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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Gaucher disease in children

儿科综合

Common symptoms

颈强直、肝功能异常、牙关紧闭、骨质疏松、骨痛、肌肉萎缩、肺受累、发绀、角弓反张、惊厥

The pathology of disease

Gaucher disease in children is glucocerebrosidase deficiency; hepatosplenomegaly; thrombocytopenia; bone pain; ER-P Glucosylceramide; enzyme replacement; pediatric metabolic/genetics.

Symptoms

Hepatosplenomegaly; thrombocytopenia; bone pain; child; Ashkenazi Jews; ER-P cell; Gaucher

Causes

GBA mutation; AR; glucocerebrosidase deficiency; Gaucher disease.

Treatment

Enzyme replacement therapy; substrate reduction; orthopedic; pediatric metabolic/genetics

Dept

Pediatrics / metabolic / genetics / hematology.

Warm reminder: Health education reference only; seek care at regular hospital.

Family room

儿科综合Overview of the Western Medical Room