Revisiting a diagnosis of cystic fibrosis – Uncertainties and considerations

Autor:	I M, Balfour-Lynn, M, Puckey, N J, Simmonds, J C, Davies
Rok vydání:	2022
Předmět:	Adult Pulmonary and Respiratory Medicine Neonatal Screening Cystic Fibrosis Pediatrics Perinatology and Child Health Infant Newborn Cystic Fibrosis Transmembrane Conductance Regulator Humans Genetic Testing Child
Zdroj:	Paediatric Respiratory Reviews. 42:29-34
ISSN:	1526-0542
DOI:	10.1016/j.prrv.2021.11.002
Popis:	There is now increased knowledge and experience of newborn screening around the world. There is also a better understanding of CF gene analysis, informed by international databases. This has resulted in a small number of children and adults having their diagnosis of CF reversed. This article illustrates this issue with three cases. It considers how best to tell children and adults with their families, and the reactions that may be encountered. It also discusses practical issues of removing the diagnosis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce38ec2ebf752504ed479043c100830d https://doi.org/10.1016/j.prrv.2021.11.002 Zobrazit plný text záznamu Full Text from ScienceDirect