Cystic fibrosis in the year 2020: A disease with a new face

Boeck, K. De

doi:10.1111/apa.15155

Cited by 232 publications

(200 citation statements)

References 53 publications

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“…It was quickly learned with IRT/DNA(CFTR) that the vast majority of CF cases can be presumptively (genetically) diagnosed within a week of birth from the initial blood specimen and valuable genetic data obtained to predict pancreatic functional status [33]. Later, the rapid genotyping capability of IRT/DNA (CFTR) screening also provided guidance for selection of CFTR modulators which can now be used to achieve organ preservation if begun early [34]. On the other hand, the CFTR multi-mutation tactic increases the number of incidental findings, particularly detection of CF heterozygote carriers, an increasingly important topic that is discussed in detail subsequently, and identification of those with CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis) [35,36], which is well reviewed elsewhere [37] and beyond the scope of this article.…”

Section: Improvements In Irt/dna Screening Protocolsmentioning

confidence: 99%

“…Pancreatic insufficiency and its sequelae (risk of malnutrition, recurrent pancreatitis, and diabetes mellitus) have always been considered a permanent component of CF for the majority of patients with susceptible genotypes. To most CF specialists' surprise, however, CFTR modulator therapy has been associated with at least partial preservation of pancreatic function in recent studies examining this issue [34,[84][85][86]. In fact, the weight gains of CF patients in the original trials of ivacaftor suggested its potential to reduce the detrimental impact of pancreatic insufficiency [28], and subsequent observations support this hypothesis [87][88][89].…”

Section: The Opportunities For Preventive Therapiesmentioning

confidence: 99%

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The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Farrell

Rock

Baker

2020

Genes

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Discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was the long-awaited scientific advance that dramatically improved the diagnosis and treatment of cystic fibrosis (CF). The combination of a first-tier biomarker, immunoreactive trypsinogen (IRT), and, if high, DNA analysis for CF-causing variants, has enabled regions where CF is prevalent to screen neonates and achieve diagnoses within 1–2 weeks of birth when most patients are asymptomatic. In addition, IRT/DNA (CFTR) screening protocols simultaneously contribute important genetic data to determine genotype, prognosticate, and plan preventive therapies such as CFTR modulator selection. As the genomics era proceeds with affordable biotechnologies, the potential added value of whole genome sequencing will probably enhance personalized, precision care that can begin during infancy. Issues remain, however, about the optimal size of CFTR panels in genetically diverse regions and how best to deal with incidental findings. Because prospects for a primary DNA screening test are on the horizon, the debate about detecting heterozygote carriers will likely intensify, especially as we learn more about this relatively common genotype. Perhaps, at that time, concerns about CF heterozygote carrier detection will subside, and it will become recognized as beneficial. We share new perspectives on that issue in this article.

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Section: Improvements In Irt/dna Screening Protocolsmentioning

confidence: 99%

Section: The Opportunities For Preventive Therapiesmentioning

confidence: 99%

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Farrell

Rock

Baker

2020

Genes

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“…Cystic fibrosis (CF) was once untreatable and deadly in childhood, but most patients now survive to adulthood. A review by De Boeck 5 provides a general update on CF, including screening and current and future treatment. It shows that CF research has greatly intensified following the discovery of the CF transmembrane conductance regulator (CFTR) gene, which has more than 2000 different mutations.…”

Section: Cystic Fibrosis Is a Disease With A New Face In The Year 2020mentioning

confidence: 99%

Highlights in this issue

Käll¹,

Lagercrantz²

2020

Acta Paediatrica

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investigated the impact that using a hospital dog for animal-assisted complementary therapy had on 50 children aged 3-18 in a paediatric surgical ward of a Swedish tertiary hospital. The mean age of the children who took part inthe study, which ran from 2016 to 2017, was 12 years. The result showed that the children's well-being increased and that they said that their hospital stay was improved by receiving animal-assisted therapy.

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“…Standard of care includes monitoring pulmonary function, nutritional status, airway clearance, and infection control [1]. Newer oral agents that are based on specific mutations are providing physicians with the ability to target underlying CFTR gene defects, thus leading to an increased life expectancy over 50 years [2] in patients with CF.…”

Section: Introductionmentioning

confidence: 99%

An investigation on parenting stress of children with cystic fibrosis

Continisio

Serra²,

Guillari³

et al. 2020

Ital J Pediatr

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Background: The management of chronic diseases, particularly in children, requires an integrated physical and psychological approach to both sick children and their family. This is the case of Cystic Fibrosis (CF), a complex genetic chronic disease, where, a comprehensive evaluation of the emotional impact and an effective multidimensional approach are indicated. Aim: This study investigates on parenting stress in children and adolescents with CF and its determinants related to parents, children and the disease severity. Methods: The study involved 34.04% adult males and 65.96% adult females (range 21-55 years) and 47 children with CF, 54.35% males and 45.65% females (range 1-17 years). The data were obtained through a Parenting Stress Index -Short Form (PSI-SF) questionnaire. According to the PSI-SF scoring system, three types of stress were detected: a typical stress pattern (normal), a high stress pattern (increased) and a defensive response, which may be considered as a high stress feature in children which requires monitoring and clinical evaluation. Results: This study shows a significant presence of stress in females (60.23%), of subject married (84.62%), unemployed (69.23%) and with education level such as "middle School" (61.54%). Concerning children of parents with high stress, it resulted most frequent children with one sibling (53.85%). Finally, by univariate analysis, it resulted a significant positive correlation between parenting stress and disease degree of children. Instead by multivariate analysis, we found that the variables: Number of siblings and Birth order were a significant positive and negative predictor of parenting stress respectively. Conclusion: An increased stress level was detected in less than one third of parents of subjects with CF. These data may be related to the psychological support which is part of the routine management of CF care team. However, as children's features seem to act as a determinant of stress more than parental ones, the parental-child dysfunction should be the target for further integrated interventions.

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Cystic fibrosis in the year 2020: A disease with a new face

Cited by 232 publications

References 53 publications

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Highlights in this issue

An investigation on parenting stress of children with cystic fibrosis

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