Diagnostic Testing in Cystic Fibrosis - 06/02/16
Résumé |
Cystic Fibrosis (CF) is a rare, multisystem disease leading to significant morbidity and mortality. CF is caused by defects in the cystic fibrosis transmembrane conductance regulator protein (CFTR), a chloride and bicarbonate transporter. Early diagnosis and access to therapies provides benefits in nutrition, pulmonary health, and cognitive ability. Several screening and diagnostic tests are available to support a diagnosis. We discuss the characteristics of screening and diagnostic tests for CF and guideline-based algorithms using these tools to establish a diagnosis. We discuss classification and management of common “diagnostic dilemmas,” including the CFTR-related metabolic syndrome and other CFTR-associated diseases.
Le texte complet de cet article est disponible en PDF.Keywords : Cystic fibrosis, Diagnosis, Sweat chloride, Newborn screening, CRMS
Plan
| Disclosures: Dr J. Brewington has nothing to disclose. Dr J.P. Clancy has received contracted research support from Vertex Pharmaceuticals (VX12-770-115, VX12-809-105), ProQR (PQ010-002), the CFFT (Clancy14Y0, Clancy11CS0, Clancy14K1, Clancy14XX1, Clancy14XX0, Clancy14Y4, eICE-ID-10, CFFC-OB-11, AquADEKs-2-IP-12, SHIP14K0), and the NIH (R01HL116226), none of which directly conflicts with the information presented. |
Vol 37 - N° 1
P. 31-46 - mars 2016 Retour au numéro
Article précédent
- Innate and Adaptive Immunity in Cystic Fibrosis
- Emanuela M. Bruscia, Tracey L. Bonfield
- Diagnosis of Adult Patients with Cystic Fibrosis
- Jerry A. Nick, David P. Nichols
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