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Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
Mutation
- Question
- hello, I want to ask how severe is a mutations combination - compound heterozygout for F 508 del and 3849+10kbC>T and what course of the disease could we expect in future? these are mutations of my 1 year old daughter. Thank You for an answer.
- Answer
- Hello,
F508del/3849+10kbC>T genotype usually represents milder type of CF disease. Patients are usually pancreatic sufficient, that means their pancreas is working normally withnout need of pancreatic enzymes suplementation. And they have milder symptoms of respiratory disease. If they are found and treated early, the prognosis is good.
However, it is important to note that later in life some patients may become pancreatic insufficient and/or may develop a relatively severe pulmonary disease. Even if this concerns only a minority of patients with that combination of mutations, it is nevertheless important to have a good monitoring of the course of the disease.
Best regards, Miroslava Balascakova and Jitka Brazova - 30.07.2009
