Late Presentation of Cycstic Fibrosis as Pacreatitis in an Adolescent

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Journal of Investigative Medicine





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Case report Cystic fibrosis (CF) is a genetic disorder of significant pulmonary disease that is usually diagnosed within the first few years of life from newborn screenings or clinical findings such as meconium ileus, failure to thrive, or chronic lung disease. Recent studies have identified gene mutations that alter the cystic fibrosis transmembrane conductance regular (CFTR) protein responsible for the clinical findings of CF. Certain mutations that retain some function of the CFTR protein present with CF symptoms only when the CFTR protein fails to meet physiologic demands later in life. Further, each genetic mutation causes varying degrees of pathology that is specific to each tissue dependent on CFTR proteins. In this case, an adolescent male presented with chronic pancreatitis following a 3 year history of recurrent epigastric abdominal pain. He was found to have a positive sweat-chloride test diagnostic of CF, heterozygous CFTR mutations delta-F508/3849+10KbC >T, and normal pulmonary function test. The 3849+10KbC >T mutation is a splice mutation that results in fewer, but still functionally intact apical CFTR proteins, whereas the delta-F508 mutation results in loss of function of the CFTR protein. With preserved function, the 3849+10KbC >T mutation is associated with later presentation of CF symptoms in life. This patient’s unusual presentation of CF indicates that the CFTR protein may have different vulnerability to dysfunction in the pancreas than in the lungs. This case also demonstrates that the absence of pulmonary disease in childhood does not exclude the diagnosis of CF.


Medicine and Health Sciences



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