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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Pediatric alpha-1 antitrypsin deficiency

小儿内科

Common symptoms

出血倾向、肝脾肿大、嗜睡、桶状胸、呼吸困难、食欲不振、败血症、肝功能衰竭、恶心

The pathology of disease

Alpha-1 antitrypsin deficiency in children presents as neonatal cholestatic jaundice; cirrhosis; later emphysema; PiZZ; hepatology; liver transplant.

Symptoms

Neonatal jaundice; hepatomegaly; later emphysema; family history; PiZZ; elevated liver enzymes

Causes

SERPINA1 mutation; PiZZ; misfolded A1AT accumulation; liver injury.

Treatment

Supportive; avoid alcohol/smoking; liver transplant if decompensation; augmentation for lung; hepatology/genetics

Dept

Pediatrics / hepatology / pulmonology / genetics.

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

Family room

小儿内科Overview of the Western Medical Room