Topics

Intron 8 7t/7t Exon 13 D727y
Dear Sir or Madam, My 10-year-old daughter (CF) was tested in 2009 because she often had abdominal pain with diarrhea and also respiratory infections and bronchitis. Our pediatrician sent us to the CF outpatient department of the University Hospital Leipzig [Germany]. A sweat test was done which was positive [pathological] with a value of 77 mmol. Since the value was increased the test was repeated: the result was 77 mmol again. A further test was done, this time the result was even 102 mmol. For the doctors at the University Hospital it was evident, thus, that my daughter has CF. After an internal change of the treating doctor, the new doctor wanted to do a genetic test for further clarification. The result, however, was negative. Since all symptoms indicated that she had CF, the doctors decided to have a complete sequencing done (Hannover laboratory); this was also negative. In fact, two mutations were found (Intron 8 – 7t/7t and D727y im Exon 13) but researchers have not found out so far if something relevant for the disease happens in the exon. At the beginning, the X-ray of the lungs was conspicuous. Partly, the creatinine value was strongly increased and the bile acid value was too high. Kidneys are a bit enlarged. She also has fructose and sorbitol intolerance. All diseases that could cause a false-positive test were excluded. A double-sided chloride testing was also negative (29 mmol) [normal]. I was told that the reason for the earlier positive sweat test results was the underweight of my daughter. Meanwhile she is 135 cm tall and weighs about 22-23 kgs, i.e. still underweight. Now, I learned that there are also forms of CF without any detectable mutations. I simply would like to know if my child has CF or not. Such a situation is very unsettling for a mother. I hope you can give me your opinion about the whole situation that would help me to get a clearer picture. First of all, I would like to know why the sweat tests were positive. Best regards
07.07.2015
Pulmonary condensation
Hello, The last Thorax x-ray of my 11 year old son revealed pulmonary condensation. I don't really understand what it mean´s or what are the consequences. Can you explain it to me? Thank you in advance
07.07.2015
Magic sand
Hello, Friends offered to our 4-year-old son a game called "Magic sand". It is a dry powder which we put in a bowl filled with water and which is sculpted in the water, like modelling clay. Once finished, we remove the sand of the water and we put back it in a bottle:then it's completely dry. Does it represent a danger for our CF son? Does he have to avoid playing it or do we have to take more precautions to wash his hands after the game and to prevent him from drinking the water? Thank you
28.06.2015
judo
Hello, My 6-year-old daughter wishes to practice judo. Is this activity advised because there are closer contacts closer with other children (who can potentially be sick, in particular the winter) and because of the environment (door: often closed, not much air)? Thank you in advance,
28.06.2015
Suggested sunken chest in case of a child with CF
Dear expert team, our daughter (6-years old), CF, has a slight deformation of the chest. At the last visit in the CF center, the physician in charge spoke about a suggested sunken chest. He said, that one could not do anything against it at the moment, that however, if it would disturb her when she is breathing, one could have it operated later. Now we have read a bit about the sunken chest in the internet, about the impairment of heart and lung because of it and also that one could do something against it probably with physiotherapy or suction cup. Now we rather do not like to wait, until it comes to impairments and we have the idea to present our daughter at a specialist. What is your opinion about this? Are there any experiences in case of children with CF, that have a sunken chest, are there therapeutical possibilities that can positively influence a sunken chest during growth? How can we find a suitable specialist? We are living in the south of the blackforest (Germany). We would be very pleased about your experience and recommendations. Many thanks!
28.06.2015
Bronchoscopy
My son (18 years old) has been diagnosed to have an atelectasis. He has a very good overall health status. His oxygen values are very good, lung function 103%, sputum findings o.k., very good weight, no dyspnea, physically fully stressable, therefore no impairment. Is there the possiblity, that the atelectasis can resolve fully by increased physiotherapy or is a bronchoscopy with flushing urgently necessary without cessation and can this also be done in the ambulant setting?
28.06.2015
Stopping birth control
My friend, now 35 years old, is born with CF. It is said that people with CF are infertile, now my question is: Can I stop taking birth control pills? We do not want to have children ...
28.06.2015
nutrition
I am a maternity nurse and wants to know if a mother with a CF baby can do breastfeeding.
28.06.2015
Blood pressure
Hello dear expert team! I am taking the drung Candesartan plus for 10 years now. 2014 I have lost my conscious for 2 times, many investigations did really not bring results. Only a suspicon for a vasovagal syncope. My blood pressure is now without a drug too high in the day mean, unfortunately even not a lowering in the night, either. Unfortunately I have the impression, that my blood pressure medication has side effects. Feeling rapid heart beat. I feel it often to beat hard and I am dizzy, inner disquite. Therefore I tried it for 4 weeks without medication. However 157/97 in the day mean and 144/87 in the night is too high. Longterm blood pressure in the hospital. Which kind of substances are the best for CF patients and which are not suitable at all? I am 48 years old and weigh 77 kg, high blood pressure is in my family. My FEV1 is around 30%. After my syncope I have already changed a lot. I drink much more and try to take less tablets like Arcoxia, azithromycin, ibuprofen, no permanent antibiotic therapy against Staphylococci, my blood values have improved much. Before, creatinin 100 to 135, now 82! Actually I am only taking ACC 600, Vitamin D3 and acetylsalicyclic acid. Unfortunately, the cardiologists do not see the whole human being, but rather only their special area. Just in case of CF, the situation is rather complex. I have heard about some CF patients, that they tolerate the calcium antagonists quite well, however beta-blocker are narrowing the lung. Which experience do you have as a CF doctor for many years? My ultrasound of the heart is normal. Many thanks for an answer.
28.06.2015
First infection with Pseudomonas aeruginosa
Hello, my daughter, 6-years old, is doing quite well, and has a permanent antibiotic therapy for 4 years with cefuroxim, now Pseudomonas has been found for the first time in the throat swab. We have then inhaled with Tobi for 4 weeks, unfortunately it has again been found at the control two weeks after cessation of the inhalation, now even in moderate number, before the number was rather small. Now we are starting again with Tobi and an oral therapy with ciprofloxacin. Should one give the oral therapy a chance or better do an i.v. therapy with tobramycin??? Is that more secure than an oral therapy? I just want that it disappears fast again. Would like to do a home i.v. therapy. Best regards, V.M.
28.06.2015
<<  < 60 | 61 | 62 | 63 | 64 | 65 | 66 | 67 | 68 | 69 | 70 | 71 | 72  ...  342 >  >>