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alpha-I antitrypsin enzyme deficiency in Indian childhood cirrhosis
Insights
Alpha-1 anti-trypsin (Alpha I-AT) enzyme deficiency is significantly more common in children with Indian Childhood Cirrhosis (ICC). This enzyme deficiency correlates with disease severity and may be inherited.
Area of Science:
- Hepatology
- Biochemistry
- Genetics
Background:
- Indian Childhood Cirrhosis (ICC) is a severe liver disease in children.
- Alpha-1 anti-trypsin (Alpha I-AT) is an enzyme that protects the lungs and liver from damage.
- The role of Alpha I-AT deficiency in ICC pathogenesis is not fully understood.
Purpose of the Study:
- To investigate the prevalence of Alpha I-AT enzyme deficiency in children with ICC.
- To correlate Alpha I-AT deficiency with disease severity and liver function.
- To explore the familial occurrence and inheritance pattern of Alpha I-AT deficiency in ICC.
Main Methods:
- Alpha-1 anti-trypsin activity was measured in 100 children with ICC and 50 healthy controls.
- Liver function tests were performed on participants.
- Family history of ICC and Alpha I-AT deficiency in first-degree relatives were assessed.
Main Results:
- Alpha I-AT deficiency was found in 39% of ICC cases versus 4% of controls.
- Deficiency was more prevalent in severe ICC (51.5%) than mild (17.6%) or moderate (38%).
- Enzyme-deficient patients had severely deranged liver function tests, with damage proportional to deficiency extent.
- Family history of ICC (20%) and deficiency in relatives (19.4%) were significantly higher in deficient cases.
Conclusions:
- Alpha-1 anti-trypsin enzyme deficiency is a significant risk factor for Indian Childhood Cirrhosis.
- The deficiency is linked to disease severity and poorer liver function.
- Evidence suggests an autosomal recessive inheritance pattern for Alpha I-AT deficiency in ICC families.
Abstract:
Antitrypsin activity was measured in 50 healthy controls and 100 cases of Indian Childhood Cirrhosis (ICC). The incidence of alpha-I anti-trypsin (Alpha I-AT) enzyme deficiency was strinkingly higher in cases of cirrhosis (39.0%) than in healthy controls (4%). The enzyme deficiency was more prevalent in severe grades of cirrhosis (51.5%) as compared to mild (17.6%) and moderate cirrhosis (38%). Liver function tests were severely deranged in enzyme deficient cirrhotics and the damage to the liver was directly proportional to the extent of the enzyme deficiency. The incidence of the family history of ICC was noted significantly higher in enzyme deficient cases (20%) as compared to non-deficient cases (3.3%). The enzyme deficiency was also measured in 160 first blood relatives of the deficient cirrhotics and was found to be deficient in 19.4% subjects. It is probable that the deficiency runs in families with an autosomal recessive mode of inheritance.