Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening

Ren, Clement L.; Fink, Aliza K.; Petren, Kristofer; Borowitz, Drucy; McColley, Susanna A.; Sanders, Don B.; Rosenfeld, Margaret; Marshall, Bruce C.

doi:10.1542/peds.2014-3698

Cited by 86 publications

(91 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We found the p.[Arg74Trp;Asp1270Asn] complex allele in a child originally classified as CFSPID,9 44 currently asymptomatic at the age of 5 years old and in a patient with and normal SCL and CBAVD (with a residual CFTR activity on NEC of 18.9%). The p.[Arg74Trp;Asp1270Asn] complex allele has been reported only in two asymptomatic subjects so far 17.…”

Section: Discussionmentioning

confidence: 79%

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

et al. 2016

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 79%

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

et al. 2016

View full text Add to dashboard Cite

“…The terms Cystic Fibrosis Transmembrane Conductance Regulator Metabolic Syndrome (CRMS) in the US and CF Screened Positive, Inconclusive Diagnosis (CFSPID) in Europe have been introduced to characterize the symptoms of these individuals (Table 1). 20,21 While the frequency of the diagnosis of CRMS/CFSPID depends on the NBS algorithm employed (Box 2) 22–25 both the CFF and European CF Society recommend that these individuals be followed at specialized CF centers. This population of patients is different than the patients who present clinically with some degree of CFTR dysfunction, such as congenital bilateral absence of the vas deferens (CBAVD), recurrent pancreatitis, or bronchiectasis; these patients are considered to have CFTR-related disorders (CFTR-RD) (Table 1).…”

Section: Incidencementioning

confidence: 99%

Background and Epidemiology

Sanders

Fink

2016

Pediatric Clinics of North America

View full text Add to dashboard Cite

SYNOPSIS Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Significant advances in therapies and outcomes have occurred for people with CF over the past 30 years. Many of these improvements have come about through the concerted efforts of the US CF Foundation and international CF societies, networks of CF care centers, and the worldwide community of care providers, researchers, and patients and families. Despite these gains, there are still hurdles to overcome to continue to improve the quality of life, reduce CF complications, prolong survival, and ultimately cure CF. This article reviews the epidemiology of CF, including trends in incidence and prevalence, clinical characteristics, common complications, and survival.

show abstract

“…NBS appears to increase the diagnosis rate of CFTR-related metabolic syndrome (CRMS); this disorder describes asymptomatic infants who have a positive CF NBS result and indeterminate diagnostic testing results. Using this CF Foundation consensus definition, 1,540 and 309 infants in the U.S. CF Foundation Patient Registry in 2010-2012 met the criteria for CF and CRMS, respectively (CF:CRMS ratio, 5:1), thus altering the dynamic makeup of the CF population (11). Even before the advent of universal NBS, the clinical phenotype of persons with CF had changed.…”

Section: Epidemiology and Changing Demographicsmentioning

confidence: 99%