FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 336:487-491 February 13, 1997 Number 7 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Cystic fibrosis is an autosomal recessive disease caused by mutations of a gene located on the long arm of chromosome 7.¹ The gene product is the 1480-amino-acid cystic fibrosis transmembrane conductance regulator (CFTR), a protein that normally regulates and participates in the transport of electrolytes across epithelial-cell membranes and probably across intracellular membranes as well.² Recent advances in genetics and molecular biology have led to the introduction of new tests for cystic fibrosis and to a reconsideration of the spectrum of the disease.

Although the primary manifestations are presumably related, at least in part, to abnormal transport of electrolytes, the . . . [Full Text of this Article]

Laboratory Tests

Sweat Testing

Genotyping

Semen Analysis

Sinus Radiographs

Tests of Exocrine Pancreatic Function

Nasal Potential-Difference Measurements

Bronchoalveolar Lavage

Correlation of Genotype and Phenotype

Rational Use of Clinical Signs and Laboratory Tests to Diagnose (Or Rule Out) Cystic Fibrosis

Relation of Cystic Fibrosis to Congenital Absence of the Vas Deferens

Conclusions

Source Information

From the LeRoy W. Matthews Cystic Fibrosis Center; the Department of Pediatrics, Case Western Reserve University; and Rainbow Babies and Children's Hospital, University Hospitals of Cleveland — all in Cleveland.

Address reprint requests to Dr. Stern at University Hospitals of Cleveland, 11100 Euclid Ave., Cleveland, OH 44106.

References

This article has been cited by other articles:

• Batal, I., Ericsoussi, M.-B., Cluette-Brown, J. E., O'Sullivan, B. P., Freedman, S. D., Savaille, J. E., Laposata, M. (2007). Potential Utility of Plasma Fatty Acid Analysis in the Diagnosis of Cystic Fibrosis. Clin. Chem. 53: 78-84 [Abstract] [Full Text]  
• Rosen, M. J. (2006). Chronic Cough Due to Bronchiectasis: ACCP Evidence-Based Clinical Practice Guidelines. Chest 129: 122S-131S [Abstract] [Full Text]  
• Rossi, U G, Owens, C M (2005). The radiology of chronic lung disease in children. Arch. Dis. Child. 90: 601-607 [Abstract] [Full Text]  
• Sermet-Gaudelus, I., Dechaux, M., Vallee, B., Fajac, A., Girodon, E., Nguyen-Khoa, T., Marianovski, R., Hurbain, I., Bresson, J. L., Lenoir, G., Edelman, A. (2005). Chloride Transport in Nasal Ciliated Cells of Cystic Fibrosis Heterozygotes. Am. J. Respir. Crit. Care Med. 171: 1026-1031 [Abstract] [Full Text]  
• Kraemer, R., Blum, A., Schibler, A., Ammann, R. A., Gallati, S. (2005). Ventilation Inhomogeneities in Relation to Standard Lung Function in Patients with Cystic Fibrosis. Am. J. Respir. Crit. Care Med. 171: 371-378 [Abstract] [Full Text]  
• Ellaffi, M., Vinsonneau, C., Coste, J., Hubert, D., Burgel, P.-R., Dhainaut, J.-F., Dusser, D. (2005). One-year Outcome after Severe Pulmonary Exacerbation in Adults with Cystic Fibrosis. Am. J. Respir. Crit. Care Med. 171: 158-164 [Abstract] [Full Text]  
• Whitcomb, D C (2004). Value of genetic testing in the management of pancreatitis. Gut 53: 1710-1717 [Full Text]  
• Corvol, H., Fitting, C., Chadelat, K., Jacquot, J., Tabary, O., Boule, M., Cavaillon, J.-M., Clement, A. (2003). Distinct cytokine production by lung and blood neutrophils from children with cystic fibrosis. Am. J. Physiol. Lung Cell. Mol. Physiol. 284: L997-L1003 [Abstract] [Full Text]  
• Kurlandsky, L. E. (2002). Failure to Recognize the Association of Cystic Fibrosis and Metabolic Alkalosis. CLIN PEDIATR 41: 715-719  
• Lyczak, J. B., Cannon, C. L., Pier, G. B. (2002). Lung Infections Associated with Cystic Fibrosis. Clin. Microbiol. Rev. 15: 194-222 [Abstract] [Full Text]  
• Loubieres, Y., Grenet, D., Simon-Bouy, B., Medioni, J., Landais, P., Ferec, C., Stern, M. (2002). Association Between Genetically Determined Pancreatic Status and Lung Disease in Adult Cystic Fibrosis Patients. Chest 121: 73-80 [Abstract] [Full Text]  
• Wilschanski, M., Famini, H., Strauss-Liviatan, N., Rivlin, J., Blau, H., Bibi, H., Bentur, L., Yahav, Y., Springer, H., Kramer, M.R., Klar, A., Ilani, A., Kerem, B., Kerem, E. (2001). Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 17: 1208-1215 [Abstract] [Full Text]  
• CIABATTONI, G., DAVI, G., COLLURA, M., IAPICHINO, L., PARDO, F., GANCI, A., ROMAGNOLI, R., MACLOUF, J., PATRONO, C. (2000). In Vivo Lipid Peroxidation and Platelet Activation in Cystic Fibrosis. Am. J. Respir. Crit. Care Med. 162: 1195-1201 [Abstract] [Full Text]  
• WANG, J., BOWMAN, M. C, HSU, E., WERTZ, K., WONG, L.-J. C (2000). A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J. Med. Genet. 37: 215-218 [Full Text]  
• WITKO-SARSAT, V., LESAVRE, P., LOPEZ, S., BESSOU, G., HIEBLOT, C., PRUM, B., NOËL, L. H., GUILLEVIN, L., RAVAUD, P., SERMET-GAUDELUS, I., TIMSIT, J., GRÜNFELD, J.-P., HALBWACHS-MECARELLI, L. (1999). A Large Subset of Neutrophils Expressing Membrane Proteinase 3 Is a Risk Factor for Vasculitis and Rheumatoid Arthritis. J. Am. Soc. Nephrol. 10: 1224-1233 [Abstract] [Full Text]  
• Chmiel, J. F., Drumm, M. L., Konstan, M. W., Ferkol, T. W., Kercsmar, C. M. (1999). Pitfall in the Use of Genotype Analysis as the Sole Diagnostic Criterion for Cystic Fibrosis. Pediatrics 103: 823-826 [Abstract] [Full Text]  
• Ren, C. L., Sharer, N., Schwartz, M., Cohn, J. A., Silverman, L. M., Knowles, M. R. (1999). Mutations of the Cystic Fibrosis Gene and Pancreatitis. NEJM 340: 238-239 [Full Text]  
• Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., Super, M., Braganza, J. (1998). Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis. NEJM 339: 645-652 [Abstract] [Full Text]  
• Cohn, J. A., Friedman, K. J., Noone, P. G., Knowles, M. R., Silverman, L. M., Jowell, P. S. (1998). Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic Pancreatitis. NEJM 339: 653-658 [Abstract] [Full Text]  
• Heine, R. G, Button, B. M, Olinsky, A., Phelan, P. D, Catto-Smith, A. G (1998). Gastro-oesophageal reflux in infants under 6 months with cystic fibrosis. Arch. Dis. Child. 78: 44-48 [Abstract] [Full Text]