Alpha1-antitrypsin deficiency
Alpha1-antitrypsin is a
serum protease inhibitor responsible for control-ling inflammatory cascades.
•
It is
the commonest genetic cause of liver disease in children, with autosomal
dominant inheritance. Prevalence is 1:2000 to 1:7000.
•
Genetic
variants are identified by enzyme electrophoretic mobility as medium (M), slow
(S), or very slow (Z). S is associated with 760% Alpha1-antitrypsin
level of normal; Z 715%. Normal genotype is designated PiMM. Only PiZZ
individuals are at risk of liver disease.
•
Cholestasis
in infancy, may progress to liver failure.
•
Cirrhosis
can occur in late childhood to adult. Chronic liver disease affects 25% of
patients in late adulthood.
•
Pulmonary
emphysema is the commonest presentation in adulthood.
•
Serum A1-antitrypsin level d.
•
Phenotyping
by enzyme isoelectric focusing (see Alpha1-antitrypsin deficiency).
•
Supportive
treatment of liver complications.
•
Strongly
advise against smoking.
•
Liver
transplant for end-stage liver failure.
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