- Home
- Medical books
- Pediatric pathology
- Paediatrics: Alpha1-antitrypsin deficiency
Paediatrics: Alpha1-antitrypsin deficiency
2021-03-04 12:00 AM
Alpha1-antitrypsin is a serum protease inhibitor responsible for controlling inflammatory cascades.
Alpha1-antitrypsin deficiency
Alpha1-antitrypsin is a serum protease inhibitor responsible for controlling 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%. The 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 from late childhood to adulthood. 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.