New diagnostic method for cystic fibrosis

Acta Univ Carol Med (Praha). 1990;36(1-4):142-3.

Abstract

We report 3 cases where the diagnosis of cystic fibrosis (CF) was either confirmed or refuted by studies of chloride secretion in intestinal mucosal biopsies. In one case a heterozygous state was indicated and later confirmed by gene probe studies. The technique clearly distinguishes between CF and control patients and can provide a rapid diagnosis even in the neonatal period.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chlorides / metabolism
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism
  • Humans
  • Infant, Newborn
  • Intestinal Mucosa / metabolism

Substances

  • Chlorides