Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C &amp;rarr; T mutation

Augarten, A.; Yahav, Yaacov; Szeinberg, Amir; Noiman, Silvia; Gazit, Ephraim; Kerem, B-S.; Rivlin, Y.; Tal, Asher; Blau, Hannah; Bentur, Lea; Kerem, Eitan

doi:10.1016/0140-6736(93)91885-p

Cited by 140 publications

(70 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our fi ndings support earlier fi ndings that presence of these milder mutations corresponds to advanced age at diagnosis. 5,15,20,21 and is correlated with normal or indeterminate sweat chloride tests. 15,20,22 We surmise that the higher incidence of rare mutations in patients diagnosed as adults may contribute to the delay in diagnosis.…”

Section: Symptoms Leading To Diagnosismentioning

confidence: 99%

“…5,15,20,21 and is correlated with normal or indeterminate sweat chloride tests. 15,20,22 We surmise that the higher incidence of rare mutations in patients diagnosed as adults may contribute to the delay in diagnosis. In our study, 11% of patients diagnosed as adults with sweat tests reported had normal sweat chloride levels and 13.6% had intermediate levels, thus falling into the previously termed "nonclassic" CF defi nition.…”

Section: Symptoms Leading To Diagnosismentioning

confidence: 99%

See 1 more Smart Citation

Classic Respiratory Disease but Atypical Diagnostic Testing Distinguishes Adult Presentation of Cystic Fibrosis

Keating

Liu

DiMango

2010

Chest

View full text Add to dashboard Cite

Section: Symptoms Leading To Diagnosismentioning

confidence: 99%

Section: Symptoms Leading To Diagnosismentioning

confidence: 99%

Classic Respiratory Disease but Atypical Diagnostic Testing Distinguishes Adult Presentation of Cystic Fibrosis

Keating

Liu

DiMango

2010

Chest

View full text Add to dashboard Cite

“…However, the proposal to detect infants with CF with a class IV or V mutation by relying on the screen finding a class I, II, or III mutation from the other chromosome also relies on those infants having an elevated sweat Cl Ϫ level. Some individuals with class IV and V mutations can develop clinical symptoms [89][90][91][92][93] even in the absence of an elevated sweat Cl Ϫ concentration. Use of mutations associated with milder phenotypes may lead to results that are difficult to interpret and communicate in DNA testing of a family after positive NBS results.…”

Section: Cftr Mutations and Mild Diseasementioning

confidence: 99%

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

View full text Add to dashboard Cite

Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

show abstract

“…Group 3 included patients with partly functional CFTR, with at least one "mild" mutation, such as a missense mutation or splicing mutation, which creates cryptic splice sites. The 3849+10 kb C→T mutation [19,21] and the 3272-26 G→A mutation [22] found in the patients studied are examples of such "mild" mutations. Group 4 comprised patients with only one "severe" mutation or no identified mutation, after screening of the whole coding region of the CFTR gene.…”

Section: Classification Of Mutationsmentioning

confidence: 99%

Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients

Hubert¹,

Bienvenu²,

Desmazes-Dufeu³

et al. 1996

Eur Respir J

View full text Add to dashboard Cite

G Ge en no ot ty yp pe e--p ph he en no ot ty yp pe e r re el la at ti io on ns sh hi ip ps s i in n a a c co oh ho or rt t One hundred and ten adult CF patients were classified according to the expected effect of their mutations on cystic fibrosis transmembrane conductance regulator (CFTR) protein: Group 1 (n=48) included ∆F508 homozygotes; Group 2 (n=26), patients with two " "severe" " mutations and no expected CFTR production; Group 3 (n=17), patients with expected partly functional CFTR corresponding to at least one " "mild" " mutation; Group 4 (n=19), patients with no mutation identified or only one identified " "severe" " mutation.As compared to Groups 1 and 2: patients from Groups 3 and 4 had higher arterial oxygen tension (Pa,O 2 ) (9.5±1.9 and 9.9±1.5 vs 8.8±1.5 and 8.3±1.7 kPa, respectively p<0.02); and a slower decline in their pulmonary function, estimated by the mean annual loss in forced vital capacity (FVC) (1.2±1.0 and 1.5±1.1 vs 2.0±0.9 and 2.2±1.0%, respectively; p<0.01) and in forced expiratory volume in one second (FEV1) (1.7±1.1 and 1.9±1.3 vs 2.6±1.0 and 2.8±1.0%, respectively; p<0.005). They had fewer episodes of colonization of the airways by Pseudomonas aeruginosa, and colonization occurred at a more advanced age (median age 25 and 19 vs 15 and 17 yrs, respectively; p<0.01) and required fewer intravenous antibiotic courses (p<0.01). Pancreatic insufficiency was less frequent in Groups 3 (23%) and 4 (63%) than in Groups 1 (100%) and 2 (96%).This study suggests that the phenotype of adult cystic fibrosis patients, including the severity of the lung disease, is related to the severity of the cystic fibrosis transmembrane conductance regulator mutations.

show abstract

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C → T mutation

Cited by 140 publications

References 6 publications

Classic Respiratory Disease but Atypical Diagnostic Testing Distinguishes Adult Presentation of Cystic Fibrosis

Classic Respiratory Disease but Atypical Diagnostic Testing Distinguishes Adult Presentation of Cystic Fibrosis

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients

Contact Info

Product

Resources

About