ecorn-cf: App. question list

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Loss of appetite and refusal to drink: Hello, Could you explain us what are the different mechanisms behind the lack of appetite in a CF child? Is it always a sign of congestion or are there also digestive origins? In the same vein, do you know why our children refuse to drink in hot weather? Thank you in advance for your response.; 14.05.2012

Life expectancy: Hello, My son suffers from CF, homozygous deltaF508, class 2. Life expectancy is about 40 years, but whatever the gene. Is there a study about life expectancy of the mutation deltaF508 ? It is surely not the same if it had been a class 1 or 6. Thank you for your response.; 14.05.2012

The bleach at school: Hello, In September, my granddaughter will start school. In public facilities, bleach is prohibited. Can you tell me if there are other effective and inexpensive products used to clean toilets and sinks? Thank you in advance.; 14.05.2012

Pregnancy and CF: I am a CF patient, 36 years old and turning 37 in April, married and already have two children (12 and 8 years old). Now it “happened” again: I am pregnant again. If I were healthy, I would be very happy, but I have CF. Last year I was in very bad health after a severe lung bleeding, but I recovered and am doing quite well now, except I sometimes have blood in my sputum. The gynaecologist says I am 6+3 weeks pregnant. I do not know what to do; my husband actually does not want another child for fear about me and my health. Which drugs can one take during pregnancy, and can one do an i.v. antibiosis? I have so many questions…; 14.05.2012

Two mutations on a chromosome: Hello, My 3 month old son was diagnosed two months ago. He was found a first mutation, W1282X, and the second has just been found. He has two mutations on a chromosome: the R170H mutation and one that apparently had never appeared before, C243DelT, also diagnosed as a stop mutation (as W1282X). What about when there are two mutations on a chromosome? Does one take precedence over the other? Do both of them explain the symptoms of the disease? Because it seems that the R170H is a moderate one, I was wondering if it could alleviate symptoms? Thank you.; 14.05.2012

Relevance of the sweat test: My grandson, 4 years old, has problems with his intestines and airways since birth. He had a sweat test and the value was 45. After that no further examination was done because he did not have any further complaints. Now he however again is short of breath and has abdominal pain. Is it, given the value of 45, better to do further tests?; 14.05.2012

Lupus and CF – Quensyl®?: Dear expert team, I was diagnosed with an autoimmune disease. However, it is not yet clear whether it is MS (multiple sclerosis) or SLE (systemic lupus erythematosus). My symptoms – persistent joint and muscle pain emerging out of the blue – are probably more in line with lupus, which is why my rheumatologist recommends long-term therapy with Quensyl® (hydroxychloroquine sulfate). I have considerable doubts because of its side effects, especially given that one can probably tell whether there are any positive effects at all only after about six months. Do you have any experience with long-term treatment of an SLE with Quensyl® in CF? If so, could you perhaps give me the name of the clinic so that my doctor or I could talk to the doctor there about the experience? Can you recommend an expert in CF/immunology/rheumatology? Many thanks!; 08.05.2012

Playin soccer / particular tips?: Dear expert team, I am 28 years old and was diagnosed with CF at age 7 (delta F508/R347P), with a relatively mild progression so far. I have pseudomonas in my sputum frequently, and aspergillus every once in a while. At the end of last year, I had pancreatitis briefly (probably due to irregular intake of creon), but amylase, lipase, and CRP are normal again. My lung function is pretty good: VC 96%, FEV1 93%, PEF 139%. I am 183cm tall and weigh about 69/70kg. I have always worked out a lot, although I switched from soccer to indoor sports and going to the gym a few years after the diagnosis. I am now considering going back to playing soccer regularly. My questions: 1. Is soccer an advisable sport for people with CF like me? 2. Do you consider it a problem if I play soccer e.g. under wet conditions or in the cold? 3. Do you have any particular tips I should consider? Many thanks and kind regards.; 08.05.2012

3121-1G-mutation: Dear Expert, I have a 6 years old boy with 3121-1G->A and N1303K. He is PI (born with meconium ileus), and with regards to the lung disease he is not symptomatic. Can this genetics predict the severity of his lung disease? Can you know the molecular outcome of the 3121-1G->A mutation? Does this splicing mutation result with a nonfunctional protein? Can normal splicing happen in some frequency? Is there a drug in the pipeline for amending splicing defects? And another question with regards to 3121-1G->A, do you know when was the first time that this mutation was linked to Iraqi Jews? Thank you very much!; 08.05.2012

Tonsils and adenoids: Dear doctor, Should the tonsils and adenoids be removed in a child with CF? Is there an increased risk of complications or loss of immunity? We would like your opinion on the need to remove or not remove tonsils and adenoids in a child with CF with little nose throat complaints.; 08.05.2012