Diagnosing cystic fibrosis in patients with non-diagnostic results: The case for intestinal current measurements

Thorax

Volumn 65, Issue 7, 2010, Pages 575-576

  Clancy, J P ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN; CFTR PROTEIN, HUMAN;

CYSTIC FIBROSIS; DIAGNOSTIC PROCEDURE; EDITORIAL; ENZYME BLOOD LEVEL; GASTROINTESTINAL SYMPTOM; GENETIC SCREENING; HIRSCHSPRUNG DISEASE; HUMAN; ION CONDUCTANCE; LIVER DISEASE; LOWER RESPIRATORY TRACT; MALE INFERTILITY; MEASUREMENT; MUTATION; NEWBORN SCREENING; PANCREAS DISEASE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; RECTUM BIOPSY; RESPIRATORY TRACT DISEASE; UPPER RESPIRATORY TRACT; CELL MEMBRANE POTENTIAL; NOTE; PATHOPHYSIOLOGY; PHYSIOLOGY; RECTUM;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MEMBRANE POTENTIALS; RECTUM;

EID: 77955292469     PISSN: 00406376     EISSN: 14683296     Source Type: Journal    
DOI: 10.1136/thx.2010.140772     Document Type: Editorial

References (9)

1. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352:1992-2001.
2. Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153:S4-14.
3. Borowitz D, Parad RB, Sharp JK, et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009;155(6 Suppl):S106-16.
4. Wilschanski M, Dupuis A, Ellis L, et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 2006;174:787-94. (Pubitemid 44511660)
5. De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-35. (Pubitemid 44035145)
6. Derichs N, Sanz J, Von Kanel T. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax 2010;65:594-9.
7. Mall M, Hirtz S, Gonska T, Kunzelmann K. Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis. J Cyst Fibros 2004;3(Suppl 2):165-9. (Pubitemid 40045592)
8. Mall M, Kreda SM, Mengos A, et al. The deltaF508 mutation results in loss of CFTR function and mature protein in native human colon. Gastroenterology 2004;126:32-41. (Pubitemid 38040721)
9. Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 2009;106:18825-30.