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cystic fibrosis
- Question
- I have a 3 month old daughter diagnosed with cystic fibrosis, my question is : if mother is a carrier and father is not, could it be possible that my daughter to become only carrier and not having a severe form of CF, requiring mechanical ventilation.
- Answer
- Hello,
Cystic fibrosis is an autosomal recessive disease, meaning that the child is sick if inherits the alleles from both parents, one mutation from each parent. If your child was diagnosed with cystic fibrosis, it is compulsory that it inherited pathological gene from each parent. It is possible that the father is a carrier of a mutation that was not included in the kit used for the genetic test. Carrier status is not equivalent to a milder form of illness; a carrier is healthy but can transmit the pathological gene.
Sincerely,
Liviu Prof.Dr.Pop - 24.11.2011
