Atypical CF?

Question

Our daughter is 8 years old. The problems started after a preterm birth already in her first year of life with several obstructive bronchitis and pneumonias. From the second year of life on long-term therapy with budesonide. With 5 years endonasal bilateral operation of the frontal ethmoidal sinuses and fenestration of the maxillary sinus bilaterally as well as adenotomie. Since then, chronic sinusitis, chronic bronchitis, constant yellowish/greenish sputum, polyposis nasi and bad general condition. Further investigations revealed: nasal N0 480 ppb; exhalative NO 7.3 ppb (Primary ciliary dyskinesia excluded to 60%); bronchoscopy showed a streak-atelectasis in the segment 8/9 as well as bronchiolitic changes in the left lower lobe, haemophilus influenzae type B has been detected. Since the second year of life until now about 15 trials have been undertaken to perform a sweat test. These all have however not been conclusive because of too few amounts of sweat. Actual therapy: cortisone containing nasal spray, azithromycin, Fluticasone and salmeterol combination inhalation therapy, Cornet, Trampolin, nasal shower. Trial of fininshing of azithromycin after 1.25 years was not successful and have been restarted after 5 months. Genetically until now no prove of CF, pancreatic elastase normal.
Our daughter and we suffer more and more because the illness has "no name" and we cannot face up with the causes and a predictable course. We get more and more the impression to fall through " a raster". We are struggeling most with the question, if our daughter is not simply a victim of percental probabilities resp. exclusions (Primary ciliary dyskinesia excluded to 60%; no genetical proof of CF, but only the most common changes are investigated, etc.). We are afraid, that due to the missing diagnose, important things for conservation of the actual condition remain undone.
Is there also the diagnose of an "atypical CF" or can we really assume that our daughter does not suffer from CF?
Many thanks!

Answer

Hello,
the problems of your daughter concern the whole airway-system, from the nose to the lower airways and the lung. A PCD has been taken into account (primary ciliary dyskinesia), that is an inherited impairment of the self-clearance of the airways, in general due to a structural anomalia of the ciliae. In a healthy person the ciliae transport secretions from the basis of the lung to the throat - as well as from the nose behind the tip of the nose and from the sinuses in the direction behind and down -also to the throat. The not significantly decreased nasal NO (nitrogen measurement in the expired air) speaks against this; in addition, here it comes typically also to problems of the ear with ventiliation impairment, inflammations of the middle ear and frequently impairment of the hearing. In addition, half of the patients show a rotation anomalia, that means that the heart and/or abdominal organs lie on the "wrong" side. Ear problems and rotation anomalias you do not mention. Otherwise I would recommend the investigation of the ciliae e.g. in Muenster, Germany.
Sweat test did not work and the genetic has been without pathological finding; in spite of this we have problems of the airways like with CF. Your pediatrician will be able to tell you if only the most common 33-36 mutations have been tested or a complete sequencing of the location of the CF-tranport channel regulator gene on chromosome 7 has been done, which carries the genetic information for the building of regualr chloride channels. Actually, over 1800 mutations are known on this gene location. Furhtermore, the performance of a measurment of the nasal potential difference or of the potential differene of the rectum mucosa could make sense, which can be done e.g. in Heidelberg, Germany.

With your pediatrician it has been looked for an allergy or an immuno-deficiency? Here there are several rare illnesses, which can be foundend auto-immunologically and lead to a similar picture as CF without involvment of the abdomen.

The above mentioned therapeutical measures of the upper and lower airways are according to acutal standards and can in case of a positive therapeutical effect be established as a long-term therapy.
Yours sincerely,
Dr. Jochen Mainz

06.12.2010