Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator‐related metabolic syndrome (CRMS)/CF screen‐positive, inconclusive diagnosis (CFSPID)

2021 ◽  
Author(s):  
Vito Terlizzi ◽  
Laura Claut ◽  
Carla Colombo ◽  
Antonella Tosco ◽  
Alice Castaldo ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Sweat Testing ◽  
Cystic Fibrosis Transmembrane

scholarly journals International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

2022 ◽  
Vol 8 (1) ◽  
pp. 5
Author(s):  
Jane Chudleigh ◽  
Jürg Barben ◽  
Clement L. Ren ◽  
Kevin W. Southern
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Health Professionals ◽  
Online Survey ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Online Questionnaire ◽  
The Us ◽  
The Uk ◽  
Cystic Fibrosis Transmembrane

The main aim of the present study was to explore health professionals’ reported experiences and approaches to managing children who receive a designation of cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive inconclusive diagnosis following a positive NBS result for cystic fibrosis. An online questionnaire was distributed via Qualtrics Survey Software and circulated to a purposive, international sample of health professionals involved in managing children with this designation. In total, 101 clinicians completed the online survey: 39 from the US, six from Canada, and 56 from Europe (including the UK). Results indicated that while respondents reported minor deviations in practice, they were cognizant of recommendations in the updated guidance and for the most part, attempted to implement these into practice consistently internationally. Where variation was reported, the purpose of this appeared to be to enable clinicians to respond to either clinical assessments or parental anxiety in order to improve outcomes for the child and family. Further research is needed to determine if these findings are reflective of both a wider audience of clinicians and actual (rather than reported) practice.

scholarly journals International Approaches to Management of CFTR-Related Metabolic Syndrome / Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

2021 ◽  
Author(s):  
Jane Chudleigh ◽  
Jürg Barben ◽  
Clement L Ren ◽  
Kevin W Southern
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Health Professionals ◽  
Online Survey ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Online Questionnaire ◽  
The Us ◽  
The Uk ◽  
Cystic Fibrosis Transmembrane

The main aim of the present study was to explore health professionals’ reported experiences and approaches to managing children who receive a designation of cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive inconclusive diagnosis following a positive NBS result for cystic fibrosis. An online questionnaire was distributed via Qualtrics Survey Software and circulated to a purposive, international sample of health professionals involved in managing children with this designation. In total, 101 clinicians completed the online survey; 39 from the US, six from Canada and 56 from Europe (including the UK). Results indicated that while respondents reported minor deviations in practice, they were cognizant of recommendations in the updated guidance and for the most part, attempted to implement these into practice consistently internationally. Where variation was reported, the purpose of this appeared to be to enable clinicians to respond to either clinical assessments or parental anxiety in order to improve outcomes for the child and family. Further research is needed to determine if these findings are reflective of both a wider audience of clinicians and actual (rather than reported) practice.

Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome

2011 ◽  
Vol 46 (11) ◽  
pp. 1079-1084 ◽  
Author(s):  
Clement L. Ren ◽  
Harsh Desai ◽  
Mary Platt ◽  
Marissa Dixon
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Clinical Outcomes ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

scholarly journals Recurrent Cough and Expectoration for 10 Years: A Case Report

2019 ◽  
Vol 6 ◽  
pp. 2333794X1983372
Author(s):  
Ting Huang ◽  
Caihong Li ◽  
Daishun Liu
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Mutation ◽  
Definitive Diagnosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Children's Hospital ◽  
Children’S Hospital ◽  
Sweat Testing ◽  
Tract Infections ◽  
Cystic Fibrosis Transmembrane

Rationale. Most cases of cystic fibrosis occur in Europe, with only a few occurring in Asia. Pulmonary cystic fibrosis is not a rare disease, but in children it is a potentially life-threatening condition. Children suffering from pulmonary cystic fibrosis rarely survive to adulthood, and responses to treatment are generally poor. The most common cause of cystic fibrosis is a genetic mutation on chromosome 7. Patient concerns. A 15-year-old boy with healthy parents suffered from a recurrent cough and expectoration for nearly 10 years. Six years previously, a definitive diagnosis of pulmonary cystic fibrosis and hepatic cirrhosis was made at the Beijing Children’s Hospital. The first occurrence of hematemesis occurred 1 year ago. The main symptoms, which caused this period of hospitalization, were cough, expectoration, and hematemesis. Diagnoses. The underlying cause was finally determined to be the cystic fibrosis transmembrane conductance regulator gene (p.G970D). After genetic and sweat testing performed at the Beijing Children’s Hospital in 2012, a definitive diagnosis of cystic fibrosis was made. Interventions. The patient was administered hemostatic treatment, antibiotics, and cough relief and sputum reduction therapy. Outcomes. The patient’s condition rapidly improved and continued to remain stable, though future relapse is possible following respiratory tract infections. Lessons. This case indicates that in the case of any child that presents a recurrent cryptogenic cough and expectoration, whether accompanied by hematemesis or not, pulmonary cystic fibrosis should be considered. In order to determine underlying causes and prepare for cystic fibrosis transmembrane conductance regulator modulator therapy, genetic and sweat testing are recommended to be conducted if available.

scholarly journals Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

2017 ◽  
Vol 181 ◽  
pp. S45-S51.e1 ◽  
Author(s):  
Clement L. Ren ◽  
Drucy S. Borowitz ◽  
Tanja Gonska ◽  
Michelle S. Howenstine ◽  
Hara Levy ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane
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