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My sister has atypical cystic fibrosis. When I have heard about her illness for the first time I did not know what it is. Then I have started to look for the atypical cystic fibrosis in the literature. Now I know what cystic fibrosis is, but I don't know anything about atypical kind of it. Can you help me with this?

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I am glad to be of some use. I am a medical student. Atypical cystic fibrosis has only a single symptom of cystic fibrosis. Pancreatitis, for example. It is caused by cystic fibrosis transmembrane regulator (CFTR) gene mutations. Characteristics of this condition are: pancreatic insufficiency, chronic Sino-pulmonary disease, gastrointestinal/nutritional abnormalities, meconium ileus, salt-loss syndromes and sometimes male infertility.
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My son is 9 years old and has acute pancretitis. He had an episode at the age 7 and 9. We recently went to Riley Hospital and had lots of tests done. He has a mutation on his CF gene that they think is causing his pancreatits because all the other tests came back normal MRI, ERCP etc.
His sweat test was also normal. I'm not sure where to go with all of this infomation. I'm worried he will become diabetic and have many more problems. I have researched atyipcal CF and I understand that they will probably treat the symptoms of the Pancreatits as they occur. They have also said he has a postive antibody for Celiac Diesease. The biopsy results are still out on that test. Wanting any advise from anyone on what to do now. If there's anything else we can do or just wait.
Michelle
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I first had pancreatitis when I was 13 years old and have had it since, there are more in depth genetic tests if you havent done them already for the CF gene. Ambry Genetics or University of Miami will do them, they seem to test in excess of 2000 genes. might be worth having a look at that
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