Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.

Cystic Fibrosis Diagnosis in Newborns, Children, and Adults. Semin Respir Crit Care Med. 2019 Nov 03;: Authors: Castellani C, Linnane B, Pranke I, Cresta F, Sermet-Gaudelus I, Peckham D Abstract 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 standard of modern CF care. CF NBS programs can identify CF prior to clinical presentation, but for the advantages of an early diagnosis to accrue a scrupulous system must be in place to ensure all steps in the program are performing. As we move rapidly into the era of CF transmembrane conductance regulator (CFTR) protein modulators, the opportunity to start a presymptomatic infant, identified through CF NBS, on these agents offers the prospect of true disease-modifying interventions which could result in a paradigm shift in CF care.Conversely, the introduction of NBS has resulted in many children being asymptomatic at the time of diagnosis. Some screened newborns are classified as "CF Screening Positive, Inconclusive Diagnosis", or "CFTR-related metabolic syndrome" when the diagnosis can neither be confirmed nor excluded. Appropriate assessment and follow-up should be arranged at specialist centers as a proportion of these infants and adults will eventually be diagnosed with CF.Symptoms and signs are particularly pertinent when considering a diagnosis of CF outside...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Semin Respir Crit Care Med Source Type: research

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Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
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Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
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