CFTR Mutations

Abstract

Acute pancreatitis (AP) is a rare association with Campylobacter jejuni (C. jejuni) enteritis. AP in association with another infectious illness like enteritis, may be related to an underlying genetic mutation. We report a patient with C. jejuni and AP, who was later found to have cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. A 15 yr old girl presented with abdominal pain and non bloody diarrhea for 8 days. She had a 5 lb weight loss, bilateral knee pain, 103.8°C fever and had used acetaminophen and ibuprofen. Past history was significant for poor growth, recurrent abdominal pain, and serum lipase elevated two fold normal on two occasions. Other tests in the past were a normal ultrasound and CT of abdomen, upper gastrointestinal and small bowel series, HIDA scan, celiac disease serology and duodenal biopsies. Sweat chloride test showed Na of 69 and Cl of 60 (N 0–40 mEq/L); pulmonary function tests, 72-h fecal fat, and fat soluble vitamin levels were normal. Family history revealed celiac disease in a cousin. She had unpasteurized milk 1 week prior to the acute illness. On admission her weight was <3% ile and exam revealed epigastric tenderness. Pertinent investigations were serum amylase of 103 (N < 90 IU/L) and lipase of 3,663 (N < 200 IU/L). Pain was managed with meperidine, feedings were held and intravenous fluids were started. Fasting lipid panel, repeat abdominal ultrasound and CT were normal. C. jejuni was detected on stool culture and she was treated with azithromycin for 7 days. She was pain free while she received nasojejunal nutrition with Ensure but notably serum amylase and lipase peaked to 554 & 21,047 respectively. Magnetic resonance cholangiopancreatography at this stage was normal. Furthermore, a buccal swab was performed for CF genetic mutation analysis; she was a compound heterozygote for R 117H, Δ F508 mutations. At 1 month follow-up, she remained asymptomatic on a regular diet and, serum amylase & lipase decreased to 308 & 650 respectively. CFTR mutations predispose to recurrent acute & chronic pancreatitis. In our patient with genetic predisposition to AP due to CFTR mutations, C. jejuni was thought to be an environmental modifier in initiating the acute episode.