随着时间的推移，CFSPID病例中个性化药物的创新策略。

IF 4.7 3区医学 Q1 PEDIATRICS

Paediatric Respiratory Reviews Pub Date : 2023-09-01 DOI:10.1016/j.prrv.2023.06.001

J. Twynam-Perkins , A. Fall , J.W. Lefferts , D.S. Urquhart

引用次数: 0

摘要

我们提出了一个具有挑战性的案例，说明了具有不确定意义的CFTR突变的儿童的临床表现如何随着时间的推移而变化。该病例强调了确认CF诊断的进展，并强调了定期审查和监测该患者队列的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Paediatric Respiratory Reviews 医学-呼吸系统

CiteScore

12.50

自引率

0.00%

发文量

审稿时长

23 days

期刊介绍： Paediatric Respiratory Reviews offers authors the opportunity to submit their own editorials, educational reviews and short communications on topics relevant to paediatric respiratory medicine. These peer reviewed contributions will complement the commissioned reviews which will continue to form an integral part of the journal. Subjects covered include: • Epidemiology • Immunology and cell biology • Physiology • Occupational disorders • The role of allergens and pollutants A particular emphasis is given to the recommendation of "best practice" for primary care physicians and paediatricians. Paediatric Respiratory Reviews is aimed at general paediatricians but it should also be read by specialist paediatric physicians and nurses, respiratory physicians and general practitioners. It is a journal for those who are busy and do not have time to read systematically through literature, but who need to stay up to date in the field of paediatric respiratory and sleep medicine.