Suspicion of CF

Question

Hello on your site again,
Still with not that many answers to my questions regarding the diagnosis of my child who is now 15 years old. I'd like your opinion, my son is pancreatic insufficient, so he takes Creon. He had 3 sweat tests all positive, but the genetic test is negative!! He has a deficiency of vitamin k but with weekly oral dose as well with i.m. it doesn’t change anything! His has a clotting problem with a decreased prothrombin time (54%), deficiency of factors II, V, VII, X. We just have consulted a doctor for CF who does NOT exclude CF. We are actually all in doubt because both fecal elastase and coagulation factors rise and decrease. It’s always changing !!! What do you think ??? Can you tell me more??? I cannot stand any more, after 8 months of exams without accurate diagnosis !!!! Do you think he could develop a new form of CF not yet known? Doctors told me that all is a great mystery !! I'd like to have your opinion please !!!

Answer

Hello ,
The CF-ECORN site does not provide answer to diagnostic problems because it would require:
- First, have your child examined for the existence of suggestive CF symptoms, such as poor growth for weight and/or height, chronic diarrhea, frequent bronchitis;
- and on the other hand, have the results of laboratory tests to confirm the diagnosis, namely:
o a genetic test showing the presence of two mutations in the cystic fibrosis gene: in the case of your child, where we do not find any mutations in this gene, it is necessary to perform a check of the genetic test in one of three French genetic laboratories of reference for CF (Brest, Paris-Créteil or Montpellier);
o or a sweat test (performed in a specialized CF Centre) showing a sweat chloride greater than 60 mmol/L.

I can just advise you to consult a doctor in your closest CF Centre. You will find the map of the French CF Centres by clicking on the following link and by selecting the name of your housing department:
www.vaincrelamuco.org/ewb_pages/c/centres-reference.php


Sincerely.
Gilles RAULT
Roscoff CF Center

15.09.2014