Topics

Ionic exchanger as a water softening device for the water used in the house
Hello, We do have extremely calciferous water here. Our neighbours had a water damage now for the first time because of the calcination of the water pipes. I am wondering if the installation of an ionic exchanger is possible. Short description of its function: Calciferous water flows into the softener and there, the chalk is bound to the exchanger resin by the ionic exchanger. The “exhausted” exchanger resin is regenerated with a sodium chloride solution; after regeneration, the ionic exchanger resin is rinsed thoroughly and disinfected (how ever that is supposed to happen). The salt-chalk-solution goes into the wastewater sewage. The salt is added in form of granulate by the user. Unfortunately, I a have not found out yet how the brine (salt water) is produced in the exchanger, if the salt remains dry inside the storage container until the resin is rinsed with “fresh” brine about every three days. This brings up the question of a potential germ risk. Are there experiences with such devices? Are you aware of any CF family that has such a device? Thank you very much for your information. Many greetings, K.
12.08.2013
Pseudomonas in the lake / retention pond (storage reservoir)
Hello, We would like to move to another apartment and I am a CF patient. We looked at an apartment which is about 30-40 meters away from a retention pond and about 100 meters away from a lake. Is there a danger to be colonized with pseudomonas (by inhaling) if we moved to the new apartment? I had pseudomonas once. But now it is eradicated. Thank you for your help. Many thanks!
12.08.2013
Rare germ Inquilinus limosus
Dear expert team, My son 11 year-old son, suffering from CF, has been diagnosed to bear the germ Inquilinus limosus. (Apart from that he is from time to time colonized with Staphylococci, Candida or Aspergillus). As this germ seems to be very seldom, some statements contradict, therefore I ask for your advice. At first I would like to know if a treatment is necessary even if it does not cause any problems up to now? Lung function results up to now are about 110-120%, no increased mucus production, no cough. Furthermore I would like to know, how this germ has to be regarded concerning rehabilitation, physiotherapy or hospital stays. Are there any restrictions? I am looking forward to an answer, Yours sincerely, Daniela H.
12.08.2013
National laws for CF patients
Dear representative, I know that in Italy there is a law that governs the CF treatment clinics and other aspects. Are there other similar laws in different European countries? We would like to establish an Israeli law, and for that we wish to gather all equivalent laws. Thank you in advance.
12.08.2013
Body fat scale
Dear Sir or Madam, My body fat was determined in the gym by using a body fat scale with handle electrodes (fat < 9%, muscle mass about 43%). This measurement is said to be not very exact. Is is possible that in CF individuals additional measuring errors can occur due to the for sure altered skin impedance? If this is the case, in which direction would the result be falsified? Best regards, Christian H.
12.08.2013
Disinfecting
Any recommendations, in general, on how often to disinfect items such as sinks, toilets, tubs, shower doors and heads, etc? I am feeling overwhelmed. Thanks.
12.08.2013
Negative for R117H, positive for 5T
Hello Doctor, We are trying to find as many information possible about this, because we are going to do IVF in the next weeks. Both myself and my husband tested positive for the 5T allele, but negative for the rest. I was wondering what are our risks for our baby? All that I found is that we have some risk of having a boy with CBAVD but our CF risk is almost none. Am I correct? Can you provide more info on this and what we can expect? Thank you VERY much! M
12.08.2013
Water dispenser with a fixed fresh water supply (pipe hook-up) – pseudomonas
Dear expert team, My daughter (4 years) has CF. In the day-care-center they have now installed a water dispenser with a fixed fresh water supply (pipe hook-up) instead of using water bottles. The children can help themselves to water. The dispenser points out that it has to be rinsed after not being used for a while. Is this without risk for my daughter (especially concerning pseudomonas); can she drink from the dispenser or is another solution better for her? (after first colonisation with successful eradication so far we are a bit afraid). Many thanks
31.07.2013
Possible medicamentous treatment of this form of mutation?
Dear expert team, I have already asked a question about the respective CF mutation form of my son; many thanks for the extensive answer (see below). Now, I would also like to know if there will be a medicamentous treatment for my son’s mutation form in the near future? Best regards, N.R. ---- The following question was asked by me in May [2013]. Forms of mutations Question: My son has been diagnosed to suffer from CF additionally due to a meconium ileus and at the same time a pathological result of the newborn screening and a subsequent sweat test. After a detailed analysis of the genetic testing we got the result of the kind of mutation: DF508/del.13/14a. As I have read that the forms of mutations are divided into 5 classes according to severity, I would like to know now, if in case of this kind of mutation still functioning proteins are produced in the cell (class 5) respectively if it is a class 2 mutation, i.e. the protein is not able to mature in den endoplasmatic reticulum. Is there an influence on the severity of the course of CF due to a heterozygous respectively a homozygous form of the mutation? Best regards, N. R. Answer Dear N. R. I answer your question in 3 parts: first of all I will address the 2 mutations, then the connection between the severity and the homozygous forms of mutations. 1. CF-mutation F508del In case of F508del, it is a classical CF-mutation of type II. The mutation is well known: 70% of CF-genes carry this mutation, 50% of CF-patients are homozygous for this mutation. F508del is a class 2 mutation. 2. CF-mutation "del.13/14a" Now to "del.13/14a": presumably its a matter of a deletion (therefore del) of a great part of the CF-gene (presumably exon 13 and 14a, therefore "13/14a"). I write "presumably" as the name "del.13/14a" cannot be found either in the international CF-gene mutation database (there are at the moment at least nearly 2000 variants of the CF-gene listed there) nor it is an official mutation name (del13/14a is a colloquial description, for deletions there are unfortunately no easily understandable international valid rules of name-giving). I would not like to guess here: please try to contact the human genetic specialist in charge, that first of all it is doubtlessly clear, if in your son indeed the exons 13 and 14a of the CFTR-gene are deleted. In case this tradition pertains, "del13/14a" is a so-called "out-of-frame-deletion", as a consequence a mutation class 1, from which no functional protein can derive. 3. Grade of severity and mutation combination In general a mutation genotype "class 1/ class 2" leads to a typical CF, that e.g. is always accompanied by pancreatic insufficiency. Furthermore however, the following is true: dependent on the inherited mutations one can draw conclusions on the average course of the illness in a group of patients with the same CFTR-mutations, however the validity for the individual course of a single patient is NOT given thereby. In a recent statement of an internationally composed CF-expert group it says word for word: "...broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not acurately predict individual outcome. The use of CFTR-genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended...."(for the sake of completeness the source: Journal of Cystic Fibrosis 7(3):179-196; 2008). The reasons for this lack of predictive value for the single human being are all influence factors on the course of CF, that play a role besides the CFTR-mutation genotype (environmental factors, other inherited factors, especially important: physician and therapeutic management of the illness) - according to the recent estimate these "non-CFTR-factors" have a greater significance as the sole CFTR-mutation genotype. Best regards, Frauke Stanke 18.06.2013
31.07.2013
D1152H and G85E
Hello, my son (5 months plus) has inherited the D1152H and G85E mutations. His sweat test at 14 days old came back borderline at 33. His first two fecal elastase tests came back borderline, but his most recent test came back normal. Overall he has been healthy thus far. Any info on these two mutations besides what is available on the CFTR1/CFTR2 websites? I have read that D1152H is a class IV mutation, but I have seen G85E characterized as class II, III or IV on different websites. Is there a possibility for Kalydeco® working on either mutation? Thanks for any info. This is a wonderful site! (I apologize I entered this question anonymously first).
31.07.2013
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