ecorn-cf: App. question list

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7% NaCl: Hello, Many studies about the effectiveness of hypertonic saline were conducted with 7% NaCl solution. MucoClear® is, however, a 6% solution. How can I get a 7% solution? (P.S.: if the solution has to be mixed: what exactly should the prescription say?) Many greetings; 08.05.2012

Renal gravel: Dear expert team, my 7-year-old son has CF (F508 homozygous), his current FEV1 is at 88.4% and he is being treated with antibiotics continuously (cephalexin 1000mg and ciprofloxacin 250mg – 3 weeks on/3 weeks off, as well as colistin). We do an i.v. therapy at home once every year, the last one ended in mid-February. Pseudomondas was last detected in January 2008, but never again since. Now he had a kidney stone/renal gravel discharge, which was obviously very painful for him… (No abnormalities in the blood count.) My question now is: is it possible at all that this is linked to the drugs? Is the long-term antibiosis really necessary? Thank you for your answer.; 08.05.2012

Mycobacteria: Hello, 14 days ago I was diagnosed with a mycobacterium. TBC was excluded. What other bacteria come into question? And, what is very important for me: What does that mean for me in the worst case? I am thankful for each helpful and honest answer. Many thanks in advance and best regards, PH; 07.05.2012

Delta F508 x G542X mutation: Dear expert team, My two-month-old daughter has the mutations mentioned above; class 2 and class 1, respectively, i.e. very serious mutations. Do you know about any progressions of the disease with this combination? What should we expect? Can you recommend any drugs? My daughter is gaining weight quite well at the moment, and she does not seem to show any symptoms. We will test her for bacteria and lung function next week. Results apart from the gene test as of now: 1) IRT 131,5 ng/mL 2) pancreatic elastase: [translator’s note: some information seems to be missing in the original question]; 07.05.2012

How is the mixing ratio?: Hello, How is the correct mixing ratio if I have NaCl 6% and NaCl 0,9%? My 15-month-old boy is supposed to inhale NaCl 3% which was, however, refused by the insurance company… only NaCl 6% was approved. Many thanks; 07.05.2012

Mild CF?: Hello, I would like to know if it can be said that the splicing mutation 711+1G>T and the stop mutation p.R1162X. belong to a mild mutation?; 07.05.2012

Rare mutation: Hello, I am the mother of a little girl of three years, compound heterozygous for mutations F508del and T604i. I want to know what class of mutations T604i belong? Here the only information we know. T604i is located in exon 13 (substitution C> T at nucleotide 1943 resulting in the substitution of a threonine with isoleucine at position 604 of the protein.) Thank you. E.; 07.05.2012

Rare mutation - R709X: Hello, When my CFTR gene was sequenced the nonsense-mutation R709X (c.2125C>T) was detected. Furthermore, the molecular genetic findings of the Medical School Hannover (MHH, Germany) states that this mutation in combination with the 3272-26A>G mutation is most likely "compound heterozygous". What does "compound heterozygous" means in this context? Which mutation specific therapy forms would come into question? Many thanks, B.; 07.05.2012

Klebsiella bacteria in the throat: My daughter (14 months, CF) had a throat swab done in which klebsiella bacteria were found. The doctors said these bacteria were sensitive to cefuroxime and that I should give my daughter this antibiotic. However, she has already been taking it for three months anyway in order to get through the winter well. This means she has acquired the klebsiella bacteria during the antibiotic therapy, since they were not present in a swab done three months ago. What kind of bacteria are they exactly? What are the chances to get them under control with cefuroxime? On the other hand, they are after all linked with ESBL. How high is the risk that the next swab will show ESBL? Can we do anything at home in addition to giving her the antibiotic? Fighting the bacteria? Hygienic measures? Additional therapy? Thank you for your answer!; 07.05.2012

Thoracic hyperinflation: Hello, The last thoracic X-ray of my 3.5 years-old daughter revealed a thoracic hyperinflation. What does that exactly means? Is it temporary or permanent? My physiotherapist told us that a belt could help her. How considering the follow-up when such a hyperinflation is observed at a such young age?; 07.05.2012