The definition of CRMS/CFSPID includes infants with a sweat chloride value between 30–59 mmol/L and zero or one CF-causing variant, or a sweat chloride value below 30 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences [8,9]. Here, CFTR is linked to CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis.