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Premature baby and meconium plug
I gave birth to twin boys at 28 weeks of gestation. After 23 days twin B was submitted to surgery due to meconium ileus. He was fed through IV for two months. He presented with severe cholestasis, which he overcame after two months. 5 days ago we did an ultrasound investigation and he had ...
12.09.2013
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 ...
11.09.2013
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 ...
19.08.2013
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 ...
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 ...
15.08.2013
prenatal diagnosis
I read on INSERM [institue national de la santé et de la recherche médicale = French national institute for health and medical research] website that the ISET method developed by P.Paterlini-Brechot would be soon available. When? Thank you for your answer.
09.07.2013
CF
My little girl is 11 years old. In 2007 we went to Timisoara [Romania], to Dr. Zagorca Popa for CF. It all started at the age of 8 months with celiac disease, followed from the age of 5 by bacterial pneumonias. The genetic test was negative, but the sweat test was positive (68, 58). 5 years have ...
08.07.2013
Mild hyperechogenic bowel
I am 31 years old and did the second level ultrasound. It was concluded that the fetus has a mild hyperechogenic bowel. I was told the same thing for my first child 4 years ago. I had an amniocentesis and the baby was normal. What do you suggest I do?
02.07.2013
Hyperechogenic bowel
I am 30 years old and pregnant with my first child. I had the second level ultrasound and the doctor detected a hyperechogenic bowel. All the tests till now were good, but I was informed that the possibility for Down syndrome had risen from 1/19194 to 1/6398. The doctor said it may not mean ...
02.07.2013
Combination of mutations 5Τ/7Τ/9Τ
I have a three year old son (born premature and hospitalized for 2 weeks without respiratory problems). During my pregnancy I and my husband were checked for 36 CF mutations plus for 5T/7T/9T. I was found to be a carrier of 5T and 7T mutations and my husband of 7T and 9T (at intron 8). We were told ...
24.07.2013
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