Linee guida
Il test del sudore
SWEAT TESTING: RECOMMENDATIONS FOR THE PERFORMANCE AND INTERPRETATION OF RESULTS OF THE ITALIAN CYSTIC FIBROSIS SOCIETY
SOCIETÀ ITALIANA FIBROSI CISTICA
Ottobre 2007 - pagg. 512 -516
Abstract
The quantitative measurement of sweat electrolytes following stimulation by pilocarpine iontophoresis remains the gold standard for the diagnosis of both classical, atypical forms of CF and the so called CF related diseases also in the genomic era. In fact, despite the discovery of over 1000 mutations in the cystic fibrosis transmembrane conductance regulator gene on chromosome 7, a minority of children with cystic fibrosis have no identifiable gene mutations. Moreover a number of mutations are associated with atypical and very mild clinical manifestations and with intermediate or negative sweat test results. With the introduction of routine neonatal screening programs accurate analysis of sweat test electrolytes is particularly important.
The recent first national audit in Italy showed widely variable practice and standards in sweat testing and identified inconsistencies between current practices and international guidelines. The Italian Cystic Fibrosis Society suggested that recommendations were needed and a multidisciplinary working group was created. This group was composed by various experts in medical and laboratory disciplines (chemists, biologist, nurses, clinicians) and
representatives of different scientific societies and patients. They develop the document based on evidence-based UK guidelines with contributes from US and Australian guidelines, experts’ opinions and the most recent scientific evidences. Recommendations are graded A, B, or C, depending on the level of evidence. The document covers subject suitability, the methods for stimulations and collection of sweat, the performance and analytical quality control of the
test, interpretation of results. It also includes a form for the patient’s information. The full guidelines can be found on: http://www.sifc.it/index.php?option=com_docman&task=
cat_view&gid=70&Itemid=125 and http://www.medicoebambino.com/index.php?u= sudore_test_raccomandazioni_fibrosi
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
• Australian Guidelines for the Performance
of the Sweat Test for the Diagnosis of Cystic
Fibrosis (2005) http://www.aacb.asn.au/
• Barben J, Ammann R, Metlagel A, Schoeni R. Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis. J Pediatr 2005;146(2):183-8;
• Barben J, Casaulta C, Spinas R, Schöni MH. Sweat testing practice in Swiss hospitals. Swiss Med Wkly 2007;137:192-8.
• Beauchamp M, Grey V, Lands LC. Sweat collection for testing in Canadian cystic fibrosis centers: is it optimal? Clin Biochem 2005; 38:934-7.
• Beauchamp M, Lands LC. Sweat Testing: a review of current technical requirements. Pediatr Pulmonol 2005;39:507-11.
• Cirilli N, Bella S, Biffi A, et al. Il test del sudore in Italia: risultati del 1° Audit italiano. Minerva Medica 2006;97 (Suppl.1, N.5):118.
• Davis PB, Schluchter MD, Konstan MW. Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatr Pulmonol 2004;38(4):203-9.
• De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61(7):627-35.
• Desax MC, Ammann RA, Hammer J, Schoeni MH, Barben J. Nanoduct(R) sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis. Eur J Pediatr 2007 [Epub ahead of print]
• Gilbert CJ, Griffith MJ, Holland MR, Gama R. The sweat test: effect of elution time on chloride and sodium concentrations. Ann Clin Biochem 2005;42(5):400-1.
• Gilljam M, Ellis L, Corey M, Zielenski J, Durie P, Tullis DE. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 2004;126(4):1215-24.
• Guidelines for the Performance of the Sweat Test for the Investigation of Cystic Fibrosis in the UK (2003) http://www.acb.org. uk/
• Jakobsson BM, Salomonnson S, Hjelte L. Sweat tests in Sweden 2002 - a cross sectional study, J Cyst Fibros 2004;Suppl 1:E441.
• Lezana JL, Vergas MH, Karam-Bechara J, Aldana RS, Furuya ME. Sweat conductivity and chloride titration for cystic fibrosis diagnosis in 3834 subjects. J Cyst Fibros 2003;2(1):1-7.
• Losty HC, Wheatley H, Doull I. The evaluation of a novel conductometric device for the diagnosis of cystic fibrosis. Ann Clin Biochem 2006;43(5):375-81.
• Mackay R, George P, Kirk J. Sweat testing for cystic fibrosis: a review of New Zealand laboratories. J Ped Child Health 2006;42:160-4.
• Massie J, Gaskin K, Asperen P, et al. Sweat Testing Following Newborn Screening for Cystic Fibrosis. Pediatr Pulmonol 2000;29:452-6.
• 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;26:135-53.
• Naehrlich L. Sweat testing practices in German cystic fibrosis centers. J Cyst Fibros 2004;Suppl 1:E444.
• Naehrlich L. Sweat testing practices in German cystic fibrosis centers. Klin Padiatr 2007; 219(2):70-3.
• NCCLS. Sweat testing: sample collection and quantitative analysis; approved guideline. Second edition, US National Committee for Clinical Laboratory Standards Document C34- A2 (ISBN 1-556238-40704) 2000. NCCLS 940 West Valley Road, Suite 1400, Wayne, Pennsylvania 19087 0 1894, USA
• North Thames Sweat Test Audit – January 2004 http://www.acbsouth.org.uk/science/ documents/200401sweat.pdf
• Padoan R, Bassotti A, Seia M, Corbetta C. Negative Sweat Test in Hypertripsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur J Pediatr 2002;161:212-5.
• Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/ DNA cystic fibrosis newborn screening algorithm. J Pediatr 2005;147(3 Suppl): S78-82.
• Parad RB, Comeau AM, Dorkin HL, et al. Sweat testing infants detected by cyastic fibrosis newborn screening. J Pediatr 2005; 147(3 Suppl):S69-72.
• Taccetti G, Festini F, Braccini G, Campana S, de Martino M. Sweat Testing in Newborns Positive to Neonatal Screening for Cystic Fibrosis. Arch Dis Child Fetal Nenatal Ed 2004; 89:463-4.
• Tluczek A, Koscik RL,Farrell PM, Rock MJ. Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics 2005;115(6):1692-703.
• Traduzione Italiana delle Linee Guida Inglesi sul Test del Sudore
• Barben J, Ammann R, Metlagel A, Schoeni R. Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis. J Pediatr 2005;146(2):183-8;
• Barben J, Casaulta C, Spinas R, Schöni MH. Sweat testing practice in Swiss hospitals. Swiss Med Wkly 2007;137:192-8.
• Beauchamp M, Grey V, Lands LC. Sweat collection for testing in Canadian cystic fibrosis centers: is it optimal? Clin Biochem 2005; 38:934-7.
• Beauchamp M, Lands LC. Sweat Testing: a review of current technical requirements. Pediatr Pulmonol 2005;39:507-11.
• Cirilli N, Bella S, Biffi A, et al. Il test del sudore in Italia: risultati del 1° Audit italiano. Minerva Medica 2006;97 (Suppl.1, N.5):118.
• Davis PB, Schluchter MD, Konstan MW. Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatr Pulmonol 2004;38(4):203-9.
• De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61(7):627-35.
• Desax MC, Ammann RA, Hammer J, Schoeni MH, Barben J. Nanoduct(R) sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis. Eur J Pediatr 2007 [Epub ahead of print]
• Gilbert CJ, Griffith MJ, Holland MR, Gama R. The sweat test: effect of elution time on chloride and sodium concentrations. Ann Clin Biochem 2005;42(5):400-1.
• Gilljam M, Ellis L, Corey M, Zielenski J, Durie P, Tullis DE. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 2004;126(4):1215-24.
• Guidelines for the Performance of the Sweat Test for the Investigation of Cystic Fibrosis in the UK (2003) http://www.acb.org. uk/
• Jakobsson BM, Salomonnson S, Hjelte L. Sweat tests in Sweden 2002 - a cross sectional study, J Cyst Fibros 2004;Suppl 1:E441.
• Lezana JL, Vergas MH, Karam-Bechara J, Aldana RS, Furuya ME. Sweat conductivity and chloride titration for cystic fibrosis diagnosis in 3834 subjects. J Cyst Fibros 2003;2(1):1-7.
• Losty HC, Wheatley H, Doull I. The evaluation of a novel conductometric device for the diagnosis of cystic fibrosis. Ann Clin Biochem 2006;43(5):375-81.
• Mackay R, George P, Kirk J. Sweat testing for cystic fibrosis: a review of New Zealand laboratories. J Ped Child Health 2006;42:160-4.
• Massie J, Gaskin K, Asperen P, et al. Sweat Testing Following Newborn Screening for Cystic Fibrosis. Pediatr Pulmonol 2000;29:452-6.
• 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;26:135-53.
• Naehrlich L. Sweat testing practices in German cystic fibrosis centers. J Cyst Fibros 2004;Suppl 1:E444.
• Naehrlich L. Sweat testing practices in German cystic fibrosis centers. Klin Padiatr 2007; 219(2):70-3.
• NCCLS. Sweat testing: sample collection and quantitative analysis; approved guideline. Second edition, US National Committee for Clinical Laboratory Standards Document C34- A2 (ISBN 1-556238-40704) 2000. NCCLS 940 West Valley Road, Suite 1400, Wayne, Pennsylvania 19087 0 1894, USA
• North Thames Sweat Test Audit – January 2004 http://www.acbsouth.org.uk/science/ documents/200401sweat.pdf
• Padoan R, Bassotti A, Seia M, Corbetta C. Negative Sweat Test in Hypertripsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur J Pediatr 2002;161:212-5.
• Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/ DNA cystic fibrosis newborn screening algorithm. J Pediatr 2005;147(3 Suppl): S78-82.
• Parad RB, Comeau AM, Dorkin HL, et al. Sweat testing infants detected by cyastic fibrosis newborn screening. J Pediatr 2005; 147(3 Suppl):S69-72.
• Taccetti G, Festini F, Braccini G, Campana S, de Martino M. Sweat Testing in Newborns Positive to Neonatal Screening for Cystic Fibrosis. Arch Dis Child Fetal Nenatal Ed 2004; 89:463-4.
• Tluczek A, Koscik RL,Farrell PM, Rock MJ. Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics 2005;115(6):1692-703.
• Traduzione Italiana delle Linee Guida Inglesi sul Test del Sudore
Corrispondenza: natalia.cirilli@ao-salesi.marche.it