Related Experiment Videos
[Liver cirrhosis caused by alpha-1-antitrypsin deficiency]
Insights
Alpha-1-antitrypsin deficiency (AATD) can cause severe liver disease, including cirrhosis, in children. This case study highlights the SZ phenotype as a rare genetic factor in pediatric cirrhosis.
Area of Science:
- Hepatology
- Genetics
- Pediatrics
Background:
- Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that can lead to liver and lung disease.
- Cirrhosis in children is less common and requires thorough etiological investigation.
- The SZ phenotype of AATD is considered intermediate risk for lung disease but its association with severe liver disease is less understood.
Abstract:
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 biopsö 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.