Topics

Unlisted mutation: Research and treatment
Hello, We just learned the diagnosis of our baby. It has a mutation that is not listed. Will this affect his future treatment? In short, will it be less well treated than a patient with the delta 508 mutation for example? Cordially.
24.02.2017
Maghrebian mutations
Hello, Is it true that the mutations of persons of Maghrebian and sub-Saharian origin lead to lighter forms of cystic fibrosis? Thanks in advance. Cordially.
24.02.2017
Mutation 3199del6
Hello My 6 year old son has CF with mutations F508/3199del6. I try to find on the net the classification of mutation 3199del6 but I cannot find any information about it. I inform you that my son was not born in France, no neonatal screening was done where we live. According to your explanation, despite the fact that one person carries the F508 mutation which appears to be among the most severe, the association with a "lighter" mutation can alleviate the form of cystic fibrosis and have a properly functioning CFTR protein? Thanks and Happy Holidays
24.02.2017
Mutations F508del / L227R
Hello, My 3 year old son has cystic fibrosis that was diagnosed less than a year ago. The two mutations found were F508del and L227R. As we live in Morocco we do not have a genetic counseling center that can tell us the degree of severity of this type of mutations and how this will develop in the future. Currently he takes pancreatic enzymes and a Pseudomonas was identified in his sputum. I would like to have more information on the degree of severity of his case please. And actually, pulmonary side so far it has a good follow-up, no more Pseudomonas, a current treatment with colimycin in aerosol. On the other hand he has frequent and fatty stools since his birth. Since we detected his Illness of CF a year ago he takes at each meal the eurobiol in pellets per dosing spoon of 12500 IU. When the meal is fat, I pass to two spoons; Yet I see no improvement. Do I have to go to creon? I have to increase the doses? Thanks so much for your help and happy holidays at all.
24.02.2017
Vegetarian
Hello, I am 42 years old. I've CF (pre-transplantation exams done but not yet listed), no malnutrition problem, but diabetes. I would like to considerably reduce my consommation of meat for ethical reasons (and only the meat in a 1st time), replacing it with vegetable meat type Veggifood etc .. My question is simple: is it possible (even if of some constraints?) Or is it a heresy, medically speaking? Thank you.
14.02.2017
Follow-up
Hello, What are the alternatives for patients when follow up becomes too "complicated" in a CF Centre? What do you recommend ? Thank you
14.02.2017
Moderate forms
Hello, My son 9 months old, has moderate form cystic fibrosis F508 / R347H. He is to this day without symptoms, without pancreatic involvement. I do not understand the term "mild" since I am told that this can evolve into a classic form like staying moderate. Do moderate forms have a somewhat greater life expectancy? Given the form he has, does he have a chance of remaining asymptomatic until adulthood? Can this disease remain silent for several years and degrade rapidly thereafter? It is difficult to find patients with the same genes.
14.02.2017
Non conclusive sweat test
Hello, following a hospitalization for bronchitis with severe oxygen-dependent asthma crisis and analyzes of positive staphylo and pseudomonas in sputum, we carried out a sweat test. Unfortunately the data are not usable because not enough sweat. We have to do it again. My question is: if my daughter does not produce sweat again, what solutions do we have to establish or not for the diagnosis of CF?
14.02.2017
Xolair (Omalizumab)
Hello, At the 3rd injection of Xolair, the result obtained is very encouraging. What is the expected benefit at the end of treatment (6 months)? Aspergillus IgE is 800.
14.02.2017
Atelectasis
Hello, could you please tell me the difference between atelectasis and bronchiectasia. Best regards.
14.02.2017
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