An innovative strategy for personalised medicine in a CFSPID case that evolved with time

J Twynam-Perkins; A Fall; J W Lefferts; D S Urquhart

doi:10.1016/j.prrv.2023.06.001

An innovative strategy for personalised medicine in a CFSPID case that evolved with time

Paediatr Respir Rev. 2023 Sep:47:23-26. doi: 10.1016/j.prrv.2023.06.001. Epub 2023 Jun 17.

Authors

J Twynam-Perkins¹, A Fall², J W Lefferts³, D S Urquhart⁴

Affiliations

¹ Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh, UK; Department of Child Life and Health, University of Edinburgh, UK.
² Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh, UK.
³ Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands; Regenerative Medicine Center, Center for Living Technologies, University Medical Center Utrecht, Utrecht, the Netherlands.
⁴ Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh, UK; Department of Child Life and Health, University of Edinburgh, UK. Electronic address: don.urquhart@nhslothian.scot.nhs.uk.

PMID: 37407313
DOI: 10.1016/j.prrv.2023.06.001

Abstract

We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.

Keywords: CFTR modulators; N = 1 clinical trials; Organoids.

Publication types

Review

MeSH terms

Child
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Cystic Fibrosis* / diagnosis
Cystic Fibrosis* / genetics
Cystic Fibrosis* / therapy
Humans
Infant, Newborn
Mutation
Neonatal Screening
Precision Medicine

Substances

Cystic Fibrosis Transmembrane Conductance Regulator