cystic fibrosis

Question

Hello, my name is Loredana, and I have a wonderful child who has very often problems with the lungs and bronchi. We’ve made several investigations, including sweat test, and the result was 54mmol/L. In every hospital we went they gave us antibiotics like erythromycin and Salbutamol nebulization, but the diagnosis every time was obstructive bronchitis. My question is: do I have to worry that my child has CF? Is it necessary to make other tests?

Answer

Dear Madam,
Considering what are you saying, this is probably a respiratory pathology with many exacerbations. CF is suspected only when a child has clinical pulmonary signs like (chronic cough, repeated respiratory infections, bronchiectasis) and digestive (chronic diarrhea, liver disease, meconium ileus, secondary diabetes). However, there are also cases of CF, where the function of the pancreas is not impaired and mainly lung symptoms occur.
You have to repeat the sweat test, and consider the test to be positive only if the value is 60mmol/L (2 positive tests) + genetic test. In general, the test should be performed at an experienced center using a so-called pilocarpine ionotophoresis to measure the chloride concentration of the sweat.
When you have a value that is 54mmol/L, like in your case sweat test result is seemingly in the intermediate range, you need to repeat the test or a genetic test for CFTR mutations would be the next and important step to make a diagnosis.
Unfortunately I can’t give you a clear answer in your child's case, because it is more difficult to put a CF diagnosis. We need to know the child's history disease, laboratory investigations, clinical signs, things that are impossible to assess via internet.
We recommend a reevaluation in an experienced CF center.
If you have other questions we will be happy to answer.
Best wishes
Prof. Dr. POP

06.11.2013