Cystic fibrosis and Down's syndrome: not always a poor prognosis

Pediatr Pulmonol. 2001 Apr;31(4):321-2. doi: 10.1002/ppul.1049.

Abstract

A child developed a bronchiolitis-like illness and was found to have mosaic Down's syndrome (diagnosed on karyotype) and also cystic fibrosis, diagnosed on the basis of a high sweat osmolality (247 mosmoles/kg sweat; normal, 62-137) and a homozygous delta F508 genotype. Despite two potentially life-threatening conditions, the child is doing well at the age of 7 years, despite pancreatic insufficiency.

Publication types

  • Case Reports

MeSH terms

  • Bronchiolitis / diagnosis
  • Bronchiolitis / etiology
  • Bronchiolitis / pathology*
  • Child
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / pathology*
  • Diagnosis, Differential
  • Down Syndrome / genetics
  • Down Syndrome / pathology*
  • Female
  • Humans
  • Mosaicism
  • Prognosis
  • Sweat / chemistry