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A step forward for an intermediate cystic fibrosis population

Susan E. Birket
European Respiratory Journal 2022 60: 2201040; DOI: 10.1183/13993003.01040-2022
Susan E. Birket
Department of Medicine and Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, AL, USA
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Extract

Cystic fibrosis (CF) is a life-long and life-shortening disease, best treated with early interventions to prevent complications across multiple organs and to extend the lifespan of this population. In the USA and Europe, the diagnosis of CF occurs primarily through newborn screening [1]. Newborns with two defective copies of the cystic fibrosis transmembrane conductance regulator (Cftr) gene have elevated levels of immuno-reactive trypsinogen (IRT) in their serum. A high IRT result at birth triggers a confirmatory test for diagnosis that involves a functional assay, such as sweat chloride concentration measured by evaporimetry. Normal sweat chloride concentration by this method falls in a range of 29 mmol·L−1 or lower while a CF diagnosis is made when sweat chloride reaches values of 60 mmol·L−1 or higher [2]. However, some patients fall into an intermediate range with sweat chloride results ranging between 30 and 59 mmol·L−1. For these patients, it is not known if they are carriers of a mutation to the gene or if they have two mutated copies of the Cftr [3]. Because the rare mutations can be difficult to identify [4], this distinction is important.

Abstract

Thao Nguyen-Khoa and colleagues investigated the benefit of using beta-adrenergic (β-adr) sweat secretion (SST) measured by evaporimetry to determine the CFTR functional status, an important report that presents a useful novel method. https://bit.ly/3MEsHhc

Footnotes

  • Conflict of interest: S.E. Birket has nothing to disclose.

  • Received May 19, 2022.
  • Accepted June 2, 2022.
  • Copyright ©The authors 2022. For reproduction rights and permissions contact permissions{at}ersnet.org
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A step forward for an intermediate cystic fibrosis population
Susan E. Birket
European Respiratory Journal Aug 2022, 60 (2) 2201040; DOI: 10.1183/13993003.01040-2022

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A step forward for an intermediate cystic fibrosis population
Susan E. Birket
European Respiratory Journal Aug 2022, 60 (2) 2201040; DOI: 10.1183/13993003.01040-2022
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