Complexity in Cystic Fibrosis Diagnosis

The availability of multiple diagnostic techniques for cystic fibrosis has increased the complexity and created areas of uncertainty.  A recent supplement (J Pediatr 2017; 181S: 1-55) delve into these issues.

“The diagnosis of CF has become increasingly complex, as CFTR mutations resulting in a wide spectrum of dysfunction have been increasingly identified.”

On page S6, 27 consensus recommendations are given.

The article S45-51, reviews cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS) and cystic fibrosis screen positive, inconclusive diagnosis (CFSPID).  Key points:

  • CRMS and CFSPID are equivalent entities with CRMS being the preferred terminology in the US
  • CRMS/CFSPID are relatively frequent; for every 3 to 5 cases of CF, there is one case of CRMS/CFSPID.
  • The majority of CRMS/CFSPID do NOT develop CF. Approximately 10-20% develop clinical features concerning for CF.

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