Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening

AimWe aimed to familiarise clinicians with the terms cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) and cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We also sought to highlight the monitoring and outcomes of children that match these designations. MethodsA literature review was performed by searching PubMed from its inception until 30 November 2022. All relevant articles were included in this narrative review. ResultsDespite the implementation of newborn screening programmes for cystic fibrosis (CF), the diagnosis remains uncertain in some newborn infants with elevated immunoreactive trypsinogen. In 2016, a unified definition for CRMS/CFSPID was established to categorise these children. While many of them remain healthy, a portion of these children may develop CF. As a result, it is crucial to monitor them regularly. ConclusionCRMS/CFSPID is a designation and not a diagnosis. Longer longitudinal studies are needed to shed light on the most appropriate follow-up of these children. Paediatricians need to be knowledgeable about this condition in order to administer proper care, and children should be in contact with their local CF centre.

Automated summary

The aim of this study was to familiarize clinicians with the terms cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) and cystic fibrosis screen positive inconclusive diagnosis (CFSPID), and to highlight the monitoring and outcomes of children with these designations. A literature review was performed to gather relevant articles, and the results showed that despite newborn screening programs for cystic fibrosis, the diagnosis remains uncertain for some infants. CRMS/CFSPID was established as a unified definition in 2016, but longer longitudinal studies are needed to determine the appropriate follow-up for these children. It is important for pediatricians to be knowledgeable about this condition and for children to be in contact with their local CF center.