Asymptomatic cystic fibrosis diagnosed in an adult evaluated for hematuria

Am J Kidney Dis. 2002 Jan;39(1):E3. doi: 10.1053/ajkd.2002.29924.

Abstract

We report a case of cystic fibrosis in an asymptomatic man evaluated for hematuria with infertility. The ever-broadening spectrum of atypical adult presentations of cystic fibrosis should prompt physicians to have a lower threshold for ordering genetic screening for cystic fibrosis transmembrane regulator (CFTR) gene mutations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Diagnosis, Differential
  • Hematuria / complications*
  • Hematuria / urine
  • Humans
  • Male
  • Mutation
  • Vas Deferens / abnormalities

Substances

  • CFTR protein, human
  • cystic fibrosis transmembrane conductance regulator delta F508
  • Cystic Fibrosis Transmembrane Conductance Regulator