Science and Research

Nasal potential difference in suspected cystic fibrosis patients with 5T polymorphism

BACKGROUND: 5T polymorphism is a CFTR mutation with unclear clinical consequences: the phenotype varies from healthy individuals to Cystic Fibrosis (CF). The aim of this study was to evaluate if nasal potential difference (NPD) and sweat testing correlate with symptoms and CF diagnosis in 5T patients. METHODS: 86 patients with 5T who had undergone NPD measurement, were included (6 homozygous (5T/5T), 41 with a PI-CF causing mutation in trans (5T/PI-CF), 11 with a PS-CF causing mutation in trans (5T/PS-CF) and 28 without a known mutation in trans (5T/?). Data including age, phenotype, sweat chloride and follow up were collected. RESULTS: 33% of the 5T/5T patients had abnormal NPD results, compared to 70% in 5T/PI-CF; 33% in 5T/PS-CF and 29% in 5T/?. The percentage of high or borderline sweat chloride was highest in 5T/PI-CF, and 5T/?, compared to 5T/5T and 5T/PS-CF (91, 96, 80, and 63%, respectively). TGm (number of TG repeats in intron 8) analysis was performed in 21 5T/PI-CF patients. TG11 was associated with lower sweat chloride, lower percentage of abnormal NPD and less progression of symptoms compared to TG12 and TG13. CONCLUSION: There is much variation in clinical status among 5T patients. All patients in this study with 5T/PS CF, all patients with both normal NPD and sweat test, and most patients with TG11 were stable or improving over time. Therefore, NPD measurement and TGm status aid to assess if a patient is at high risk for developing CF or CFTR-related disease and if specific follow up in a CF center is required.

  • Aalbers, B. L.
  • Yaakov, Y.
  • Derichs, N.
  • Simmonds, N. J.
  • De Wachter, E.
  • Melotti, P.
  • De Boeck, K.
  • Leal, T.
  • Tummler, B.
  • Wilschanski, M.
  • Bronsveld, I.


  • CFTR function
  • CFTR-related disorder
  • Cystic fibrosis
  • Ivs8-5t
  • Nasal potential difference
  • Sweat chloride
Publication details
DOI: 10.1016/j.jcf.2019.07.001
Journal: J Cyst Fibros
Work Type: Original
Location: Assoziierter Partner, BREATH
Disease Area: CF
Partner / Member: BIH, MHH
Access-Number: 31331863
See publication on PubMed

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