Topics

Borderline sweat test
My four year old son has low growth issues. His height is 1.03, his weight 15.8 kgr. In height he is in the same percentile consistently, whereas he has dropped from the 75th to the 25th weight percentile. He has been ill 4 times with a viral infection. He has never taken inhaled medicines and ...
25.03.2013
Possibility for CF
My son is four years old and did a blood test for CF when he was born, which came out negative. He is a happy, energetic child and has been ill only 4-5 times with fever and cough. However, his growth is not normal. He has dropped from the 75th percentile to the 25th. The allergologist recommended ...
25.03.2013
Diagnosis
Hello, I have a big problem, my son, who is 6 years old, was born in the 27th week of gestation. He had problems with bowel movments from the first day on and was not able to evacuate his meconium. On the third day after his birth the doctors wrote down the following: "Extremely dilated bowel ...
14.03.2013
Positive sweat test
Hello, I am 29 years old and in 2012 I had two positive sweat tests at 96 mmol / L. Genetic tests have been made by the laboratory from Créteil, but no abnormalities were detected. I have got a significant pulmonary impairment since 1999, including bronchiectasis. Pulmonologists' opinions differ. ...
28.02.2013
Diagnostics / Desire for a child
I am a German gynecologist and have a medical practice in France. I have a patient who has a desire for a child and whose sister has CF. Which diagnostics should be made?
26.02.2013
Bronchiolotis and sweat test
I have a son who is 8 months old. He has been hospitalized for bronchiolitis at the age of three months and a month ago suffered a second bronchiolitis which was treated with salbutamol and fluticason. He has a permanent cough since he was born. When he was three months old he had diarrhea, which ...
04.02.2013
Rare CF mutation risks?
What is the risk for a white British male having a rare mutated CF gene? The 50 most common have been tested for and have come back as clear for mutations. I have recently been found to be a carrier of a common mutation following blood tests after my baby was diagnosed as having an echogenic ...
18.02.2013
Hyperechogenic bowel diagnosed in the 31. week of gestation
Dear expert team, I am mother of a child suffering from CF. After 12 years I am pregnant again (however in my second marriage, that means the father of the child is not the father of my child with CF). Unfortunately, at the 3rd detailed preventive chek-up a hyperechognic bowel with dilated ...
22.01.2013
CF testing
I have a child with asthma 5.5 years old, 101 cm tall, weight 14 kgrs, born premature with birth weight 2100 grs. Due to low growth we did a sweat test at Hippokration Hospital, Thessaloniki, which was negative (26 mmol/lt). I was checked for CF mutations with negative results. Would you recommend ...
22.01.2013
trypsin normal values
What are the normal values for the stool trypsin, in order to exclude CF? My child's values was 1/400.
22.01.2013
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