In this post I link to and excerpt from two great resources on Cystic Fibrosis:
- The Cystic Fibrosis Foundation
- #1: Cystic Fibrosis Licked-ty Split with Dr. Whittney Warren
JULY 5, 2020 By JUSTIN BERK from The Curbsiders/Cribsiders
From the Podcast #1 show notes above, I learned:
- that approximately 1,000 newborns a year are born with cystic fibrosis
- that universal newborn screening in the United States for cystic fibrosis was only achieved in 2010
- that adults can have undiagnosed cystic fibrosis
- that “Older patients with undiagnosed CF often struggle with infections under some other label for years. These patients may have more mild forms of CF or rarer CFTR mutations (Elborn. Lancet. 2016).”
- that we should consider undiagnosed cystic fibrosis in adults with “Common presentations that include:
- Recurrent sinopulmonary infections
- Refractory, uncontrolled asthma
- Unexplained bronchiectasis
- Multiple episodes of pneumonia
- Frequent pancreatitis
- Male infertility with absence of the vas deferens”
- that cystic fibrosis should be diagnosed in newborns with an abnormal cystic fibrosis screen and in adults by obtaining a sweat chloride test.
- that “Patients with suspected CF should have their sweat test done in an accredited center by experienced technicians, as the accuracy and interpretation of tests can be operator dependent (LeGrys et al. J Pediatr. 2007).”
- After diagnosis of cystic fibrosis in a newborn or adult, the patient should be referred for genetic testing.