Topics

CF Diagnosis
My nephew has recently been diagnosed with cystic fibrosis. This has been devasting news for the entire family. The genetic report received reads as follows: This individual is heterozygous for both the p.R1088C and p.G542X mutations in the CFTR gene. The combination of these mutations would be expected to cause cystic fibrosis or a CFTR related disease if they are on different chromosomes. (in trans). However the severity of the disease cannot be predicted. Family studies would be necessary to determine if these mutations are on the same chromosome (in cia or trans). I would highly appreciate if you can shed some more light on this report or provide any recomendations.
11.09.2013
Bluish toenails
Hello, I have cystic fibrosis, am 35 years old and have an FEV 1 of 85%. However, I always have bluish toenails without other findings; oxygen saturation is alright. What can be the reason for this? Is this critical?
11.09.2013
Two Class I mutations
Hi our son has two class one mutations, 3659delC and 2183AA>G. My research has shown that these are both frame shift mutations. Are there any drugs or studies for people with two Class I mutations?
11.09.2013
Mould fungus Scedosporium
Hello team, I am 38 years old and have CF. A couple of days ago I had the lung findings of scedosporium mould fungus. My physician said that this fungus cannot be treated. Is there a treatment anyhow or can I hope that the fungus disappears without treatment? The only symptom is increased cough. Best regards, S.
11.09.2013
ABPA
My 15-year-old daughter (CF) was diagnosed with ABPA. We could not find the source of the mould. Now we want to buy a new mattress for her bed. I had a memory foam mattress in mind, however when testing, my daughter preferred an innerspring mattress and would like to buy this one. Is there a recommendation concerning ABPA?
11.09.2013
CF test?
As part of an infertility treatment it was found out by a gene test that my husband has a genetic disposition for cystic fibrosis. After ICSI (Intracytoplasmic sperm injection) we have a daughter. Besides a chronic recurring sinusitis with very viscous mucus she has no signs of a disease. I do not have a disposition for CF, therefore she can only have one disposition for it. Or should we have her tested anyway?
11.09.2013
Cystic fibrosis
I do not know if I am right here, however I am desperate at the moment and do not know what to do next. In my son, 2.5 years old, the mutations Q1035X in the CFTR data base and D1152H in the CFTR as well as in the CFTR 2 data base have been detected (after 4 negative sweat tests). What does this mean for us, will our child be severly ill or is that a mild form? What do we have to envisage, feel a bit left alone by the physicians. What about a further child, should we better leave it, respectively what about the case if I am already pregnant? I am sorry that I bother you with such questions, but I just do not know what to do next.
09.09.2013
Sweat test in case of atopic eczema
Recently, a sweat test has been performed to my son (2.5 years old)...because of suspicion of CF...result was 45mmol/l...he also has severe atopic eczema, I have read that in case of atopic eczema the value can also be wrong....have great fear and I am totally insecure...Therefore my question, if it would make sense to do another test???
19.08.2013
How would I benefit from the diagnosis of CF?
Hello, my physician assumes an atypical CF. I have an exocrine pancreatic insufficiency for years (elastase: 65), partly increased blood sugar. Even after removal of the gall bladder I still had gallbladder sludge in the bile duct. Now a fat liver has to be added, even if I do not eat food rich in fat nor in carbohydrates (due to the pancreas) or have otherwise any risk factors. In addition, I have a problem with salt. I have to eat enough salt at each day, now in the summer have to take additional salt tablets, as I am doing very bad otherwise. In addition, I have constipation regularly. Until now a chronic pancreatitis has been suspected. I am 40 years old, female, BMI 19.2. Medication: Pangrol® 40.000 (containing amylase, lipase, protease) at each meal, ursodeoxy cholic acid 400: 3x1, tramadol if needed, at the moment salt tablets. I have been in hospital two weeks ago, due to strong upper abdominal pain. My physician in charge there said, that I should see a human genetic specialist, due to suspicion of atypical CF. At a rehabilitation two years ago the doctors there also expressed this suspicion. My question: What is the good of the diagnosis atypical CF for me? As as far as I read, this cannot be treated (except for the drugs I already take) and I know that this genetic test is very expensive for the health insurance. Many thanks for your efforts! Best regards, Maria G.
19.08.2013
Diagnosis cystic fibrosis in case of long-lasting irritable colon?
Hello, I am 26 years old, female and have since about 8 years strong and increasing complaints concerning the digestion. These are getting more and more worse and express themselves in chronic obstipation, which is hard to treat inspite of the use of Macrogol and MCP (Metoclopramid) and I have strong flatulences. Furthermore, in the last years additionally phases with strong bowel obstruction occurred, that expressed themselves with pain, a strongly distended abdomen and retention of stool and they partly persisted for weeks. I am a bit underweight for still a long time, at the moment my BMI is 16,8. My sister also has problems with her digestion. Our blood-related cousine died of cystic fibrosis, our father could be a potential genetic carrier. Until now, my diagnosis is called simply irritable colon syndrome, however I am more and more worried and ask myself, if I should be tested for CF or if the diagnosis is very, very improbable.
15.08.2013
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