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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Fabry disease in children

儿科综合

Common symptoms

出汗减少、丘疹、腹泻、眼睑浮肿、腹痛、抽搐、角膜混浊、反复发烧、肾功能衰竭

The pathology of disease

Fabry disease in children (Anderson-Fabry) is alpha-galactosidase A deficiency; X-linked; acroparesthesias; angiokeratomas; hypohidrosis; children; renal/cardiac/cerebral; ERT/chaperone; pediatric metabolism/genetics.

Symptoms

Acroparesthesias; angiokeratomas; hypohidrosis; child; X-linked; ERT/chaperone

Causes

GLA mutation; X-linked; Fabry; child.

Treatment

Enzyme replacement; migalastat; renal/cardiac/cerebral surveillance; pediatric metabolic/genetics; long-term

Dept

Pediatric metabolic / medical genetics / pediatric nephrology / pediatric cardiology.

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

Family room

儿科综合Overview of the Western Medical Room