LIVER-DISEASE IN INFANTS, CHILDREN AND THEIR RELATIVES WITH HOMOZYGOUS AND HETEROZYGOUS ALPHA-1-ANTITRYPSIN DEFICIENCY

Over a 6-year period 26 infants and children with homozygous (2 ZA and 6 ZZ) or heterozygous .alpha.1-antitrypsin deficiency (12 MZ, 6 MS) were observed prospectively and their families investigated. 7 of 8 homozygous patients had neonatal hepatitis, whereby 3 of these showed maximum transferase activitied during the 5th to 9th months of life. At the age of 7 years 2 of these patients were clinically normal, but only one patient had normal transferases. One patient had cirrhosis with portal hypertension at the age of 16 years 6 months; her nephew showed hypersplenism. Family studies revealed a further 5 relative of phenotype Z, 16 of phenotype MZ, 3 of phenotype SZ and 1 of phenotype MS; 6 of these had slightly elevated serum transferase activities. 6 patients of phenotype MZ and 2 patients of phenotype MS had neonatal hepatitis but generally with a much better prognosis than in homozygous patients. The other heterozygous patients (6 MZ and 4 MS) had a variety of additional factors determining the disease and the prognosis. Family studies showed a further 7 family members of phenotype MZ, and 2 of phenotype MS: 2 of these had slightly elevated transferase activities, 3 parents had hereditary hyperbilirubinaemia.