Rectal prolapse and cystic fibrosis

Area of Science:

• Medical research
• Pediatrics
• Genetics

Background:

• Rectal prolapse (RP) has been historically linked to cystic fibrosis (CF).
• The impact of widespread newborn screening for CF on this association is not well-defined.

Purpose of the Study:

• To investigate the prevalence of CF in patients with RP and RP in patients with CF.
• To assess the predictive factors for RP in CF patients.
• To evaluate the utility of sweat chloride testing in the current era of newborn screening.

Main Methods:

• Retrospective review of patient data.
• Analysis of demographic and clinical factors.
• Evaluation of diagnostic yield for sweat chloride testing.

Main Results:

• 3.6% of patients with RP were diagnosed with CF.
• 3.5% of patients with CF presented with RP.
• No specific factors predicted RP in CF patients.
• Sweat chloride testing has a low yield post-newborn screening but can detect rare CF cases.

Conclusions:

• A small but significant association exists between CF and RP.
• Newborn screening for CF has reduced the yield of sweat chloride testing for RP patients.
• Consideration of sweat chloride testing for RP in children remains important for identifying rare CF diagnoses.