Am. J. Respir. Crit. Care Med., Vol 152, No. 4, Oct 1995, 1353-1357.
Screening Young syndrome patients for CFTR mutations
KJ Friedman, H Teichtahl, DM De Kretser, P Temple-Smith, GJ Southwick, LM Silverman, WE Highsmith Jr, RC Boucher and MR Knowles
Department of Hospital Laboratories, University of North Carolina, Chapel Hill 27514, USA.
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 delta F508. 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.
