-Antitrypsin Deficiency and Neonatal Hepatitis

Alpha-1-Antitrypsin Deficiency and Liver Disease

“…Although it can have a lethal outcome, in most cases the icterus dis appears at about the age of 6-7 months. In children no common predisposing genetic fac tors have been identified to explain the poor outcome in the small number of cases, but hepatitis B surface antigen was found in the serum of 3 out of 5 homozygous infants, sug gesting that the antigen acts as a trigger factor in these cases [34]. In addition, a 2:1 male pre dominance is seen in children with liver dis ease.…”

The Liver in α₁-Antitrypsin Deficiency

“…Cirrhosis seems to be a late manifestation of the disease. Cholestatic jaundice with hepatomegaly often appears during the first year of life [53]; in some patients it has been misdiagnosed as 'neonatal hepatitis" [I, 2,47]; in others, no precise aetioiogical diagnosis has been made [19,23,25]. It is difficult at present to ascertain the frequency of this initial icteric episode.…”

“…Cirrhosis of the liver, as described in 1969 by Sharp et al [50], is the most frequent hepatic disorder associated with oq-AT deficiency [1,19,23,25,47]. Cirrhosis during oq-AT deficiency is not different from other forms of cirrhosis observed in children, and the usual complications of cirrhosis are observed [19,23,25,50,51].…”

“…Because of the small number of patients with a reasonably long-follow-up, the natural history of the disease in children is, as yet, poorly known. However, the succession of neonatal jaundice, free interval of variable duration, and cirrhosis should prompt a diagnosis of oq-AT deficiency [2,25], Such an evolution has been observed in 2 of 4 cases by Alper and Johnson [2] and in 3 of 5 cases by Porter et al [47] and is probably very frequent [51,53]; however, it does not seem to be inevitable, since 1 of the 3 sibs studied by G lasgow et al [23], although a homozygote ZZ, had no liver disease at the age of 14 years, in spite of an sq-AT de ficiency as severe as that of the two other patients.…”

“…data]. In some biopsy specimens, bile thrombi may be seen within liver cells [1,23], When cirrhosis is fully developed, mild [3,23,53] or extensive [1,22,25,47] bile ductular proliferation may be seen. Moderate steatosis may be present [5,10,24,42,43,45,53].…”