Article
Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H).
Journal of paediatrics and child health - 1 Jun 1995
Fitzgerald D, Van Asperen P, Henry R, Waters D, Freelander M, Wilson M, Wilcken B, Gaskin K
Abstract excerpt
OBJECTIVE: In neonatal screening for cystic fibrosis (CF), infants recognised as delta F508 heterozygotes require a sweat test to confirm the diagnosis. However, compound heterozygotes with delta F508 and the R117H mutation are known to have non-diagnostic sweat chlorides (< 60 mmol/L) at an early age. As genotyping for rare mutations is not readily available in Australia, there is a need to determine whether...
Topics
- Child, Preschool
- Chlorides
- Cystic Fibrosis
- Female
- Gene Frequency
- Genetic Carrier Screening
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male