CF like disease

Question

Hello,

What does this diagnosis mean for our child? (cough, bacterial colonization, pancreatic insufficiency)

Friends told us that the genetic defect is not located on the usual gene but outside so that a mutation cannot be determined and thus the new therapy options cannot be applied.

Thank you!

Answer

Hello!

Thank you for your question. The diagnosis “CF like disease” is not an official diagnosis but describes the situation of a patient who has in most cases a chronic obstructive pulmonary disease that reminds the treating doctor of cystic fibrosis (CF). Before using the term “CF like disease” it is important to make sure that CF is really excluded genetically and functionally. These tests should be done in a special CF center since there are many clinical occurrences of CF which are caused by the many different mutations that are known today (~2000). The term „CF like diseases“ means different other chronic obstructive pulmonary diseases which mostly have their own diagnosis and should therefore – once the diagnosis was made – be listed with this specific diagnosis. The term “CF like disease” should actually only be used for those patients with the respective symptoms where another diagnosis could not be made so far. Unfortunately, the term is often used although another (more specific) diagnosis is already known.

Irrespective of that, many chronic obstructive pulmonary diseases are similar to CF what the clinical picture of the patient is concerned. This means that the mucociliary clearance is disturbed so that a lot of mucus stays in the bronchia; the mucus can be colonized by certain bacteria and a permanent inflammation of the bronchia and the lung tissue can be the result. In such cases, a therapy would be similar to CF therapy, i.e. one would try by using mucolytic inhalations and physiotherapy to get mucociliary clearance in gear or to preserve it. In case of bacterial colonization one would try to eradicate it. If the latter is not possible any more, one would try to maintain the chronic infection by a regular antibiotic suppression therapy at a level that does harm the lungs as little as possible.

What pancreatic insufficiency is concerned I would personally not count it under “CF like disease” since this term is rather used for similarities with CF lung diseases (as far as I know). However, others might have a different opinion of course.

At last, please note that CF centers are mostly pulmonary centers which also have a lot of experience with other chronic obstructive pulmonary diseases. Thus, an interim or also permanent treatment at such a center is a good option also to be able to finally find the correct diagnosis.

Best regards,
Olaf Sommerburg

19.07.2015