Germ colonization with atypical cystic fibrosis

Question

Hello,

is the probability of germ colonization as high in atypical cystic fibrosis (R553x and IVS8-5T-TG12 mutations) as in typical cystic fibrosis?

Many thanks.

Kind regards
C.M.

Answer

Hello,

progression of atypical cystic fibrosis (CF) with the mutations you mention differs significantly from the classic form of CF. Whether there are any changes or symptoms at all and whether they affect several organs or only one depends on a number of other factors as well. Mostly, the symptoms are milder and less pronounced. The precise clinical development cannot be predicted in atypical CF either, however, and can often only be determined from the progression and by regular checks. The build-up of viscous secretion in the lungs is possible with atypical CF as well, however, particularly in case of infections. This could result in a positive germ test. Personally, I would advise you to have a throat swab done if your daughter shows pulmonary symptoms, and to start an antibiotic therapy in case of a positive germ test. With the knowledge of the diagnosis of atypical CF, you have the option of reacting promptly. It can be expected that therapy will soon be successful. With prompt therapy, I would assess the risk of a chronic germ colonization to be significantly lower than with typical CF. I would also like to point out that it is reasonable to do regular check-ups in a CF clinic, for instance annually or every one-and-a-half years.

Kind regards
Dr. H. Ellemunter

06.09.2010