Criteria for diagnosis of CFTR-related metabolic syndrome (CRMS) or cystic fibrosis screen positive, inconclusive diagnosis (CFSPID)

CRMS/CFSPID is a provisional diagnosis given to an asymptomatic infant with a positive newborn screening test for CF and either:

An intermediate sweat chloride value (30 to 59 mmol/L)* and fewer than 2 CF-causing gene mutations

Normal sweat chloride results (<30 mmol/L)* and 2 CFTR gene variants, at least 1 of which is not clearly categorized as CF-causing

CRMS: cystic fibrosis-related metabolic syndrome; CFSPID: cystic fibrosis screen positive, inconclusive diagnosis; CF: cystic fibrosis; CFTR: cystic fibrosis transmembrane regulator gene.
* As determined by sweat chloride testing on at least 2 occasions.

Data from: Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: Consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr 2017; 181S:S4.

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خرید پکیج

Criteria for diagnosis of CFTR-related metabolic syndrome (CRMS) or cystic fibrosis screen positive, inconclusive diagnosis (CFSPID)