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a1-antitrypsin deficiency (Diagnosis (History Prolonged neonatal…
a1-antitrypsin
deficiency
Pathophysiology
Defect
AR disorder
Mechanism
Reduced production of seriene protease A1T
Abnormal protein accumulated causing fibrosis and damage
Liver disease in children and emphysema in adults
Clinical
presentation
Prolonged jaundice
Haemorrhagic disease of
the newborn (rarely)
Diagnosis
History
Prolonged neonatal jaundice, haemorrhagic disease
Insidious SOB, SOB
Examination
Abdo: jaundice, hepatomegaly, later splenomegaly
Resp: pink, breathless, hyperinflation, reduced
breath sounds, hyperresonance
Investigations
Bedsode: obs
Bloods: FBC, U+E, LFT (may be deranged),
clotting, serum A1T (low)
Biopsy: A1T containing inclusions in hepatocytes
Management
Surgical
Liver transplant
Indication: end stage disease
Conservative
Information, advice, support
Lifestyle (smoking cessation, alcohol)
Prognosis
Emphysema cause of death in most
Variable severity
Complications
Lung
Emphysema
Liver
Cirrhosis
HCC
Definition
Inherited enzyme deficiency
affecting the lung and liver
Epidemiology
Rare
Commonest cause of liver
disease in children
Screening
Antenatal screening
Can screen antenatally if FH