Diagnosis of Cystic Fibrosis in Screened Populations

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• 作者：Philip M. Farrell ; MD ; PhD¹ ; Terry B. White ; PhD² ; Michelle S. Howenstine ; MD³ ; Anne Munck ; MD⁴ ; Richard B. Parad ; MD ; MPH⁵ ; Margaret Rosenfeld ; MD ; MPH⁶ ; Olaf Sommerburg ; MD⁷ ; Frank J. Accurso ; MD⁸ ; Jane C. Davies ; MBChB ; FRCPCH ; MD⁹ ; Michael J. Rock ; MD¹ ; Don B. Sanders ; MD ; MS¹⁰ ; Michael Wilschanski ; MBBS¹¹ ; Isabelle Sermet-Gaudelus ; MD ; PhD¹² ; Hannah Blau ; MBBS¹³ ; Silvia Gartner ; MD¹⁴ ; Susanna A. McColley ; MD¹⁵
• 关键词：CF screen positive ; inconclusive diagnosis ; CFTR-related metabolic syndrome ; immunoreactive trypsinogen ; intestinal current measurement ; nasal potential difference ; newborn screening ; pancreatitis associated protein ; sweat test
• 刊名：The Journal of Pediatrics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：181
• 期：supp_S
• 页码：S33-S44.e2
• 全文大小：337 K
• 卷排序：181

文摘

Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening (NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS protocols, misunderstandings about screening vs diagnostic tests, and the lack of guidelines for presumptive diagnoses. There is also confusion regarding the designation of age at diagnosis.Study designTo improve diagnosis and achieve standardization in definitions worldwide, the CF Foundation convened a committee of 32 experts with a mission to develop clear and actionable consensus guidelines on diagnosis of CF with an emphasis on screened populations, especially the newborn population. A comprehensive literature review was performed with emphasis on relevant articles published during the past decade.ResultsAfter reviewing the common screening protocols and outcome scenarios, 14 of 27 consensus statements were drafted that apply to screened populations. These were approved by 80% or more of the participants.ConclusionsIt is recommended that all diagnoses be established by demonstrating dysfunction of the CF transmembrane conductance regulator (CFTR) channel, initially with a sweat chloride test and, when needed, potentially with newer methods assessing membrane transport directly, such as intestinal current measurements. Even in babies with 2 CF-causing mutations detected via NBS, diagnosis must be confirmed by demonstrating CFTR dysfunction. The committee also recommends that the latest classifications identified in the Clinical and Functional Translation of CFTR project [http://www.cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis.