cystic fibrosis

Question

1. Who can disprove fixed cystic fibrosis diagnosis (no CFTR gene mutation; chlorine in sweat: 81 mmol/l, 51 mmol/l, 10 mmol/l, 12 mmol/l, 49 mmol/l)?
2. Does belong invalidity benefit (child has 18 years old) if cystic fibrosis diagnosis is not disclaim?
3. Why prof. Kiauleikienė recommendations for treatment of cystic fibrosis and disability determination are invalid?

Answer

Dear Customer,
Thank you very much for your questions. I will try to answer.
First of all, previuosly was slightly different criteria for cystic fibrosis diagnosis and prof. M. Kiauleikienė according to old criteria diagnosed cystic fibrosis for your child.
Before provide disability due to cystic fibrosis at 18 years of age, it is asked to make an analysis for approving cystic fibrosis.
The first step to do this diagnosis is the performance of a sweat test. According to current consensus statements there is a uniform classification: chloride values 60 mmol/l are considered to be consistent with the diagnosis of CF.
In case the result is >60mmol/l, a second test is recommended, if the result is again >60mmol/l this confirms the diagnosis of CF.
By time, we learned, however, that there are CF-patients with even lower or even a negative sweat-test result. Therefore, if the result is borderline (40-60mmol/l), the test should be repeated; if the result is still borderline, other measures to clarify the situation are done: e.g. a mutation analysis and if needed a measurement of the potential difference of the rectum mucosa, other diagnostic tools are the analysis of the function of the pancreas (stool-fat, the pancreatic enzyme elastase in the stool), microbiological investigation of the airways. In case the sweat test shows a negative result ( under 40mmol/l) further diagnostic measures should be performed if the clinical symptoms still favour the diagnosis of CF.
A sweat test and CFTR gene analysis can be done in VULSK Medical Genetics Center.
Please check in for consultation and testing in Medical Genetics Center by phone (8 - 5) 2365116.
With best wishes.
Sincerely,
Algirdas Utkus
Clinical Geneticist

24.11.2008