Cystic fibrosis is an autosomal recessive disease typically diagnosed in early childhood secondary to pulmonary manifestations. We present the unusual case of a 20-year-old man being diagnosed with cystic fibrosis after he was incidentally noted to have an atrophic pancreas on magnetic resonance cholangiopancreatography. He had no sign of chronic pancreatitis or symptoms of exocrine pancreatic insufficiency. As pancreatic atrophy is rare in young adults, the patient was evaluated for cystic fibrosis by genetic testing and the patient was noted to have the deltaF508 and p.R347L mutations of the cystic fibrosis transmembrane receptor. The patient was counseled on the implications of these findings for his potential children, but no treatment was undertaken at this time.
|Number of pages||4|
|Journal||Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public Health|
|State||Published - Jun 2012|