Cystic fibrosis and down's syndrome: Not always a poor prognosis | Zendy

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Cystic fibrosis and down's syndrome: Not always a poor prognosis

Author(s) -

Saglani Sejal,

Bush Andrew

Publication year - 2001

Publication title -

pediatric pulmonology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.866

H-Index - 106

eISSN - 1099-0496

pISSN - 8755-6863

DOI - 10.1002/ppul.1049

Subject(s) - cystic fibrosis , medicine , sweat , bronchiolitis , pancreatic disease , pediatrics , sweat test , genetic disorder , respiratory disease , multisystem disease , disease , respiratory system , pancreas , lung

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. Pediatr Pulmonol. 2001; 31:321–322. © 2001 Wiley‐Liss, Inc.

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