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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Niemann-Pick disease in children

小儿内科

Common symptoms

外周围血淋巴细...、震颤、肝脾肿大、食欲不振、语言发育迟缓、眼底樱桃红斑、智力减低、生长缓慢、学习困难、细胞酶活性异常

The pathology of disease

Niemann-Pick disease in children is lysosomal lipid storage; hepatosplenomegaly; neurodegeneration; foam cells; types A/B/C; supportive; enzyme/gene therapy selected; pediatric metabolic/genetics.

Symptoms

Hepatosplenomegaly; developmental regression; child; foam cells; pulmonary; supportive

Causes

SMPD1 (A/B); NPC1/2 (C); AR; Niemann-Pick; child.

Treatment

Supportive; miglustat for C; enzyme/gene selected; pediatric metabolic/genetics; no cure

Dept

Pediatrics / metabolic / medical genetics / pediatric neurology.

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

Family room

小儿内科Overview of the Western Medical Room