My five year old son just had genetic tests done as he has Autism and Epilepsy and where looking for a cause.
The test came back and there was no genetic cause found for the Autism and Epilepsy but the test show that he is missing one of his PRSS1 geans and the dr was asking if there was a history of genetic pancreattitis wich there is no none histroy of it i have always had a senstive stomach but nothing serious so what is the best way to go about it what do i need to do now
Hereditary pancreatitis caused by mutations in the PRSS1 gene is a very rare disease. Moreover, only very specific mutations in this gene are known to be associated with hereditary pancreatitis. In patient who have inherited these specific PRSS1 gene mutations, about 80% percent of them will go on to develop chronic pancreatitis.
Most patients with hereditary pancreatitis will develop symptoms of pancreatitis by age 20 (though in some patients, the diagnosis may come later in life). Other than avoiding alcohol and tobacco, there is no known way to prevent or cure hereditary pancreatitis.
Certainly, your son should be closely followed by a Gastroenterologist with expertise in managing chronic pancreatitis, should your he go on to develop this problem. (If he has one of the PRSS1 gene mutations associated with this disease, then I hope that he will be one of the 20% of affected patients who do not go on to develop pancreatitis.)
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