Cystic Fibrosis (CF): Clinical Presentation, Signs & Symptoms

00:01 So how do children present with cystic fibrosis? Most of them are asymptomatic but are picked up on the newborn screen, which is ubiquitous in the United States.

00:12 The newborn screen looks for the genetic defect that’s present in about 90% of these patients.

00:18 So we will know that they have cystic fibrosis very early.

00:22 That’s important because your prognosis is much better with early detection.

00:29 Twenty percent of infants will present with meconium ileus in infancy, and so we will pick up even more of the infants who were missed somehow on the newborn screen as a result of a meconium ileus early on in life.

00:43 Recurrent or persistent pulmonary infections may be a presentation for a minority of these patients.

00:50 If you see a patient who presents with recurrent pneumonia, you should be concerned about cystic fibrosis.

00:57 Patients under a year of age are more likely to present with GI symptoms than they are with respiratory symptoms, they may present with a pancreatitis, or steatorrhea, or even generalized edema, which is from a poor protein absorption inside the GI tract as a result of pancreatic insufficiency.

01:18 These patients will have a lower albumin and the oncotic pressures result in a generalized edema.

01:27 Commonly, these patients might present with failure to thrive and that may be the biggest clue.

01:32 Remember, nutritive care is incredibly important to these patients and in children who have untreated CF, they have a hard time absorbing those nutrients often because of their pancreatic insufficiency.

01:49 If there is significant delay in diagnosis, one might discover the sequelae of chronic lung disease.

01:57 Patients may have crackles on exam, decrease air entry, tachypnea, use of accessory muscles, a barrel-shaped chest, and hypoxia on exam.

02:09 Again, in infants under one, we should check for edema.

02:14 They may have nasal polyps.

02:16 Frequently, sinusitis is present in patients with cystic fibrosis.

02:20 Again, we remember that rectal prolapse.

02:23 And certainly if the respiratory symptoms have been going on for a very long time, we might be concerned about clubbing, and you may see that on your physical exam as is pictured on this slide.