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.
Alpha-1-Antitrypsin Deficiency: Key Features Analysis
This solution analyzes the provided statements regarding alpha-1-antitrypsin (A1AT) deficiency to determine the correct clinical and genetic features.
Statement 1: Neonatal Jaundice
Prolonged jaundice in the neonatal period is a known manifestation. It often indicates liver involvement, which can be severe in infants with A1AT deficiency, leading to cirrhosis.
Result: Correct
Statement 2: Pulmonary Emphysema
Pulmonary emphysema is the most common clinical manifestation in adults with A1AT deficiency. The lack of functional A1AT protein allows neutrophil elastase to damage lung tissue, leading to emphysema, typically starting in the lower lung zones.
Result: Correct
Statement 3: Panniculitis Association
While A1AT deficiency primarily affects the lungs and liver, certain types of panniculitis (inflammation of subcutaneous fat) are associated with the condition, although they occur less frequently.
Result: Correct
Statement 4: Inheritance Pattern
Alpha-1-antitrypsin deficiency is inherited primarily as an autosomal recessive disorder. Individuals require two copies of the deficient gene (e.g., PiZZ genotype) to develop the severe classic phenotype. Autosomal dominant inheritance is incorrect.
Result: Incorrect
Conclusion
Based on the analysis, statements 1, 2, and 3 are correct features of alpha-1-antitrypsin deficiency.
Therefore, the correct option is the one that includes statements 1, 2, and 3.
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)?
- Crigler-Najjar syndrome Type-I is inherited as an:
- 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:
