The authors present 2 patients with cirrhosis of the liver associated with alpha-1-antitrypsin deficiency. The patients are two children (brother and sister aged 4 and 13). The manifestation of the disease in these two children was a prolonged neonatal icterus. The symptoms of a decompensated cirrhosis of the liver appeared at the age of 2 and 4 years. There were several attacks of obstructive bronchitis etiologically associated with the same cause. The boy died at the age of four of hepatic coma preceded by several bleedings from esophageal varices. Splenectomy was performed in the girl on account of distinct signs of hyperplenism and two and a half years later mesentericocaval shunt because of the extensive bleeding from esophageal varices and the fundus of the stomach. The diagnosis of alpha-1-antitrypsin deficiency was made on the basis of low values in the serum and on the basis of liver biops? and findings of typical PAS positive inclusions in the endoplasmic reticulum of hepatocytes. The values of A1A parents are also lower. The finding of Pi phenotypification is significant--the SZ phenotype was found in two patients (brother and sister), which is seldom described in patients with cirrhosis of the liver.
Child Child, Preschool