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Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID)
  • +9
  • vito terlizzi,
  • Laura Claut,
  • Carla Colombo,
  • Antonella Tosco,
  • Alice Castaldo,
  • Benedetta Fabrizzi,
  • Marco Lucarelli,
  • Giuseppe Cimino,
  • Daniela Dolce,
  • Paolo Bonomi,
  • Silviana Timpano,
  • Rita Padoan
vito terlizzi
AOU Meyer

Corresponding Author:[email protected]

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Laura Claut
University of Milan
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Carla Colombo
University of Milan
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Antonella Tosco
University of Naples Federico II
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Alice Castaldo
Universita degli Studi di Napoli Federico II
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Benedetta Fabrizzi
Child Department, United Hospitals
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Marco Lucarelli
Sapienza University of Rome
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Giuseppe Cimino
"Sapienza" University of Rome
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Daniela Dolce
AOU Meyer
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Paolo Bonomi
Freelance statistician
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Silviana Timpano
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
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Rita Padoan
University of Brescia
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Abstract

Background: Reaching early and definitive diagnosis in infants with cystic fibrosis (CF) transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID) is a priority of all CF newborn screening programs. Currently, sweat testing is the gold standard for CF diagnosis or exclusion. We assessed outcomes in a cohort of Italian CRMS/CFSPID infants who underwent repeat sweat testing in the first year of life. Methods: This multicentre, prospective study analysed clinical data and outcomes in CRMS/CFSPID infants born between September 1, 2018 and December 31, 2019, and followed until June 30, 2020. All subjects underwent CF transmembrane conductance regulator (CFTR) gene sequencing and the search for CFTR macrodeletions/macroduplications, and repeat sweat testing in the first year of life. Results: Fifty subjects (median age at end of follow-up, 16 months [range, 7–21 months]) were enrolled. Forty-one (82%) had the first sweat chloride in the intermediate range. During follow up, 150 sweat tests were performed (range, 1–7/infant). After a median follow-up of 8.5 months (range 1–16.2 months), 11 (22%) subjects were definitively diagnosed as follows: CF (n=2 [4%]) at 2 and 5 months, respectively; healthy carrier (n=8 [16%]), at a median age of 4 months (range 2–8 months); and healthy (n=1 [2%]) at 2 months of age. Inconclusive diagnosis remained in 39 (78%) infants. Conclusions: Early repeat sweat testing in the first year of life can shorten the time to definitive diagnosis in screening positive subjects with initial sweat chloride levels in the intermediate range.
19 May 2021Submitted to Pediatric Pulmonology
19 May 2021Submission Checks Completed
19 May 2021Assigned to Editor
20 May 2021Reviewer(s) Assigned
20 Jun 2021Review(s) Completed, Editorial Evaluation Pending
22 Jun 2021Editorial Decision: Revise Major
30 Jul 20211st Revision Received
23 Aug 2021Assigned to Editor
23 Aug 2021Submission Checks Completed
23 Aug 2021Reviewer(s) Assigned
12 Sep 2021Review(s) Completed, Editorial Evaluation Pending
12 Sep 2021Editorial Decision: Revise Minor
13 Sep 20212nd Revision Received
14 Sep 2021Submission Checks Completed
14 Sep 2021Assigned to Editor
14 Sep 2021Reviewer(s) Assigned
15 Sep 2021Review(s) Completed, Editorial Evaluation Pending
15 Sep 2021Editorial Decision: Accept
Dec 2021Published in Pediatric Pulmonology volume 56 issue 12 on pages 3785-3791. 10.1002/ppul.25683