Topics

Kalydeco® off-label
Dear expert team, my son has the following CFTR mutations: 1717-1G>A (class 1) und die mutation S549R (gating/connection, class 2 oder 3) Kaleydeco ® has indeed at the moment only market authorization for the class 3 mutation G551D. However, tests with other mutations have been done. There it could be shown, that Kalydeco® is supposed to have a similar effect on all other gating mutations as it has on the mutation G551D. An application for all other non-G551D gating mutations has been subscribed to the FDA [American Food and Drug Administration]. Furthermore, other tests are underway, e.g. residual function. The other mutation of my son belongs to this group. Whereby it has to be remarked that besides the mutation still a little function of the CFTR has to be present. I cannot make a judgement about this. It is simply like this, that my son is doing well. The weight is all right, i.v. therapy only about one to two times a year, frequently Staphylococci, no Pseudomonas, or other bacteria. Whereby this is however true only for the moment. In order to avoid a worsening of the health situation of my son or to delay it, we would like to implement Kalydeco®. Now to my question: What do you think, is Kalydeco® medically indicated for my son? Many thanks for your answer
12.02.2014
CF carrier
Hello, I had a dry test and I am carrier for CF. After my results, my husband had a test(38 mutations) and he has the result: 1. No pathological mutation was detected 2. 7T polymorphism was detected. What does it mean? Might the child have a health problem? Thanks
12.02.2014
cystic fibrosis in a 3-year-old child
I have a 3-year-old boy diagnosed with CF, homozygous delta F508. Can he take Pulmozyme® and what is the dose, given that in the prospect is specified only over 5 years of age? Thank you
12.02.2014
Disinfection of inhalation device
Hello, how do I disinfect most effectively the different parts of the eFlow after inhalation, in case there is no vaporiser, electric water jug or similar devices and there is even not the possibility to heat/boil the different parts? Are there special solutions, in that the parts can be placed? Many thanks, Best regards, V.
11.02.2014
Atypical from of CF
Hello, I am 35 years old and in the frame of an genetic investigation it came out that I am a carrier of CF. When I was a baby, I had a strong pneumonia. I suffer from allergic asthma and have slight clubbing of the fingers. A recently performed sweat test had a result of 42 (control area). In the department of pulmonology (of a German university hospital) a lung function test had been performed. The result was without pathological findings (98%). The blood values had no pathological findings, either. Now, an ultrasound of the upper abdomen and a lung CT are planned just to be on the safe side. As I am in general free of symptoms, an atypical form of CF could be underlying. At the moment, a full sequencing of the genetic is done. My question:which further treatment would you recommend and what should I pay attention to the next years?
11.02.2014
CT of the lung appropriate?
Hello, I am 35 years old and in the frame of an genetic investigation it came out that I am a carrier of CF. When I was a baby, I had a strong pneumonia. I suffer from allergic asthma and have slight clubbing of the fingers. A recently performed sweat test had a result of 42 (control area). In the department of pulmonology (of a German university hospital) a lung function test had been performed. The result was without pathological findings (98%). The blood values had no pathological findings, either. Now, an ultrasound of the upper abdomen and a lung CT are planned just to be on the safe side. My question: is it not overdone to expose oneself to radiation, if I have otherwise no complaints? Or do you recommend a CT scan in this situation?
11.02.2014
ENAC
Hello, My question is complex. At the age of 22 months, my daughter has been diagnosed with CF because of gut and respiratory problems. The neonatal screening test at birth was negative (premature 33 gestaional weeks; 1.8kg) but, at diagnostic, the sweat test was highly positive (>200). Then, she had several problems, respiratory infections, maltophilia in the airways, staphylococcus and pseudomonas, that were treated by ciprofloxacin and Tobramycin. A second sweat test several months later was performed because no CFTR mutations could be found. This test was, again, very positive, with a decreased fecal elastase up to 50! Since then, several corticosteroid therapies had been necessary because of a severe airway hyperresponsiveness. As such, she had an adrenal insufficiency for more than a year, so she required a substitutive therapy with hydrocortisone. In October, we went to perform other tests to assess why, despite the absence of CFTR mutations, she had a marked phenotype. A new sweat test was then negative with a fecal elastase that came back to normal (I did not know that such decreased level could be reversible)!!! A NPD (nasal potential difference) measurement and a rectal biopsy confirmed the absence of abnormality in CFTR BUT, on the contrary, an important reaction to amiloride that led to highly suggest a problem in the ENaC channel. Since then, we don’t know anything more. What do you think of this atypical case? Are we still talking about CF? Is the evolution known? As parents, we are lost by all of this. I know that the medical doctors are also perplexed, but we need answers and need to know if other cases have been reported. Thanks for the answers you could provide me.
10.02.2014
Living in the United States of America
Hello, I am 17 and I have Cystic Fibrosis. I wish in the near future to live in the United States of America but I do not know how this great country treats people with Cystic Fibrosis. Are there CF specialized centres? Thank you in advance;-)
10.02.2014
Anal prolapse
Dear expert team, our daughter has CF and takes Kreon at hear meals! She has frequently an anal prolapse when having bowel movements (we have been told that this would be normal in CF and not serious, if it involutes spontaneously) - which is the case. She is otherwise not taking anything else for digestion! She is always pressing strongly even if the stool is always very mushy and thin. What can we do according to your opinion...we have soon another appointment in the CF center.
10.02.2014
Caries
Dear experts, my son (5 years, CF patient) has caries for the first time, at an early stage. In spite of the former detailed talks with the treating dentist about the illness, as well as about the specialties of the dental treatment in CF patients, the lady immediately does not want to take any responsibility for the treatment of my son anymore. A "sterile change unit" would be missing. According to the dentist, there would be the option of waiting until the caries "breaks through", then one could seemingly work without cooling/water. I really do not know at all what to do. Should I wait until the caries has "broken through"? Can with that the damage be not even greater? To treat a CF patient without a sterile change unti is seemingly risky (Pseudomonas)? What should I do ideally? Many thanks for your answer,
10.02.2014
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