Pulmonary fibrosis is a condition that causes lung scarring and stiffness. It develops when the alveoli, tiny air sacs that transfer oxygen to the blood, become damaged and inflamed. Body tries to heal the damage with scars, but these scars collapse the alveoli and make the lungs less elastic. Changes in the lungs can also increase the blood pressure in the pulmonary artery. This condition, called pulmonary hypertension, makes the heart work harder and it may fail.
In Italy statistical analysis of pulmonary fibrosis were given result as bronchoalveolar lavage fluid analysis of the patients revealed absence of surfactant protein C, whereas the gene sequence was normal. By contrast, sequence of the ABCA3 gene showed a novel homozygous G > A transition at nucleotide 2891, localized within exon 21, resulting in a glycine to aspartic acid change at codon 964.