CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis

Definition

A condition identified in infants with hypertrypsinogenemia on newborn screening who have an inconclusive diagnosis, defined as having a sweat chloride value less than 60 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences, and who thus do not meet diagnostic criteria for cystic fibrosis (CF). CRMS is the designation used in the United States; CFSPID (CF screen positive, inconclusive diagnosis) is the international equivalent. A proportion of these infants may later develop CFTR-related symptoms.

Also known as CF screen positive, inconclusive diagnosis, CFSPID, CFTR-related metabolic syndrome, CRMS, CRMS/CFSPID — per MONDO