[Cystic fibrosis presenting as acute recurrent pancreatitis].
Cystic fibrosis is a multiorgan autosomal recessive disease resulting from mutations in a gene located on the long arm of chromosome 7. The disease is usually diagnosed in the first few years of life when it typically presents with severe pulmonary manifestations and pancreatic insufficiency; however, a small percentage of patients with less dramatic symptoms is not diagnosed until adolescence or even adulthood. The genotype of each patient seems to influence the various forms of clinical presentation. Although uncommon, acute recurrent pancreatitis can be one of the forms of delayed presentation of cystic fibrosis. We report the case of an 17-year-old man who was diagnosed with cystic fibrosis after presenting 2 episodes of acute pancreatitis without associated pancreatic insufficiency. Subsequent study also revealed nasal polyps.
Foruny Olcina
J R
JR
Servicio de Gastroenterología, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Moreira Vicente
V F
VF
Maiz Caro
L
L
Carrera Alonso
E
E
Casals
T
T
D000208:Acute Disease; D000293:Adolescent; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010195:Pancreatitis / Q000209:etiology*; D012008:Recurrence