Early diagnosis and intervention in cystic fibrosis: imagining the unimaginable

AM Coverstone, TW Ferkol - Frontiers in Pediatrics, 2021 - frontiersin.org
Cystic fibrosis is the most common life-shortening genetic disease affecting Caucasians,
clinically manifested by fat malabsorption, poor growth and nutrition, and recurrent …

Why do we screen newborn infants for cystic fibrosis?

J Barben, KW Southern - International journal of neonatal screening, 2020 - mdpi.com
The introduction and widespread implementation of newborn bloodspot screening (NBS) for
cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in …

Progress in treating cystic fibrosis means that many patients may now reach midlife and beyond

BM Kuehn - Jama, 2014 - jamanetwork.com
In the not-too-distant past, parents were counseled that children with cystic fibrosis were
unlikely to live past their teenage years. But a new estimate of patients' life spans suggests …

Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians

V Terlizzi, PM Farrell - Current Problems in Pediatric and Adolescent …, 2024 - Elsevier
During the past quarter century, the diagnosis and treatment of cystic fibrosis (CF) have
been transformed by molecular sciences that initiated a new era with discovery of the cystic …

Cystic fibrosis in the era of precision medicine

SM Paranjape, PJ Mogayzel Jr - Paediatric respiratory reviews, 2018 - Elsevier
The treatment of people with cystic fibrosis (CF) has been transformed by the availability of
drugs that target the basic chloride defect in the disease. The use of drugs that target specific …

Advances in the diagnosis and treatment of cystic fibrosis

SL Martiniano, JE Hoppe, SD Sagel… - Advances in …, 2014 - advancesinpediatrics.com
INTRODUCTION Cystic fibrosis (CF) is a genetic disorder that leads to chronic multisystem
disease consisting of chronic sinopulmonary infections, malabsorption, and nutritional …

Drug development for cystic fibrosis

DB Sanders, JF Chmiel - Pediatric Pulmonology, 2021 - Wiley Online Library
The first regulatory approval for a drug developed specifically for cystic fibrosis (CF)
occurred in 1993, and since then, several other drugs have been approved. Median …

The story of cystic fibrosis 1965–2015

J Massie, PJ Robinson… - Journal of Paediatrics and …, 2016 - Wiley Online Library
There have been dramatic changes in the care of children with cystic fibrosis (CF) from 1965
to 2015. The initial improvements were the result of incremental gains in medical knowledge …

Cystic fibrosis diagnosis in newborns, children, and adults

C Castellani, B Linnane, I Pranke… - … in respiratory and …, 2019 - thieme-connect.com
The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical
features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the …

Cystic fibrosis: a model system for precision medicine

SL Martiniano, SD Sagel… - Current opinion in …, 2016 - journals.lww.com
CFTR modulators promise to transform the therapeutic landscape in CF in a precision based
fashion. Areas of ongoing research include developing drugs for all mutation classes so that …