Tuesday, December 2, 2014

Image of the Week 12/02/2014


Which genetic disorder would this X-ray of the lungs be associated with?

2 comments:

  1. This X-ray of the lungs shows numerous thick-walled bronchi consistent with bronchiectasis, a condition in which the lungs’ bronchi are abnormally dilated and damaged due to inflammation. Such an X-ray is associated with cystic fibrosis. Cystic fibrosis (CF) is an autosomal recessive genetic disease involving mutations of the CF transmembrane conductance regulator (CFTR) gene that affects the lungs, pancreas, small and large intestines, liver, salivary and sweat glands, and the male reproductive system. CF affects males and females equally. Caucasians are most affected by CF. CF is usually diagnosed early on in life, with 50% of CF patients diagnosed by 6 months of age and 85% by 6 years of age. An estimated 30,000 children and adults in the United States have CF, with 70,000 individuals affected with CF worldwide. CF diagnoses are based on laboratory evidence, which includes molecular genetic testing revealing 2 disease-causing mutations in the CFTR gene and 2 “sweat tests” or quantitative pilocarpine iontophoresis sweat chloride values of >60 mmol/L.

    Evidence of bronchiectasis on CT scans can be used to help diagnose cystic fibrosis. The presence of bronchiectasis on CT scans suggests progression of CF disease. It can also signify severe CFTR genotype, worsening neutrophilic inflammation, and pulmonary infection.

    Source for Image and Explanation:
    Gerard Ahern, MBBS, and Maurice Brygel, MBBS, DA, FRACS, Exploring Essential Radiology, 2014
    From: Pleural Cavity

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