Topics

Mutation V470M homozygous
Dear expert team, My 5-month-old niece was diagnosed with the V470M homozygous mutation. Polymorphism: In3: c.274-179G>A (rs1429566)- homozygous In9: c.1210-13G>T (RS10229820)- heterozygous I have not been able to find any hits on the internet; I assume it is a rare mutation, since our ...
30.08.2011
False positive sweat test
My son has had four suspicious sweat tests (last 96). The simple gene test was negative. He has to go to a specialist clinic now to have another gene test done. My question: how is he to have cystic fibrosis after all? Here still some information and answers.... My son is 12 years old. He has ...
30.08.2011
CFTR related disorder
Since some years, my 12 year old son has recurrent lung infection with production of sputum and slow regression of symptoms. He was admitted to hospital and had several courses of IV antibiotics. Now, for the second time, he had a pseudomonas infection. After many examinations, all known ...
05.08.2011
Prenatal diagnosis
I would like to know whether CF can already be diagnosed when the mother is still pregnant.
26.05.2011
cystic fibrosis-sweat test
I have a 9 year old daughter with diarrhea since birth, the genetic test was negative for 29 mutations, but the symptoms and the sweat test was 68 NaCl, 58 and the lowest value 48 NaCl. How many registered patients have a positive genetic test? My daughter also has respiratory tract infection with ...
07.06.2011
neonatal screening result
Hello! My daughter is 5 week and 2 days old at the time that I’m writing you. At the neonatal screening, the value of immunoreactive trypsin was 64.9, and at the age of 4 weeks and a half, we repeated the analysis and the value was 1024 (400 being the maximum for that age). In both cases the ...
26.05.2011
question
Hello! My name is Golita Nicoleta and I live in Galati. My daughter is 15 month old and after chronic diarrhea she took a sweat test and the value of the test was 48 mmol/l. After 2 weeks we went to another center where we repeated this test and the result was 64 mmol/l. Because she was symptomatic ...
07.06.2011
the level of serum cortisol and the result of pilocarpine iontophoresis
In my adult child with suspicion of CF the level of serum cortisol at 8.00 a.m. was 570 nmol/l. The day before pilocarpine iontophoresis was done and the result was low - 33 mmol/l. The result of pilocarpine iontophoresis, which was done 3 years ago, was 77 and 6 months ago - 57. Can the level of ...
10.05.2011
Wrinkling and painful skin of the hands after shower or bath
Hello, My son has always had very quickly fripent fingers, with strong tingling, pain and even cracks. His skin becomes white and granular and may even goes in powder if he rubs his hands. It's more or less pronounced according to times / periods. It makes me too, like almost everybody. We are not ...
03.05.2011
Obstipation, reflux
Since birth we worry about our little boy. He is 6,5 months old and it so happens that he has gastroesophageal reflux and constipation. He also coughs a lot and appears to have swollen tonsils. My nephew has CF. Our little boy is growing well. Do you think we check whether he has CF?
03.05.2011
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