most common disease among hereditary organic acid metabolism abnormalities, which can cause a series of nervous system diseases. damage and damage to other organs. Neonatal and infant mortality is high. Seven different types of enzyme deficiency have been found, and the clinical manifestations of different types vary greatly, making clinical diagnosis very difficult. It is a rare disease that is easily misdiagnosed and difficult to treat.
Since Xiao Liu’s kidney damage is related to abnormal metabolism in the body, after carrying out metabolic intervention in the body and conducting detailed genetic testing, Wang Jili led the genetic rare disease treatment team and classified Xiao Liu according to the biological type. Precise treatment.
After eight months of intensive treatment, Xiao Liu’s various indicators gradually improved. The latest test results showed that the kidney indicators and blood routine returned to normal. This result means that Xiao Liu will never again No need to endure the pain caused by dialysis! With the gradual recovery of Xiao Liu’s athletic ability, he finally bid farewell to the wheelchair, and the Zhengzhou No. 3 Hospital gave the 17-year-old boy youth.
It is understood that Zhengzhou No. 3 People’s Hospital is a member of the Henan Rare Disease Alliance. It has diagnosed and treated more than 100 rare diseases in the past three years. On the occasion of the 15th International Rare Disease Day on February 28, 2022, let us use the theme of this publicity day “Share the Color of Your Life” to wish more patients to receive precise treatment and restore a wonderful life! (Jiang Wei)< /p>