The Journal of Pediatrics
Volume 153, Issue 6 , Pages 758-763.e1 , December 2008

Diagnosis of Cystic Fibrosis by Sweat Testing: Age-Specific Reference Intervals

  • Avantika Mishra

      Affiliations

    • Department of Biochemical Genetics, VCGS Pathology, The Royal Children's Hospital, Parkville, Victoria, Australia
    • School of Medical Science–Laboratory Medicine, RMIT University, Bundoora, Victoria, Australia
    • ,
  • Ronda Greaves

      Affiliations

    • Laboratory Services—Complex Biochemistry, The Royal Children's Hospital, Parkville, Victoria, Australia
    • ,
  • Katherine Smith

      Affiliations

    • Clinical Epidemiology and Biostatistics Unit, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia
    • ,
  • John B. Carlin

      Affiliations

    • Clinical Epidemiology and Biostatistics Unit, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia
    • Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
    • ,
  • Andrew Wootton

      Affiliations

    • School of Medical Science–Laboratory Medicine, RMIT University, Bundoora, Victoria, Australia
    • ,
  • Rob Stirling

      Affiliations

    • Department of Allergy, Immunology and Respiratory Medicine, The Alfred Hospital, Melbourne, Victoria, Australia
    • ,
  • John Massie

      Affiliations

    • Department of Respiratory Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia
    • Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
    • Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia
    • Corresponding Author InformationReprint requests: Associate Professor John Massie, Department of Respiratory Medicine, The Royal Children's Hospital, Parkville VIC 3052, Australia

Received 18 December 2007 ,Revised 25 February 2008 ,Accepted 28 April 2008.

References 

  1. Welsh MJ, Ramsay BW, Accurso F, Cutting GR. Cystic fibrosis. In:  Scriver ABC,  Sly WS,  Valle D editor. The molecular and metabolic basis of inherited disease. New York: McGraw-Hill; 2001;p. 5121–5188
  2. Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C–>T mutation. Lancet. 1993;342:25–26
  3. Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23:545–549
  4. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–1073
  5. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059–1065
  6. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073–1080
  7. The Cystic Fibrosis Genotype-Phenotype Consortium. http://www.genet.sickkids.on.caAccessed Oct 1, 2006
  8. Mishra A, Greaves R, Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev. 2005;26:135–153
  9. Mishra A, Greaves R, Massie J. The limitations of sweat electrolyte reference intervals for the diagnosis of cystic fibrosis: a systematic review. Clin Biochem Rev. 2007;28:60–76
  10. Di Sant'Agnese PA, Darling RC, Perera GA, Shea E. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas; clinical significance and relationship to the disease. Pediatrics. 1953;12:549–563
  11. NCCLS. Sweat testing: sample collection and quantitative analysis; approved guideline. 2nd ed.. Wayne: The Committee; 2000;Document C34-A26
  12. Coakley J, Scott S, Doery J, Greaves R, Talsma P, Whitham E, et al. Australian guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Clin Biochem Rev. 2006;27:S1–S7
  13. Green A, Kirk J. Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Ann Clin Biochem. 2007;44:25–34
  14. Farrell PM, Koscik RE. Sweat chloride concentrations in infants homozygous or heterozygous for ΔF508 cystic fibrosis. Pediatrics. 1996;97:524–528
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  17. Kirk JM, Keston M, McIntosh I, al Essa S. Variation of sweat sodium and chloride with age in cystic fibrosis and normal populations: further investigations in equivocal cases. Ann Clin Biochem. 1992;29:145–152
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  26. Solberg HE. Establishment and use of reference values. In:  Burtis CA,  Ashwood ER editor. Tietz textbook of clinical chemistry. 2nd ed.. Philadelphia: W.B. Saunders; 1994;p. 454–484
  27. Green A, Dodds P, Pennock C. A study of sweat sodium and chloride; criteria for the diagnosis of cystic fibrosis. Ann Clin Biochem. 1985;22:171–174
  28. De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006;61:627–635
  29. Lebecque P, Leal T, De Boeck C, Jaspers M, Cuppens H, Cassiman JJ. Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med. 2002;165:757–761
  30. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement (Cystic Fibrosis Foundation Consensus Panel). J Pediatr. 1998;132:589–595
  31. Augarten A, Hacham S, Kerem E, Sheva Kerem B, Szeinberg A, Laufer J, et al. The significance of sweat Cl/Na ratio in patients with borderline sweat test. Pediatr Pulmonol. 1995;20:369–371

 Supported by a Scientific Grant from the Australasian Association of Clinical Biochemists. The authors declare no conflicts of interest.

PII: S0022-3476(08)00375-2

doi: 10.1016/j.jpeds.2008.04.067

The Journal of Pediatrics
Volume 153, Issue 6 , Pages 758-763.e1 , December 2008

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