Literature DB >> 10833182

Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis.

C Castellani1, A Tamanini, G Mastella.   

Abstract

The cystic fibrosis (CF) clinical spectrum has greatly expanded in the past few years, including atypical forms with low sweat chloride concentrations. Two cases are presented which suggest that children detected by neonatal CF screening whose trypsinogen concentrations are still raised by the second month of age could, despite a negative sweat test, be affected by an atypical CF with fully expressed pulmonary involvement.

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Year:  2000        PMID: 10833182      PMCID: PMC1718352          DOI: 10.1136/adc.82.6.481

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  8 in total

1.  Shwachman's syndrome: pathomorphosis and long-term outcome.

Authors:  M Cipolli; C D'Orazio; A Delmarco; C Marchesini; A Miano; G Mastella
Journal:  J Pediatr Gastroenterol Nutr       Date:  1999-09       Impact factor: 2.839

Review 2.  The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.

Authors:  B J Rosenstein; G R Cutting
Journal:  J Pediatr       Date:  1998-04       Impact factor: 4.406

3.  Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride.

Authors:  C Castellani; M G Benetazzo; A Bonizzato; P F Pignatti; G Mastella
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

4.  Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test.

Authors:  M J Rock; E H Mischler; P M Farrell; W T Bruns; D J Hassemer; R H Laessig
Journal:  Pediatr Pulmonol       Date:  1989

5.  Dried-blood spot screening for cystic fibrosis in the newborn.

Authors:  J R Crossley; R B Elliott; P A Smith
Journal:  Lancet       Date:  1979-03-03       Impact factor: 79.321

6.  Nasal potential difference in congenital bilateral absence of the vas deferens.

Authors:  U Pradal; C Castellani; A Delmarco; G Mastella
Journal:  Am J Respir Crit Care Med       Date:  1998-09       Impact factor: 21.405

7.  Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.

Authors:  A Augarten; B S Kerem; Y Yahav; S Noiman; Y Rivlin; A Tal; H Blau; L Ben-Tur; A Szeinberg; E Kerem
Journal:  Lancet       Date:  1993-07-03       Impact factor: 79.321

8.  Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants.

Authors:  B Wilcken; A R Brown; R Urwin; D A Brown
Journal:  J Pediatr       Date:  1983-03       Impact factor: 4.406

  8 in total
  2 in total

1.  Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases.

Authors:  Sophie Collardeau-Frachon; Raymonde Bouvier; Catherine Le Gall; Christine Rivet; Faiza Cabet; Gabriel Bellon; Alain Lachaux; Jean-Yves Scoazec
Journal:  Virchows Arch       Date:  2007-06-07       Impact factor: 4.064

2.  The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.

Authors:  Isabelle Sermet-Gaudelus; Delphine Roussel; Stéphanie Bui; Eric Deneuville; Frédéric Huet; Philippe Reix; Gabriel Bellon; Gérard Lenoir; Aleksander Edelman
Journal:  BMC Pediatr       Date:  2006-10-03       Impact factor: 2.125

  2 in total

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