Topics

ΔF508/R553X
Dear expert team, Could you please help me understand a paper that I found about the above mentioned genotype which is the genotype of my 7-month old daughter. The article "Early Detection of Lung Disease and Its Association with the Nutritional Status, Genetic Background and Life Events in Patients with Cystic Fibrosis" (von Richard Kraemer, Christoph Aebi, Carmen Casaulta Aebischer, Sabina Gallati; Department of Pediatrics, University of Berne, Berne, Switzerland; Respiration 2000;67:477-490 (DOI: 10.1159/000067458)) says the following: "R553X seems to decrease the influence of the ΔF508 deletion in ΔF508/R553X compound heterozygotes, causing a milder course and slower progression." I do not understand how a class-1-mutation (where there is no CFTR synthesis at all according to my understanding) can attenuate a class-2-mutation where "only" the CFTR maturation is malfunctioning? I am a medical lay person but I would like to understand the processes which are influencing the course of the disease. Best regards, KS
17.04.2012
pets
Hello, My little boy is four and has cystic fibrosis. He would like to have a pet. Do you think this is possible? If yes, what are the animals that we can accommodate, and those to avoid? Thank you in advance for your response.
17.04.2012
VX 770
Hello, A CF individual from France told me that the French health authorities do not give approval for VX 770 (not even via the "named patient program" of Vertex) since it is supposed to cause hepatitis side effects. Do you know more about it? [The second part of the question was only relevant for Germany and therefore is not published in the Central Archive.] Many thanks.
22.03.2012
electronic cigarettes
Hello, I have a question about electronic cigarettes (allowed in public places) : what is the content of the "smoke" that they reject? Is it harmful for us, CF patients (since obviously it can happen to us to be exposed in spite of ourselves)? I read that most were made ​​in China and that the nature of their smoke could be very variable. Thank you, kindly.
22.03.2012
Combination of two mutations
Dear expert team, I am a carrier of the F508del mutation, my husband is a carrier of the 5-T variant in the CFTR gene. My brother has CF. Our son was born two-and-a-half years ago in the 36th week. Apart from being very small and lightweight due to premature birth, he does not show any signs of CF. We have therefore been advised against diagnostics so far, and we were also told that a manifest CF would be very unlikely for our son with this combination of mutations, and that my husband’s mutation is a very mild one. Now my question: Is CF really unlikely for our son with our combination of mutations? And what does “mild mutation” mean for my husband? Many thanks for your advice.
22.03.2012
c.3773_3774insT (p.Leu1258PhefsX7)
Our son has the above mentioned mutation as well as Delta F508. The latter is known to me but for the one that is mentioned in the subject line I could not find any information. Considering these mutations, what can we expect (concerning the course of the disease and the medication)?
22.03.2012
Getting pregnant with CF -2-
Hello, 1. I would like to know, since you keep hearing different things about this, whether it is true that women with CF show a decline in lung function which they cannot recover due to a pregnancy. 2. Which type of sports should one do during pregnancy and how often in order to keep the lungs in shape? Many thanks!
22.03.2012
Use of propolis instead of antibiotics with CF
Propolis is a resin-like mass with antibiotic, antiviral, and antimyotic effects produced by bees. The bees produce the substance in order to keep the beehive free of germs. There are two options to use this in diseases of the respiratory tracts: 1. The air from the beehives is sucked off and can be breathed in via an inhalation mask. This is only possible next to the beehive and with certain beekeepers. 2. A so-called Propolino is available for purchase, which is a jar in which you put a capsule containing propolis solution. This solution is heated and the substances that are released can be inhaled. The Propolino can be put up at night e.g. in the children’s room. This option is certainly not as effective as option no. 1. Now my question concerning this: Do you have any experience with this method? If not, can one try this method as a CF patient or are there any objections to it? Should one first try a propolis treatment (option no. 1) before switching to an i.v. antibiotics therapy? Can option no. 2 be done prophylactically to strengthen the immune system so that regular use could immediately kill potential germs and the colonization of the lungs with germs can be prevented or at least delayed as long as possible?
22.03.2012
PTC124 approval?
Dear expert team, as far as I know, the drug is currently in phase III, which is supposed to end by mid-2012. Can you predict roughly how long it will take until the drug is approved and how likely it is to get approved at all? In case it does not get approved, would it be possible to obtain the drug from another country such as the United States or Israel? I am sorry for asking so many questions, but the drug is really important to me. Many thanks in advance.
22.03.2012
Pseudomonas putida
Dear expert team, I have a question concerning a germ. I have a CF-like disease; allergic ABPA, by now somewhat profoundly deforming bronchitis with recurring shifting of secretion. One-time detection of M. intracellulare in 2005. Repeated detection of alicagenes xylosoxidans/sarratia. Antibiosis very rarely, since low CRP, but lung loss. Recent cultures: - Aspergillus fumigatus: not worth treating, since apparently the other parameters do not require it - Klebsiella pneumoniae: low germ count - Pseudomonas putida: high germ count - Candida albicans: low germ count I assume “pseudomonas” usually has a deterring effect on all patients, but this one would be harmless! Only I have so much pus all the time that I cannot keep up with the coughing. Furthermore, I have a germ in the bladder that only – and just for a short time – reacts to oral cyclosporines (constant germs despite surgery, microhematuria, incontinence; the urologist recommends two further surgeries!). On top of this, I have some troubles (72 years old) that do not make treatment easier: arterial hypertonia, coxarthrosis on the right side, necrosis of the femoral head (should not be treated for now due to the lungs), sleep disturbance, all of which are a huge burden. Is the germ I mentioned really not worth treating? I would like to know more about this. Thank you for your effort and kind regards.
22.03.2012
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