ePS04.8 Effect of early intervention with inhaled hypertonic saline on lung function in infants and toddlers with cystic fibrosis (CF) diagnosed by neonatal screening

Newborn screening for cystic fibrosis is universal across the United States; however, each state chooses the method by which they screen. Illinois employs a two-step process which includes the measurement of the immunoreactive trypsinogen followed by an assay designed to detect 74 of the most common genetic mutations in the cystic fibrosis transmembrane conductance regulator protein. We report the case of an infant born in Illinois with a positive cystic fibrosis newborn screening with an elevated immunoreactive trypsinogen and two genetic mutations identified (F508del/F508del). The primary care physician informed the parents their child had cystic fibrosis and referred her for a confirmatory sweat test which was negative for cystic fibrosis. Upon further investigation, the assay was found to have been set up incorrectly and repeat analysis identified the genotype F508del/F508C. This case highlights the importance of performing the confirmatory sweat test prior to making a diagnosis of cystic fibrosis.

Sweat test

Carrier testing

Pancreatic Disease

10.1177/2050313x20939421

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Citations (2)

P368 Parents’ experiences when their child is diagnosed with cystic fibrosis in the newborn screening program

Journal of Cystic Fibrosis (2020)

Pernille Brok Nielsen C.S. Jensen H.V. Olesen

10.1016/s1569-1993(20)30696-2

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Transition of lung function from infants to children with cystic fibrosis (CF), evaluated by whole-body plethysmography

Journal of Cystic Fibrosis (2010)

Richard Kraemer Chantal Cripe-Mamie W. Tennhoff Ueli Bühlmann Sabina Gallati

Plethysmograph

10.1016/s1569-1993(10)60221-4

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WS07.01 Investigating the effects of dornase alfa and hypertonic saline used in combination on lung function in people with cystic fibrosis

Journal of Cystic Fibrosis (2022)

E. Granger G. Davies R. Keogh

Hypertonic saline

10.1016/s1569-1993(22)00189-8

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Diagnosis of cystic fibrosis in the kindred of an infant with CFTR‐related metabolic syndrome: Importance of follow‐up that includes monitoring sweat chloride concentrations over time

Pediatric Pulmonology (2013)

Sophia Williams Eliezer Nussbaum Terry Chin Paul C.M.Kathryn E. Singh

Summary Newly implemented newborn screening (NBS) programs in California have resulted in a large subset of patients in whom at least two cystic fibrosis transmembrane conductance regulator ( CFTR) mutations are identified, but subsequent sweat chloride analysis reveals normal or indeterminate values. These patients are diagnosed with CFTR ‐Related Metabolic Syndrome (CRMS). However, the natural progression and management of these patients are not clearly understood and frequently after the age of 1‐year these patients are lost to follow‐up with Cystic Fibrosis (CF) Centers. We present the first case of an infant who was referred to Miller Children's Hospital for a NBS positive for CF and subsequent discovery of identical mutations in six of his seven older brothers. Several siblings had positive sweat chloride results on repeat testing after the age of 3 years. We suggest the need for continued follow‐up of CRMS in a CF center with diagnostic evaluation including repeat sweat chloride testing, beyond the currently recommended period. Pediatr Pulmonol. 2014; 49:E103–E108. © 2013 Wiley Periodicals, Inc.

Sweat test

10.1002/ppul.22918

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Citations (10)

P011 Cystic fibrosis – newborn screening (CF-NBS) start-up in Flanders (Belgium): report of first evaluation after two years

Journal of Cystic Fibrosis (2021)

Marijke Proesmans Luc Régal François Eyskens L. Roosens Lionel Marcélis

10.1016/s1569-1993(21)01038-9

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