Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short

IF 5.4 3区材料科学 Q2 CHEMISTRY, PHYSICAL

ACS Applied Energy Materials Pub Date : 2024-03-01 DOI:10.1016/j.prrv.2023.08.004

Erin F. Kallam , Ajay S. Kasi , Eileen Barr , Rachel W. Linnemann , Lokesh Guglani

引用次数: 0

Abstract

Newborn screening (NBS) for cystic fibrosis (CF) has enabled earlier diagnosis and has improved nutritional and growth-related outcomes in children with CF. For those with a positive NBS for CF that do not meet the diagnostic criteria for CF, the clinical entity called CFTR-Related Metabolic Syndrome (CRMS) or CF Screen- Positive, Inconclusive Diagnosis (CFSPID) is used. Although most children with CRMS remain relatively asymptomatic, studies have shown that between 11% and 48% of these patients may eventually progress to a diagnosis of CF over time. Although the CF Foundation guidelines for CRMS management and European CF Society guidelines for CFSPID have some similarities, there are also some differences. Here, we review challenging case scenarios that highlight remaining gaps in CRMS guidelines, thus supporting the need to update and unify existing guidelines.

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CFTR 相关代谢综合征的诊断难题：指南的不足之处

新生儿囊性纤维化（CF）筛查（NBS）使诊断更早，并改善了 CF 患儿的营养和生长相关结果。对于新生儿囊性纤维化筛查（NBS）阳性但不符合囊性纤维化诊断标准的患儿，临床上称之为囊性纤维化相关代谢综合征（CFTR-Related Metabolic Syndrome，CRMS）或囊性纤维化筛查阳性、诊断不明确（CFSPID）。虽然大多数患有 CRMS 的儿童相对来说没有症状，但研究表明，随着时间的推移，这些患者中有 11% 到 48% 的人最终可能会被诊断为 CF。虽然 CF 基金会的 CRMS 管理指南与欧洲 CF 协会的 CFSPID 指南有一些相似之处，但也存在一些差异。在此，我们回顾了一些具有挑战性的病例，这些病例凸显了CRMS指南中仍存在的不足，从而支持了更新和统一现有指南的必要性。

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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来源期刊

ACS Applied Energy Materials Materials Science-Materials Chemistry

CiteScore

10.30

自引率

6.20%

发文量

1368

期刊介绍： ACS Applied Energy Materials is an interdisciplinary journal publishing original research covering all aspects of materials, engineering, chemistry, physics and biology relevant to energy conversion and storage. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrate knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important energy applications.