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
Welcome to another episode in our Pulm PEEPs Fellows’ Case Files series! The purpose of this series is to highlight and amplify the incredible clinical work that is done by pulmonary and critical care fellows, share fascinating cases, and assemble a diverse network of pulmonary and critical care educators. Today we’re headed to Baylor College of Medicine to hear about a fascinating case. Tune in, let us know what you think on Twitter, and let us know if you have a great case to share!
Meet Our Guests
Benjamin Moss completed his internal medicine residency training at Baylor College of Medicine in Houston, Texas, and is currently a senior pulmonary and critical care fellow there.
Philip Alapat is an Assistant Professor of Medicine and the Program Director of the Pulmonary and Critical Care Fellowship at Baylor. He completed his residency and fellowship training all at Baylor.
Patient Presentation
A 60s-year-old man with seropositive RA on Rituximab presents with dyspnea and cough, and overall “not feeling well.” For the past week, he has had malaise, body aches, and subjective fever. For the past 3 days, he has had acutely worsening dyspnea that is worse with exertion, but present at rest and a cough with scant sputum production. He had been on Methotrexate previously but within the last year developed pancytopenia and MTX was stopped and he was switched to adalimumab/Humira. His pancytopenias did not resolve, and he was ultimately diagnosed with Felty syndrome (a triad of RA, neutropenia, and splenomegaly) and switched to rituximab every 6 months with his last dose being 4 months ago. During the last week, he tried taking prednisone 10 mg a day but his symptoms did not improve.
X-ray on presentation (L) X-ray 8 months ago (R)
Key Learning Points
**Spoilers Ahead** If you want to think through the case on your own we advise listening to the episode first before looking at these points.
It is Tuesday and time for another #RadiologyRounds!! This is a patient who presented to the emergency department with symptoms of cough, dyspnea, malaise, and weight loss. A PA and lateral CXR was obtained.
The Pulm PEEPs are joined again by Natalie West to discuss a patient who presented with a chronic, productive cough. Listen in today as we work through our differential diagnosis, interpret basic pulmonary testing, and share our clinical reasoning along the way. We have some fantastic diagnostic and treatment teaching points, so once you’ve solved the case check out the takeaways and infographics below. Please let us know any additional insights you have on Twitter!
Patient Presentation
A 50-year-old woman, who is a never smoker, with a past medical history of recurrent pancreatitis presents to the pulmonary clinic with a chronic, productive cough. Her cough has been present for 3 years and has increased in frequency to now being present daily. In the last three months, the cough has also worsened and is productive of small amounts of yellow to green sputum. She has a history of chronic post-nasal drip and sinus infections, and uses intranasal steroids, but has not noted changes in these symptoms. There is no significant family history of pulmonary disease, and an exposure history review of symptoms is negative.
On physical exam, she was a thin woman who appeared her stated age and was breathing comfortably on room air. Her exam was notable for mild expiratory wheezing, primarily on auscultation of the right posterior lung field. She had no cyanosis, clubbing, evidence of volume overload, or abdominal tenderness.
Basic Spirometry Values
Chest X-ray
Representative Images from CT Scan
Key Learning Points
**Spoilers Ahead** If you want to think through the case on your own we advise listening to the episode first before looking at the infographics below.
Differential Diagnosis of Chronic Cough
Three most common causes: upper airway cough syndrome, GERD, cough variant asthma
Additional etiologies to consider: chronic bronchitis, post-infectious after a respiratory tract infection, bronchiectasis, ACE inhibitors, lung cancer, eosinophilic bronchitis, interstitial lung disease
Imaging Pearl
Evaluating Bronchiectasis
Making a New Diagnosis of Cystic Fibrosis in an Adult
Sweat testing
Sweat testing should be done in CF accredited center. Inform patients that there are no needles involved. Pilocarpine and electrical stimulation are applied to the arm or leg to stimulate the sweat gland, and then sweat is collected on filter paper, a gauze, or a plastic coil. From there, the amount of chloride in the sweat is calculated
Results
< 30 normal
31 – 60 indeterminate
> 60 is positive and Cystic Fibrosis is likely
What do you do with an Indeterminate test?
Patients with milder phenotypes of Cystic Fibrosis can have a normal or indeterminate sweat chloride level, and 10% of adults diagnosed with CF have a normal sweat chloride. If the sweat chloride test is indeterminate or normal, but suspicion is high for CF, then genetic testing for the whole array of mutations should be performed
