A 7yo child presented with chronic cough and is also found to be jaundiced on examination.
What is the most likely dx?
a. Congenital diaphragmatic hernia
b. Congenital cystic adenematoid malformation
c. Bronchiolitis
d. RDS
e. Alpha 1 antitrypsin deficiency
answer: E
A1AT is a protein made by cells in the liver. It passes out from the liver into the bloodstream and can travel to the lungs. Its main function is to protect the lungs from damage caused by other types of proteins called enzymes.
In order to develop A1AT deficiency, a person has to have two copies of the faulty gene on chromosome 14 - they have to have inherited a copy of the faulty gene from both of their parents.
Clinical picture: Lung and Liver symptoms