8 year-old girl with aquagenic keratoderma syndrom (follow up)

Question

I asked about your opinion on my 8 year old daughter with Aquagenic keratoderma syndrome that appeared 6 months ago. Sweat test is 26 (performed 2 months ago).
We have just received the results of the genetic blood test, which is negative for the 32 CFTR mutations studied in France today.
By cons it is stated that there is the presence of the polymorphism 7T.
What do you think, should my daughter should she consider the results in searching of the entire CFTR mutations?
Thank you.

Answer

Hello,
The results you sent are reassuring: no digestive or respiratory suggestive symptoms of cystic fibrosis, unambiguously normal sweat test, absence of the 32 main CFTR mutations in the analysis of molecular biology. The 7T variant of the IVS 8 polymorphism is also reassuring: it is indeed the 5T variant that may contribute to a CFTR disorder, such as bilateral absence of the vas deferens (source of male infertility) which can occur isolated or associated with cystic fibrosis.
Finally, all facts indicate that your daugher’s Keratoderma Aquagenic syndrom is not related to cystic fibrosis, and it is not useful to carry out an extensive study of the CFTR gene.
Hope that answers your question.
Gilles Rault

01.07.2013