Potential utility of plasma fatty acid analysis in the diagnosis of cystic fibrosis

Clinical Chemistry

Volumn 53, Issue 1, 2007, Pages 78-84

  Batal, Ibrahim ^a   Ericsoussi, Mhd Bassel ^a   Cluette Brown, Joanne E ^a   O'Sullivan, Brian P ^b   Freedman, Steven D ^c   Savaille, Juanito E ^a   Laposata, Michael ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b University of Massachusetts   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FATTY ACID;

ADOLESCENT; ADULT; ARTICLE; CALCULATION; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; FATTY ACID BLOOD LEVEL; FEMALE; GAS CHROMATOGRAPHY; HUMAN; MALE; MASS SPECTROMETRY; MATHEMATICAL ANALYSIS; PARAMETER; SINGLE BLIND PROCEDURE; UNITED STATES;

ADOLESCENT; ADULT; CYSTIC FIBROSIS; FATTY ACIDS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MALE; PLASMA;

EID: 33846009841     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.077008     Document Type: Article

References (28)

1. Freedman SD, Blanco PG, Zaman MM, Shea JC, Ollero M, Hopper IK, et al. Association of cystic fibrosis with abnormalities in fatty acid metabolism. N Engl J Med 2004;350:560-9.
2. Lepage G, Levy E, Ronco N, Smith L, Galeano N, Roy CC. Direct transesterification of plasma fatty acids for the diagnosis of essential fatty acid deficiency in cystic fibrosis. J Lipid Res 1989;30:1483-90.
3. Strandvik B, Gronowitz E, Enlund F, Martinsson T, Wahlstrom J. Essential fatty acid deficiency in relation to genotype in patients with cystic fibrosis. J Pediatr 2001;139:650-5.
4. Carlstedt-Duke J, Bronnegard M, Strandvik B. Pathological regulation of arachidonic acid release in cystic fibrosis: the putative basic defect. Proc Natl Acad Sci USA 1986;83:9202-6.
5. Farrell PM, Mischler EH, Engle MJ, Brown DJ, Lau SM. Fatty acid abnormalities in cystic fibrosis. Pediatr Res 1985;19:104-9.
6. Hubbard VS, Dunn GD, di Sant'Agnese PA. Abnormal fatty-acid composition of plasma lipids in cystic fibrosis. A primary or secondary defect? Lancet 1977;2:1302-4.
7. Lloyd-Still JD, Johnson SB, Holman RT. Essential fatty acid status in cystic fibrosis and the effect of safflower oil supplementation. Am J Clin Nutr 1981;34:1-7.
8. Freedman SD, Katz MH, Parker EM, Laposata M, Urman MY, Alvarez JG. A membrane lipid imbalance plays a role in the phenotypic expression of cystic fibrosis in cftr (-/-) mice. Proc Natl Acad Sci U S A 1999;96:13995-14000.
9. Stewart B, Zabner J, Shuber AP, Welsh MJ, McCray PB Jr. Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med 1995;151:899-903.
10. Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, et al. A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. J Pediatr 1995;127:281-3.
11. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994;331:974-80.
12. Fitzgerald D, Van Asperen P, Henry R, Walters D, Freelander M, Wilson M, et al. Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H). J Paediatr Child Health 1995;31:168-71.
13. Stern RC. The diagnosis of cystic fibrosis. N Engl J Med 1997;336:487-91.
14. Alton EW, Currie D, Logan-Sinclair R, Warren JO, Hodson ME, Geddes DM. Nasal potential difference: a clinical diagnostic test for cystic fibrosis. Eur Respir J 1990;3:922-6.
15. Sauder RA, Chesrown SE, Loughlin GM. Clinical application of transepithelial potential difference measurements in cystic fibrosis. J Pediatr 1987;111:353-8.
16. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132:589-95.
17. Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995;6:445-55.
18. Wilmott RW. Making the diagnosis of cystic fibrosis. J Pediatr 1998;132:563-5.
19. Borowitz D, Baker RD, Stallings V. Consensus report on nutrition for pediatric patients with cystic fibrosis. J Pediatr Gastroenterol Nutr 2002;35:246-59.
20. Moser HW, Moser AB. Measurement of saturated very long chain fatty acids in plasma. In: Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 1991:177-91.
21. Dodds ED, McCoy MR, Rea LD, Kennish JM. Gas chromatographic quantification of fatty acid methyl esters: flame ionization detection vs. electron impact mass spectrometry. Lipids 2005;40:419-28.
22. Benabdeslam H, Garcia I, Bellon G, Gilly R, Revol A. Biochemical assessment of the nutritional status of cystic fibrosis patients treated with pancreatic enzyme extracts. Am J Clin Nutr 1998;67:912-8.
23. 2- isoprostane levels. Free Radic Biol Med 2000;28:806-14.
24. Mastella G, Di Cesare G, Borruso A, Menin L, Zanolla L. Reliability of sweat-testing by the Macroduct collection method combined with conductivity analysis in comparison with the Gibson and Cooke technique. Acta Paediatr 2000;89:933-7.
25. Warwick WJ, Hansen LG, Brown IV, Laine WC, Hansen KL. Sweat chloride: quantitative patch for collection and measurement. Clin Lab Sci 2001;14:155-9.
26. Cystic Fibrosis Foundation. The Sweat Test, http://www.cff.org/AboutCF/ Testing/SweatTest/ (accessed February 2006).
27. Parad RB. Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement. Pediatrics 1998;101:851-5.
28. Farrell PM, Koscik RE. Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis. Pediatrics 1996;97:524-8.