PMID- 33257262 OWN - NLM STAT- MEDLINE DCOM- 20220207 LR - 20220207 IS - 1873-5010 (Electronic) IS - 1569-1993 (Linking) VI - 20 IP - 5 DP - 2021 Sep TI - Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). PG - 810-819 LID - S1569-1993(20)30909-7 [pii] LID - 10.1016/j.jcf.2020.11.006 [doi] AB - Over the past two decades there has been considerable progress with the evaluation and management of infants with an inconclusive diagnosis following Newborn Screening (NBS) for cystic Fibrosis (CF). In addition, we have an increasing amount of evidence on which to base guidance on the management of these infants and, importantly, we have a consistent designation being used across the globe of CRMS/CFSPID. There is still work to be undertaken and research questions to answer, but these infants now receive more consistent and appropriate care pathways than previously. It is clear that the majority of these infants remain healthy, do not convert to a diagnosis of CF in childhood, and advice on management should reflect this. However, it is also clear that some will convert to a CF diagnosis and monitoring of these infants should facilitate their early recognition. Those infants that do not convert to a CF diagnosis have some potential of developing a CFTR-RD later in life. At present, it is not possible to quantify this risk, but families need to be provided with clear information of what to look out for. This paper contains a number of changes from previous guidance in light of developing evidence, but the major change is the recommendation of a detailed assessment of the child with CRMS/CFSPID in the sixth year of age, including respiratory function assessment and imaging. With these data, the CF team can discuss future care arrangements with the family and come to a shared decision on the best way forward, which may include discharge to primary care with appropriate information. Information is key for these families, and we recommend consideration of a further appointment when the individual is a young adult to directly communicate the implications of the CRMS/CFSPID designation. CI - Copyright (c) 2020 European Cystic Fibrosis Society. All rights reserved. FAU - Barben, Jurg AU - Barben J AD - Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland. Electronic address: juerg.barben@kispisg.ch. FAU - Castellani, Carlo AU - Castellani C AD - Istituto Giannina Gaslini, IRCCS Istituto Giannina Gaslini, Genova, Italy. FAU - Munck, Anne AU - Munck A AD - CF referent physician for the French Society of Newborn Screening, Hopital Necker Enfants-Malades, AP-HP, CF centre, Universite Paris Descartes, France. FAU - Davies, Jane C AU - Davies JC AD - National Heart & Lung Institute, Imperial College London, UK; Royal Brompton and Harefield NHS Foundation Trust, London, UK. FAU - de Winter-de Groot, Karin M AU - de Winter-de Groot KM AD - Department of Paediatric Pulmonology & Allergology, Wilhelmina Children's Hospital/University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands. FAU - Gartner, Silvia AU - Gartner S AD - Pediatric Pulmonology and Cystic Fibrosis Unit, Hospital Universitari Vall d Hebron, Barcelona, Spain. FAU - Kashirskaya, Nataliya AU - Kashirskaya N AD - Laboratory of genetic epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation. FAU - Linnane, Barry AU - Linnane B AD - Graduate Entry Medical School and Centre for Interventions in Infection, Inflammation & Immunity (4i), University of Limerick, Limerick, Ireland. FAU - Mayell, Sarah J AU - Mayell SJ AD - Regional Paediatric CF Centre, Alder Hey Children's Hospital, Liverpool, UK. FAU - McColley, Susanna AU - McColley S AD - Department of Pediatrics, Northwestern University Feinberg School of Medicine, Stanley Manne Children's Research Institute, Ann and Robert H Lurie Children's Hospital of Chicago, USA. FAU - Ooi, Chee Y AU - Ooi CY AD - Discipline of Paediatrics, School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Australia; Department of Gastroenterology and Molecular and Integrative Cystic Fibrosis Research Centre, Sydney Children's Hospital, Randwick, NSW, Australia. FAU - Proesmans, Marijke AU - Proesmans M AD - Division of Woman and Child, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. FAU - Ren, Clement L AU - Ren CL AD - Department of Pediatrics, Indiana University School of Medicine, Division of Pediatric Pulmonology, Allergy and Sleep Medicine, Riley Hospital for Children, Indianapolis, USA. FAU - Salinas, Danieli AU - Salinas D AD - Department of Pediatric Pulmonology, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, USA. FAU - Sands, Dorota AU - Sands D AD - Cystic Fibrosis Department, Institute of Mother and Child, Warsaw, Poland. FAU - Sermet-Gaudelus, Isabelle AU - Sermet-Gaudelus I AD - Institut Necker Enfants Malades/INSERM U1151, Service de Pneumologie et Allergologie Pediatriques Centre de Reference Maladies Rares, Mucoviscidose et maladies de CFTR, Hopital Necker Enfants Malades Paris. Universite de Paris. ERN Lung, France. FAU - Sommerburg, Olaf AU - Sommerburg O AD - Paediatric Pulmonology, Allergology & CF Centre, Department of Paediatrics III, and Translational Lung Research Center, German Lung Research Center, University Hospital Heidelberg, Germany. FAU - Southern, Kevin W AU - Southern KW AD - Department of Women's and Children's Health, University of Liverpool, UK. CN - European CF Society Neonatal Screening Working Group (ECFS NSWG) LA - eng GR - DH_/Department of Health/United Kingdom PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20201127 PL - Netherlands TA - J Cyst Fibros JT - Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society JID - 101128966 RN - 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) SB - IM MH - Child MH - Cystic Fibrosis/*diagnosis/genetics/*therapy MH - Cystic Fibrosis Transmembrane Conductance Regulator/genetics MH - Diagnosis, Differential MH - Humans MH - Infant MH - Infant, Newborn MH - Metabolic Syndrome/*diagnosis/genetics/*therapy MH - Neonatal Screening/*methods OTO - NOTNLM OT - CFSPID OT - CRMS OT - Cystic fibrosis OT - Management OT - Newborn screening EDAT- 2020/12/02 06:00 MHDA- 2022/02/08 06:00 CRDT- 2020/12/01 05:45 PHST- 2020/08/10 00:00 [received] PHST- 2020/10/30 00:00 [revised] PHST- 2020/11/07 00:00 [accepted] PHST- 2020/12/02 06:00 [pubmed] PHST- 2022/02/08 06:00 [medline] PHST- 2020/12/01 05:45 [entrez] AID - S1569-1993(20)30909-7 [pii] AID - 10.1016/j.jcf.2020.11.006 [doi] PST - ppublish SO - J Cyst Fibros. 2021 Sep;20(5):810-819. doi: 10.1016/j.jcf.2020.11.006. Epub 2020 Nov 27.