ecorn-cf: App. question list

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CF with two nonsense mutations: Hello, our son (5 weeks old) was born with meconium ileus and suffers from exocrine pancreatic insufficiency, which is being treated with pancreatin. By now, it is clear that he has CF. The genetic test showed a compound heterozygosity with nonsense mutation in exons 6 and 11 (heterozygous nonsense mutation in exon 6b (p.Q250X, apparently a very rare mutation) and in exon 11 (G542X)). Our questions: Are there any studies about the course of the disease in CF patients like our son, with two stop mutations? Can we hope for the introduction of PTC124, with the result that our son will not suffer from any further impairment especially of the lungs after taking it (provided that, with the currently known therapies, his problems with the pancreas and lungs will remain)? Many thanks for your answer, and best wishes!; 02.03.2009

MRSA and the environment: Dear expert team, in the family of a friend, MRSA was detected: 2 CF children, father also MRSA-positiv, mother free of MRSA. What does this mean for the contact to the environment, e.g., contact with families with healthy babies, ill friends (no CF) or with friends suffering from CF, and contacts during work? Thanks for the info.; 26.02.2009

Padma Basic, Neoglandyna Omega 6: What do you think of giving to a CF patient such preparations like Padma Basic, Neoglandyna Omega 6? How could they influence the health status of this patient?; 26.02.2009

Wilson disease: Where I can do genetic analysis and how much is it?; 24.02.2009

Inhaled antibiotics available in Germany: My daughter will be studying in Germany for 6 months this spring/summer and is interested in what inhaled antibiotics are available and approved for use in CF there. Could someone tell us?; 24.02.2009

Prognosis after rectal suction biopsy: Thank you for answering my previous question about the diagnosis of cystic fibrosis. Meanwhile a rectal suction biopsy was done. Also this did not bring a clear result. The amount of CFTR protein was low but there was some residual function said our pediatrician who got this answer from the CF doctor. The doctor says it’s either no CF or a very mild form of CF that my daughter can live with until the age of 70 or 75. Now everywhere I read that even mild forms of CF can have a severe course. To what degree can a doctor state, after result of rectal suction biopsy, that it is a mild form of CF and that the prognosis is always really good? Could a rectum biopsy taken in 20 years time give a different result or will the CFTR protein always have a considerable residual function? I really cannot find a lot of information on this. My pediatrician couldn’t answer me at all. She says she is not sufficiently specialized. Also I wonder how it is possible that a rectum biopsy would yield an abnormal result if no second gene mutation is found. Can being a carrier result in an abnormal rectal biopsy result?; 24.02.2009

PCT 124: Dear expert advice team, I have the following mutations, 508 and R 1066C. Since R1066C is a so-called nonsense mutation: Could you inform me if PCT 124 can be a cure in this case or makes treatment more effective? Is there already a date when this drug will be available? Thank you very much and kind regards; 24.02.2009

Sport and crosstrainer: Since 2 months I train nearly daily for 20 minutes on my cross trainer. Until now I didn’t really exercise all that much because I didn’t like it. Strangely enough I now really start enjoying myself. What is best to improve my condition and my lungs? To have short duration maximal exercises or longer duration medium intensity exercise? I am 40 years old and during my training my heart rate increases to 175 beats per minute. Thank you very much for your answer.; 24.02.2009