Screening young syndrome patients for CFTR mutations

K. J. Friedman, H. Teichtahl, D. M. De Kretser, P. Temple-Smith, G. J. Southwick, L. M. Silverman, W Edward Jr. Highsmith, R. C. Boucher, M. R. Knowles

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Young syndrome is characterized by obstructive azoospermia associated with chronic sinobronchial disease of an infectious nature, but normal sweat- gland and pancreatic function as well as normal nasal potential differences. Congenital bilateral absence of the vas deferens (CBAVD) in some patients arises from mutations within the cystic fibrosis (CF) transmembrane regulator (CFTR) gene. Because of some similarities between Young syndrome, CF, and CBAVD, we evaluated 13 patients with Young syndrome, including screening for more than 30 different mutations within the CFTR gene. The mean age of the patients was 43 yr (range, 32 to 50 yr), and all were of northern European extraction. The sweat chloride concentration was normal in all patients (mean = 29 mEq/L; range, 8 to 43 mEq/L). Most had intermittent bronchial and sinus infections, but none was chronically colonized with Staphylococcus aureus or Pseudomonas aeruginosa. The FEV1 was normal or only mildly reduced in most patients (mean = 74%; range, 48 to 100% predicted). Of 26 Young syndrome chromosomes, we identified one with the recognized CF mutation ΔF508. The incidence of CFTR mutations (1 in 26) did not differ significantly from the expected carrier frequency in this population. In summary, it is unlikely that the typical Young syndrome patient has a clinical disease associated with CFTR mutation on both alleles.

Original languageEnglish (US)
Pages (from-to)1353-1357
Number of pages5
JournalAmerican Journal of Respiratory and Critical Care Medicine
Volume152
Issue number4 I
StatePublished - 1995
Externally publishedYes

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Mutation
Cystic Fibrosis
Regulator Genes
Sweat Glands
Azoospermia
Sweat
Nose
Pseudomonas aeruginosa
Staphylococcus aureus
Young Syndrome
Chlorides
Chronic Disease
Chromosomes
Alleles
Incidence
Infection
Population
Congenital bilateral aplasia of vas deferens

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Friedman, K. J., Teichtahl, H., De Kretser, D. M., Temple-Smith, P., Southwick, G. J., Silverman, L. M., ... Knowles, M. R. (1995). Screening young syndrome patients for CFTR mutations. American Journal of Respiratory and Critical Care Medicine, 152(4 I), 1353-1357.

Screening young syndrome patients for CFTR mutations. / Friedman, K. J.; Teichtahl, H.; De Kretser, D. M.; Temple-Smith, P.; Southwick, G. J.; Silverman, L. M.; Highsmith, W Edward Jr.; Boucher, R. C.; Knowles, M. R.

In: American Journal of Respiratory and Critical Care Medicine, Vol. 152, No. 4 I, 1995, p. 1353-1357.

Research output: Contribution to journalArticle

Friedman, KJ, Teichtahl, H, De Kretser, DM, Temple-Smith, P, Southwick, GJ, Silverman, LM, Highsmith, WEJ, Boucher, RC & Knowles, MR 1995, 'Screening young syndrome patients for CFTR mutations', American Journal of Respiratory and Critical Care Medicine, vol. 152, no. 4 I, pp. 1353-1357.
Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM et al. Screening young syndrome patients for CFTR mutations. American Journal of Respiratory and Critical Care Medicine. 1995;152(4 I):1353-1357.
Friedman, K. J. ; Teichtahl, H. ; De Kretser, D. M. ; Temple-Smith, P. ; Southwick, G. J. ; Silverman, L. M. ; Highsmith, W Edward Jr. ; Boucher, R. C. ; Knowles, M. R. / Screening young syndrome patients for CFTR mutations. In: American Journal of Respiratory and Critical Care Medicine. 1995 ; Vol. 152, No. 4 I. pp. 1353-1357.
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