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Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
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Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

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Rectal prolapse and cystic fibrosis

Khalil I El-Chammas1, Nisreen Rumman, Vi Lier Goh

  • 1*Mercy Medical Center, Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Des Moines, IA †Division of Pediatric Pulmonology, Department of Pediatrics, Makassed Hospital, Jerusalem, Israel ‡Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston University, Boston, MA §Division of Pediatric Pulmonology, Department of Pediatrics ||Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Medical College of Wisconsin, Milwaukee.

Journal of Pediatric Gastroenterology and Nutrition
|August 28, 2014
PubMed

Insights

Cystic fibrosis (CF) is rarely associated with rectal prolapse (RP). While newborn screening for CF is common, considering sweat chloride testing for children with RP may still identify rare CF cases.

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.

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