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Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis.
Significant clinical and physiologic improvements were observed on initiation of ivacaftor in a broad patient population, including reduced infection with P. aeruginosa and significant improvements in mucociliary clearance, gastrointestinal pH, and microbiome were observed, providing clinical mechanisms underlying the therapeutic benefit of ivACaftor.
Inhibition of amiloride-sensitive epithelial Na(+) absorption by extracellular nucleotides in human normal and cystic fibrosis airways.
Sustained inhibition of Na(+) transport in non-CF and CF airways by mucosal ATP and UTP is demonstrated and it is suggested that this effect is mediated by an increase of intracellular Ca(2+).
Modulation of Ca2+-Activated Cl− Secretion by Basolateral K+ Channels in Human Normal and Cystic Fibrosis Airway Epithelia
It is concluded that Ca2+-activated Cl− secretion in native human airway epithelia requires activation of Ca2-dependent basolateral K+ channels (hSK4) and co-activation of hKvLQT1 improves CaCC-mediated Cl− glands in native CF airways, and may have a therapeutic effect in the treatment of CF lung disease.
β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis.
β-adrenergic sweat secretion rate determined by evaporimetry is an accurate and reliable technique to assess different levels of CFTR function and to identify patients with CF.
Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening
A proportion of infants with CFSPID will be diagnosed with CF within the first 3 years of life, underscore the need for clinical monitoring, repeat sweat testing at age 2 to 3 years, and extensive genotyping.
Bacterial overgrowth, dysbiosis, inflammation, and dysmotility in the Cystic Fibrosis intestine.
Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group
A consensus among a panel of clinically active specialists caring for children with ARP and CP is developed to help guide the diagnostic evaluation and identify areas most in need of future research.