Topics

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 ...
09.09.2013
Possible medicamentous treatment of this form of mutation?
Dear expert team, I have already asked a question about the respective CF mutation form of my son; many thanks for the extensive answer (see below). Now, I would also like to know if there will be a medicamentous treatment for my son’s mutation form in the near future? Best ...
31.07.2013
D1152H and G85E
Hello, my son (5 months plus) has inherited the D1152H and G85E mutations. His sweat test at 14 days old came back borderline at 33. His first two fecal elastase tests came back borderline, but his most recent test came back normal. Overall he has been healthy thus far. Any info on these two ...
31.07.2013
Mutations del F508 and 4382del
What are the implications of having the combo of these 2 mutations for my niece in terms of physical effects, severity or mildness, and outcome? I have found only a little on the 4382del mutation on the internet and 2 individuals are living past their 50s. Thank you for any and all information ...
31.07.2013
Negative for R117H, positive for 5T
Hello Doctor, We are trying to find as many information possible about this, because we are going to do IVF in the next weeks. Both myself and my husband tested positive for the 5T allele, but negative for the rest. I was wondering what are our risks for our baby? All that I found is that we have ...
12.08.2013
how serious
my daughter has G551D and 3659del c. How severe is this?
29.07.2013
Prenatal diagnosis
Hello, we are a couple desiring a child. I'm Breton [inhabitant of Brittany, a region in France] and my husband has a cousin who has CF. Is it necessary to make an ante-natal or prenatal screening or a specific follow-up? Thank you.
30.07.2013
Question on the genetic testing of the sibling/carrier yes or no?
Hello, we have a child with CF, as mutation deltaF508 homozygously has been detected. A genetic testing of us parents revealed, that my husband, as well as me are carriers of the deltaF508. Now a genetic testing of our second child had been initiated. CF had been excluded via sweat test. ...
15.07.2013
newborn with Del f508 and 5T-TG12
Hello My baby boy was screened in California and tested positive for Del F508 and 5T-TG12 variant. His initial sweat test was 20 at 5 weeks of age. Therefore, he is not classified as CF but will be monitored throughout his life. I understand his mutations can put him into a healthy or mildly sick ...
15.07.2013
Diagnosis
Hello, our son was born via cesarian section due to fetal ascites in case of meconium peritonitis due to meconium ileus and volvulus. The genetic investigation showed a mutation in exon 10 of the CFTR gen c 1521_1523del (p.Phe508del) and in intron 10 of the CFTR gene c1585-1G>A (c1717-1G>A) ...
15.07.2013
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