Crigler-Najjar Syndrome Type-I Inheritance Pattern
Crigler-Najjar syndrome Type-I (CNSI) is a rare inherited metabolic disorder characterized by a severe defect in bilirubin conjugation.
Inheritance Mode: CNSI is inherited as an autosomal recessive disorder. This means that a person must inherit two copies of the mutated gene responsible for the disorder, one from each parent, to be affected.
Mechanism: The condition is caused by a near-complete deficiency of the enzyme UGT1A1 (UDP-glucuronosyltransferase 1A1), which is crucial for conjugating bilirubin in the liver. This deficiency leads to extremely high levels of unconjugated bilirubin in the blood, causing potential neurological damage (kernicterus).
Therefore, the inheritance pattern for Crigler-Najjar syndrome Type-I is autosomal recessive.
Important Questions from Liver Diseases
Which of the following are precipitating factors for hepatic encephalopathy ?
1. Hypokalemia
2. Septicemia
3. Increased dietary protein load
Select the correct answer using the code given below:
- Which one of the following statements is correct regarding Upper Gastro Intestinal Bleeding (UGIB)?
- Poorly absorbed antibiotics are often used as adjunctive therapies in patients with hepatic encephalopathy. These may include :
When the serum ascites to albumin gradient (SAAG) is less than 1.1 gm/dL, then which of the following causes of ascites may be considered?
1. Infection
2. Malignancy
3. Cardiac ascites
4. Portal hypertension
Select the correct answer using the code given below:
Which of the following are correct with regard to alpha-1-antitrypsin deficiency?
1. Prolonged jaundice in neonatal period
2. Pulmonary emphysema in adulthood
3. Panniculitis is seen rarely
4. Autosomal dominant disorder
Select the correct answer using the code given below.
