A check turned out to be a rare Gaucher's disease?

summary

Gaucher's disease, now known as Gaucher's disease, is a "more common" lysosomal storage disease, which is an autosomal recessive genetic disease. The disease is caused by the mutation of glucocerebrosidase gene, which is also called acidosis β Glucosidase, lack of activity, a check turned out to be a rare Gaucher's disease? Next, I'd like to share my views with you.

A check turned out to be a rare Gaucher's disease?

Non neuropathy is the most common subtype (90% in omeda and slightly lower in Northeast Asia). There is no manifestation of primary central nervous system involvement. Some patients with type I Gaucher's disease may have secondary neurological manifestations (such as spinal cord compression) as the disease progresses.

Most of the patients had bone invasion, but the degree was different. The affected parts mainly include the early lumbar spine, epiphysis and diaphysis of the long shaft, and epiphysis and bony process in the middle and late stage [3]. Patients often have acute or chronic bone pain, severe bone crisis (acute attack of severe bone pain, accompanied by fever and leukocytosis, erythrocyte sedimentation rate). X-ray showed flask like deformity, osteopenia, osteoporosis of the distal femur, and local dissolution of bone, bone infarction, pathological fracture, joint damage, etc.

Some patients may have lung involvement, mainly manifested as interstitial lung disease, pulmonary consolidation, pulmonary hypertension and so on. In addition, patients will also have abnormal glucose and lipid metabolism, multiple myeloma and other malignant tumor risk, cholelithiasis, immune system abnormalities and other manifestations.

matters needing attention

The diet is light and nutritious. Pay attention to a balanced diet. Avoid spicy food. In order to avoid the recurrence of the disease, for example, seafood, chicken, dog meat, etc. At the same time, do not fast stimulating food. Eat more fresh vegetables and fruits. Fresh vegetables and fruits contain a lot of nutrients needed by human body. Eat more food to improve immunity, in order to improve the body's disease resistance.