Tag Archives: Alpha 1 anti-trypsin deficiency

Radiology Rounds – 1/18/23

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We are back with our first #RadiologyRounds of 2023!

While chronic lung infections and infertility are overlapping symptoms for CF and Primary Ciliary Dyskinesia, the history of neonatal respiratory syndrome, ear infections and lower lobe bronchiectasis are most consistent with PCD

In up to 50% of people with PCD, you can get complete reversal of thoracic and abdominal organs. In this film you can see the heart in the right hemithorax, the gastric bubble on the right with the liver on the left resulting in elevation of the left hemidiaphragm

In patients with clinical symptoms and two decreased levels of nasal nitric oxide these findings suggest a PCD diagnosis but evaluation of the cilia structure and function as well as genetic testing are other diagnostic evaluations to confirm a diagnosis of PCD

Primary ciliary dyskinesia is a autosomal recessive disorder that results in motile ciliary dysfunction and clinical manifestations can vary depending on which organs are involved

Radiology Rounds – 5/3/22

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This week on #RadiologyRounds we continue our series on COPD. Make sure to listen to all our episodes made in collaboration with the ATS Clinical Problems Assembly.

The CT shows moderate to severe centrilobular emphysema. These different patterns of emphysematous changes on CT can be related to the underlying driver of the disease and to symptom and disease severity.

In terms of follow-up, would you test this patient for alpha 1 anti-trypsin deficiency?

Current GOLD guidelines recommend that everyone with COPD, regardless of age or ethnicity should be tested for alpha 1 anti-trypsin deficiency.