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- ABPA_Aspergillus
- accompanying diseases
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Topics
- Pseudomonas aeruginosa and colloidal siver
- Hello, Will it be beneficial to use colloidal silver as an adjunct to antibiotic treatment for a 4y child ?
- 05.08.2015
- Carrier of a rare mutation
- Hello, Following a family tragedy (the death of my nephew at one month of life because of a rare and serious cystic fibrosis. My sister and her spouse are carriers of a rare gene...). For myself I conducted genetic tests. It turns out that I'm carrying, like my elder sister, a CF gene (which is not part of the classic 80% mutations of the test used in our country). My husband did the test: he is not carrying a classic mutation either. We already have a son who is well but what about the next pregnancy? Is there anything we can do to ensure that this kind of tragedy does not happen (in case my spouse would be carrying a rare mutation like my brother in law)? I was told of further ultrasounds ... Is it possible to make a complete genome study ?
- 05.08.2015
- P5L
- Hello, I have a child with N1303K mutations and P5L, he is 2 years and so far has no symptoms of the disease. Have you heard about this rare mutation P5L? Thank You
- 05.08.2015
- Symptoms of rare mutations in our baby
- My husband and I are both carriers of a CF mutation and I'm pregnant. We were told, there is a 25% chance that our baby could inherit our two mutations and we want to know what symptoms the child may have if this is the case. My F508del mutation is common (with R668C variant, which should not be significant) but my husband is carrying a F834L mutation. We consulted the CFTR2 but we did not find any information about this change even if we read a case in ancient CFTR2 files of a woman with this mutation who had pancreatic insufficiency, respiratory problems and a dubious sweat test. This patient had F834L in conjunction with a different mutation from that I carry. Using two predictive computer programs, the results were very different: the first predicted that there would be a simple variant / polymorphism while the second predicted there would be a "possibility of damage" with a score of 0.09 on a 0-0.10 scale, 0.10 being the most serious. Since we have had difficulty in finding information about the F834L mutation, which is the rarest, I would like to know if you've met on your journey / experience or if you can predict the kind of symptoms that could cause the F508del. Thank you in advance
- 01.08.2015
- Aquagenic wrinkling of palms
- Hi, I'm dermatologist A 20-year-old girl comes to consult me: she has been experiencing a typical 10 days clearly an aquagenic wrinkling of palms (I did the test and have well observed characteristic changes of her palms...). No personnal history of CF. Do I still worry her and have her making a CFTR gene mutation research? The articles describe this anomaly more often in CF patients and are not clear for non CF patients. Thank you for your response.
- 01.08.2015
- Gene therapy: GL67A
- Hello, The results published in The Lancet Respiratory Medicine by British researchers are positive although modest ... and this news delights us! Could you tell me if, contrary to the protein therapy, gene therapy would be beneficial for all patients or the type of mutation also will affect the outcome? Also, do you know which mutations were carried by the patients who tested the GL67A ? Thank you in advance for your reply.
- 01.08.2015
- Kalydeco® and salt supplementation
- Hello, In case of scorching heat salt supplementation is recommended for all CF patients. But what about for patients on Kalydeco®? Because their sweat normalizes, so we can assume that salt losses are less ...
- 01.08.2015
- UVESTEROL®
- Hello, For several years, press reports echo of some dangerousness of the UVESTEROL® (it seems full of dubious excipients). But this vitamin synthesis is prescribed for CF patients. Are these rumors true?Is it a question of dosage? Is it necessary to give uvesterol® ADEC to a pancreatic sufficient baby? Thank you to reassure us!
- 01.08.2015
- Orkambi®
- Hello Has an Orkambi® marketing study been scheduled for heterozygous F508del CF patients? (Excluding gating mutations).And in children under 12? Can you send me the link of the site or sites that allowed you to answer me please? How have other mutations been tested in phase 2? Per class? case by case? Can we expect off-label use to allow precisely to assess the benefits of treatment in each case? Thank you for your response.
- 01.08.2015
- Urinary incontinence
- CF women and CF girls present, with a higher frequency than in the general population, urinary incontinence during exercise. Why? What can we do? Are any cases of urinary incontinence reported among CF young girls? Thank you in advance for your response on this subject little discussed.
- 01.08.2015
