CFSPID的囊性纤维化：护理负担与需求以及断奶治疗的合理方法。

IF 4.7 3区医学 Q1 PEDIATRICS Paediatric Respiratory Reviews Pub Date : 2023-09-01 DOI:10.1016/j.prrv.2023.07.002

S. Hadjisymeou Andreou, J.C. Davies

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引用次数: 0

摘要

我们提出了一个10岁男孩的病例，最初诊断为CF基于NBS的指导方针。然而，随着CF遗传学知识的进步，根据正常调查和良好的一般临床状况，他被重新归类为CFSPID，符合更新的CFSPID指南。该病例强调了根据对CFTR突变表型的最新了解以及患者的临床状态来审查CF诊断的重要性。为了确定将患者从繁重的CF治疗和管理中拯救出来的机会，我们回顾了当前的CFSPID指南，强调针对每个病例量身定制的护理。

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Cystic fibrosis to CFSPID: Burden of care vs need and rational approach to weaning therapies

We present a case of a 10-year-old boy initially diagnosed with CF based on NBS guidelines. However, as CF genetics knowledge has advanced, he has been reclassified as CFSPID based on normal investigations and excellent general clinical status, in line with updated CFSPID guidelines. This case highlights the significance of reviewing CF diagnoses according to the latest understanding of CFTR mutation phenotypes, as well as the patient's clinical status. In order to identify opportunities to save patients from burdensome CF treatment and management, we review current CFSPID guidelines, emphasizing care tailored to each individual case.

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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.