What symptom does Gaucher disease have?

summary

Gaucher's disease (GD), also known as glucocerebroside disease, is a familial disease of glucose and lipid metabolism. It is a recessive inheritance of chromosome and is the most common type of lysosomal deposition disease. Glucocerebroside is a kind of soluble glycolipid, which is one of the components of cells and widely exists in human body. Due to the lack of glucocerebrosidase, glucocerebroside accumulates in the mononuclear macrophages of liver, spleen, bone and central nervous system, resulting in corresponding clinical manifestations. What symptom does Gaucher disease have? Let's talk about it

What symptom does Gaucher disease have?

According to the severity of onset, visceral involvement and neurological symptoms, Gaucher's disease can be divided into three types: chronic (non neurotic, adult, type I), acute (type II, neurotic), subacute (type III, neurotic) and subacute (type III, neurotic). At the same time, according to the clinical manifestations of subacute type, it can be divided into Ⅲ a, Ⅲ B and Ⅲ C.

Due to the different degree of glucocerebrosidase deficiency, the clinical manifestations will be different. The main manifestations are as follows: 1. Growth and development lag behind their peers, or even regress; ② Hepatosplenomegaly, especially splenomegaly, appeared hypersplenism and portal hypertension;

Bone and joint involvement, visible pathological fractures; The skin showed fish scale like skin changes, and brown spots could be seen on the exposed skin; When the central nervous system was invaded, there were consciousness changes, language disorders, walking difficulties, convulsions and so on; Pulmonary involvement included cough, dyspnea and pulmonary hypertension; Ocular involvement showed dyskinesia, horizontal fixation difficulty, strabismus, etc.

matters needing attention

Using hematopoietic progenitor cells and myoblast transplantation, GBA gene was introduced into patients, and a large number of cells containing GBA gene were obtained in vivo through their proliferative characteristics to produce bioactive cells β- Glucocerebrosidase plays a long-term therapeutic role.