Highlights
- •Pseudomonas aeruginosa (Pa) isolation occurs frequently in asymptomatic CRMS/CFSPID.
- •Spontaneous clearance occurs frequently in CRMS/CFSPID Pa-positive infants.
- •Management can vary for CRMS/CFSPID Pa-positive infants.
- •Overmedication can occur in CRMS/CFSPID Pa-positive infants.
Abstract
Introduction
Evidence is currently lacking to guide the management of cystic fibrosis (CF) transmembrane
conductance regulator–related metabolic syndrome CF screen–positive inconclusive diagnosis
(CRMS/CFSPID) with Pseudomonas aeruginosa (Pa)–positive respiratory culture. This study assessed the clinical data, management,
and outcomes of an Italian cohort of CRMS/CFSPID infants with Pa isolated from their
airways.
Methods
Data of Pa-positive CRMS/CFSPID infants born between January 2011 and August 2018
and followed at five CF Italian centres were retrospectively extracted. Further data
were collected until June 2021 to assess outcomes, prevalence of subjects treated
with antimicrobials, and treatment type and duration.
Results
Forty-three asymptomatic CRMS/CFSPID patients (median age on 30 June 2021, 82 months;
interquartile range [IQR], 63–98 months) with at least one positive airway culture
for non-mucoid Pa (median age at first isolation, 18.7 months; IQR, 7–25 months) were
enrolled. Of them, 24 (55.8%) underwent anti-Pa therapy. Pa clearance occurred in
22 (91.6%) of 24 patients versus spontaneous clearance in 16 of 19 (84.2%) untreated
patients (chi-square, 0.5737; p = 0.44878). After a median follow-up of 6.2 years (IQR, 3.0–9.9), 7 (16.3%) were
diagnosed with CF after a pathological sweat test (median age, 43 months; IQR, 28–77
months), 3 (7%) developed recurrent pancreatitis or isolated bronchiectasis consistent
with CFTR-related disorder, and the CRMS/CFSPID classification remained in 33 (76.7%).
Conclusions
Pa detection frequently occurs in asymptomatic infants with CRMS/CFSPID but tends
to clear spontaneously. More studies are needed to determine if Pa isolation can predict
evolution.
Keywords
Abbreviations:
CF (cystic fibrosis), CFSPID (CF screen–positive inconclusive diagnosis), CFTR (cystic fibrosis transmembrane conductance regulator), CFTR-RD (CFTR-related disorder), CRMS (CFTR-related metabolic syndrome), MLPA (multiplex ligation-dependent probe amplification), NBS (newborn bloodspot screening), Pa (Pseudomonas aeruginosa), FEV1 (forced expiratory volume in 1 s), ST (sweat test)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: July 19, 2022
Accepted:
July 12,
2022
Received in revised form:
May 17,
2022
Received:
February 28,
2022
Identification
Copyright
© 2022 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
