What are the symptoms of Gaucher's disease?

summary

Children with Gaucher's disease is not only a disease with abnormal blood, but also a disease with recessive chromosome inheritance. To prevent the disease, patients must do a good job in pre pregnancy examination. The prenatal examination for patients is mainly about chromosome, and there are hereditary metabolic diseases. And pregnancy is found through pregnancy test abnormalities, so what are the symptoms of children with Gaucher's disease? Now let's talk about it.

What are the symptoms of Gaucher's disease?

First, chronic type is also called non nerve type. The most common is the prevalence of Jewish species, especially in children and adults. The incidence rate is high in preschool children, with slow onset, long duration and no neurological involvement. The earlier the onset, the lower the enzyme activity. Generally, the activity of glucocerebrosidase in type I patients is 12% - 45% of that in normal people.

Second: acute type, also known as nerve type. Most of the patients were less than 1 year old and had symptoms as early as 1-4 weeks after birth. The condition varied with the time of onset. Except for the symptoms and signs of type I, the symptoms of nervous system were obvious and most of them died before 2 years old. This type of glucocerebrosidase has the lowest activity, which is almost difficult to detect.

Third: subacute type is also called nerve type. The onset of the disease is slower than that of type II, and it may occur in infancy. In addition to visceral involvement, there may be one mild or moderate neurological manifestation. Most of them appear at about 10 years old. This type of mental retardation is mild, and the IQ is about 70.

matters needing attention

Children's Gaucher's disease is divided into three categories according to the severity of the disease, so the symptoms of the disease are different. If the patients want to be treated, they must be treated according to the severity of the disease, otherwise serious complications will be caused, and the damage to the patients will increase. At present, the treatment of children's Gaucher's disease mainly includes enzyme therapy and gene therapy.