Topics

Male Fertility
Is there a surgical treatment that restores the function of the vas deferens in a man suffering from infertility due to cystic fibrosis?
19.06.2013
Hypoglycemia
Hello, My son, eleven months old with cystic fibrosis, was hospitalized for three days after hypoglycemia (he woke up one morning in a hypotonic state and he was not able to remain upright, emergency blood glucose was 0.39). The first results are ok, nothing has been detected, we expect more extensive assessments to detect any metabolic disease. I just wanted to know if hypoglycemia could be related to cystic fibrosis, if you know of any similar cases ... Thank you.
19.06.2013
FEV1 in mild forms of cystic fibrosis
Hello, Are FEV1 of 100 % after the age of 30, history of frequent bronchitis, immunodeficiency in childhood, rhinitis and chronic sinusitis, and unexplained abdominal pain consistent with a mild form of cystic fibrosis?
19.06.2013
cystic fibrosis and meeting with dolphins
A big thank you to Dr. Ravilly for her response on the opportunity to swim with dolphins. We retain a possible offer for swimming in the sea or ocean but not in the dolphinarium (risk of transmission in two directions). Last question: what about the meeting at the edge of the dolphinarium pool with possible contact (touch the dolphin or kiss but no contact with water)? Another big thank you for your help, we begin to see more clearly. Dr. B
19.06.2013
swimming pond
Dear reader, We have a 14 year old teenager with CF (mutation DF508 and N1303K) We are thinking about having a swimming pond in our garden. Would you advise us not having a swimming pond or is there no problem at all and can we put through our plans? Yours sincerely,
18.06.2013
Forms of mutations
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.
18.06.2013
Chorionic villus sampling (CVS)
I would like to know how long I have to wait for a first result after a chorionic villus sampling (CVS) with respect to cystic fibrosis? Many thanks
17.06.2013
Nebulizing time, devices
Dear expert team, Having received a bad MRI result we have to increase the therapy effort of our 22-month-old daughter. That means: In the morning and in the evening 4ml 6% HTS (hypertonic saline) and at noon 2,5ml Pulmozyme® (Dornase alpha). Currently, we are using the device “Pari Boy Junior”. Nebulizing 4ml of MucoClear® (hypertonic saline) takes 25 minutes! Our daughter is inhaling very well but still it is not easy to keep her at it twice a day for such a long time – it is very exhausting for all persons involved. Therefore, we would like to know if we could change the device and use “eFlow rapid” instead? During inhalation our daughter sits upright on our lap. She is able to inhale for a while with the mouthpiece but she prefers the facial mask. Could the “eFlow rapid” be used under these conditions? Thank you and best regards!
12.06.2013
Genetic testing of a sibling in spite of negative sweat test?
Dear expert team, we have a daughter at toddler's age suffering from CF as well as a son of 7 years. At the time the diagnosis of CF was made in our daughter, we also had a sweat test done to our son. This test showed a value of 11 mmol/l in the normal range. The sweat test had been performed at the same children's hospital as the one from our daughter, there are already some CF patients cared for there and I think the test has been done correctly. Now it is like this that our son has again and again cough for several weeks (more than our daughter with CF). We are right now again in such a phase of cough (productive cough, also wheezing) that already lasts for 5 weeks. Now I think every time, can it be that the sweat test was false negative respectively probably not every CF patient has a positive sweat test. I know e.g. about a CF-patient who had 3 times non-elevated values and only the blood test gave clarity, and that after 20 years. The pediatrician prescribed montelukast to our son. He takes it now for 13 days and the cough is unchanged (especially in the mornings in bed and in case of exertion, i.e. in case of running or jumping etc....). The last throat swab of our daughter showed Haemophilus influenzae, however she has not any complaints at all (no cough, no rhinitis...). Is it not possible that our son has also this Haemophilus influenzae and this is causing the cough? At the last visit at our pediatrician I would actually have wanted a throat swab to be done on my son, this has however not been regarded to be necessary and therefore montelukast has been prescribed. The pediatrician assumed that it was a viral thing and the bronchi still had an inflammation. Our son is also regularly present at the physiotherapy appointments of our daughter and participates in nearly all excercises. Also there he coughs a lot and the physiotherapist said, this did not sound like viscous mucus, it would be loose. How do you judge the situation? Does a genetic testing make sense? Does the health insurance covers unproblematically a genetic testing for a sibling even if the sweat test had been negative? I am looking forward to your anwer. Many thanks.
12.06.2013
Oral glucose tolerance test (OGT)
My son, 35 years old, has a pathological oral glucose tolerance test (OGT) - performed at the general practitioner- CF center did not regard the test to be necessary - Hb A1c 5.4. The blood sugar values after 60 min: 278 and after 90 min: 243. Should one begin with little dosages of insulin or which approach can you recommend? Many thanks and best regards, B.S.
12.06.2013
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