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Chapter: Paediatrics: Gastroenterology and nutrition

Paediatrics: Alpha1-antitrypsin deficiency

Alpha1-antitrypsin is a serum protease inhibitor responsible for control-ling inflammatory cascades.

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.

 

Presentation

 

   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.

 

Diagnosis

   Serum A1-antitrypsin level d.

   Phenotyping by enzyme isoelectric focusing (see Alpha1-antitrypsin deficiency).

 

Treatment

 

   Supportive treatment of liver complications.

 

   Strongly advise against smoking.

 

   Liver transplant for end-stage liver failure.

 

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