What is cystic fibrosis screen positive inconclusive diagnosis? And what is it not?

被引:0
|
作者
Devoy, Emily [1 ]
Hughes, Dominic [2 ,3 ]
Alharbi, Asma Falah [4 ,5 ]
Francis, Jacqueline [6 ]
Davies, Jane C. [6 ,7 ]
机构
[1] Chelsea & Westminster Hosp NHS Fdn Trust, London, England
[2] Kings Coll Hosp NHS Fdn Trust, Paediat Resp Med, London, England
[3] Imperial Coll London, Natl Heart & Lung Inst, London, England
[4] Imperial Coll London, London, England
[5] Prince Sultan Mil Coll Hlth Sci, Dept Resp Care, Dammam, Saudi Arabia
[6] Royal Brompton Hosp, London, England
[7] Imperial Coll London, Natl Heart & Lung Inst, London, England
来源
ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION | 2024年
关键词
Cystic Fibrosis; Child Health; Respiratory Medicine;
D O I
10.1136/archdischild-2023-326767
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Since screening for cystic fibrosis (CF) was incorporated into the newborn screening program, the number of recognised variants in the CF transmembrane conductance regulator (CFTR) gene has significantly increased. This has led to the discovery of combinations of gene variants with an uncertain prognosis. One outcome is the designation of 'cystic fibrosis screen positive inconclusive diagnosis' (CFSPID). While the majority of these children are expected to be unaffected by their CFTR variants, a small proportion have been seen to develop symptoms or increasing sweat chloride levels over time, which may reflect dysfunction of the CFTR protein. As the number of children with CFSPID increases, paediatricians and those working in primary care are more likely to encounter them in their practice. It is important that professionals have an understanding of CFSPID: what it is and, importantly, what it is not (ie, they do not have CF). In this article, we hope to explore this using some example cases, illustrating the ways in which these children may present symptomatically and how to manage them.
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页数:5
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