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Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
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Clinical features associated with a delayed diagnosis of cystic fibrosis

M McCloskey1, A O Redmond, A Hill

  • 1Paediatric Regional Cystic Fibrosis Centre, Belfast, Northern Ireland.

Respiration; International Review of Thoracic Diseases
|August 15, 2000
PubMed

Insights

Late diagnosis of cystic fibrosis (CF) is linked to specific genetic mutations and pancreatic function. Understanding these factors can improve early detection and management for CF patients.

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Pediatrics

Background:

  • Cystic Fibrosis (CF) is typically diagnosed within the first decade of life.
  • A subset of CF patients receive a diagnosis after age 10.
  • Investigating late-diagnosed CF cases provides insights into disease heterogeneity.

Purpose of the Study:

  • To examine the clinical and genetic characteristics of CF patients diagnosed after age 10.
  • To identify factors associated with delayed diagnosis in cystic fibrosis.

Main Methods:

  • Retrospective study of 103 living patients diagnosed with CF in Northern Ireland before 1983.
  • Analysis of 18 patients diagnosed after age 10.
  • Multiple regression analysis to correlate late diagnosis with clinical presentation, genotype (including R117H mutation), pancreatic sufficiency, and other factors.

Main Results:

  • All 18 late-diagnosed patients exhibited elevated sweat chloride levels (>70 mmol/l).
  • Late diagnosis showed a significant association with the R117H mutation (r(2) = 0.45) and pancreatic sufficiency (r(2) = 0.37).
  • A weaker correlation was observed between late diagnosis and pulmonary function (r(2) = 0.09).

Conclusions:

  • In Northern Ireland, late diagnosis of CF is primarily associated with pancreatic function and carriage of the R117H mutation.
  • These findings highlight specific genetic and physiological markers that may indicate a later presentation of CF.
Abstract

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