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.
Related blog posts:
- Nutrition Guidelines for Cystic Fibrosis
- Complex Family of CFTR-Associated Disorders | gutsandgrowth
- N2U -Part 3: EoE, IBD, and Cystic Fibrosis | gutsandgrowth
- “Origins of Cystic Fibrosis Lung Disease” | gutsandgrowth
- Breaking down lung defenses in Cystic Fibrosis | gutsandgrowth
- Fluctuating Elastase Levels in Infants with Cystic Fibrosis …