Pancreatitis Of Unknown Origin Research Articles

Acute pancreatitis of unknown origin and idiopathic juvenile pancreatitis in Sweden

Acute pancreatitis of unknown origin and idiopathic juvenile pancreatitis in Sweden

Recurrent acute pancreatitis in a Saudi child with isovaleric acidemia

Isovaleric acidemia (IVA), also known as the sweaty foot syndrome, is an autosomal recessive organic acid disorder due to a defect in the mitochondrial Flavin Adenine Dinucleotide (FAD)-dependent enzyme isovaleryl CoA dehydrogenase. Acute pancreatitis as a complication has been reported. We are presenting a rare case of recurrent acute pancreatitis complicating a 9-year-old girl with IVA. She presented with repeated attacks of vomiting, severe abdominal pain, and fever since the age of 18 months. These were diagnosed as attacks of pancreatitis with high serum amylase presenting clinically as diabetic ketoacidosis. Later, she developed chronic pancreatitis which is proved by lapratomy. In the last attack, she was comatosed with fulminant sepsis and sooner the patient died. Blood sample taken during this last attack confirmed the diagnosis of IVA. An inborn error of organic acid metabolism should be considered in children with pancreatitis of unknown origin.

Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia

Isovaleric acidemia is a rare branched-chain organic acidemia. The authors describe a 3.5-year-old girl with isovaleric acidemia and acute abdominal pain associated with bilious emesis. Elevated serum amylase and abdominal ultrasonography demonstrating an enlarged and edematous pancreas, along with the presence of peripancreatic exudates, confirmed the presence of acute pancreatitis. The patient recovered quickly with intravenous hydration, pancreatic rest, and administration of intravenous L-carnitine. Pancreatitis should be ruled out in the context of vomiting in any patient with isovaleric acidemia. Conversely, branched-chain organic acidemias should be included in the differential diagnosis of any child with pancreatitis of unknown origin.

Genetic, Epidemiological, and Clinical Aspects of Hereditary Pancreatitis: A Population-Based Cohort Study in Denmark

In a population-based, well-defined group of patients first regarded as having pancreatitis of unknown origin (PUO), we identified, described, and compared the clinical and genetic aspects of patients with hereditary pancreatitis (HP) and with cystic fibrosis transmembrane conductance regulator gene (CFTR) and serine protease inhibitor Kazal type 1 gene (SPINK1) mutations with patients who retained the diagnosis of true idiopathic pancreatitis (tIP) after genetic testing for HP, SPINK1, and CFTR mutations. Patients with PUO were identified in the Danish National Registry of Patients or were referred by clinicians. DNA from blood was analyzed for cationic trypsinogen (PRSS1), SPINK1, and CFTR mutations. Considering the diagnosis of HP, a pedigree was drawn for each patient. A genetic mutation was found in 40% of 122 patients with PUO. After testing first-degree relatives of the 18 initially identified HP patients, 38 HP patients in total were identified, and 28 patients had SPINK1-CFTR mutations. Among HP patients, no p.N29I mutations were found and the p.A16V mutation was more frequent than previously reported, 45 and 32% had exocrine and endocrine insufficiency, respectively, and among tIP patients 9 and 12%, respectively. Pancreatic cancer was diagnosed in 5% of the HP families. The genotype of the Danish population with HP differs from that of previously described cohorts. The occurrence of exocrine and endocrine insufficiency is higher among patients with HP than in patients with SPINK1-CFTR mutations and tIP, and more HP families develop pancreatic cancer. Genetic testing thus helps to predict the prognosis of the pancreatitis.

Cytodiagnosis of bile microspheroliths: A case report

We recently observed numerous microspheroliths consisting of microscopic organized crystalline structures of varying shapes, sizes, and colors in a bile specimen from a 65-yr-old woman obtained directly from the gallbladder during a surgical procedure for cholecystectomy. Detection of microspheroliths could be very useful in the diagnostic approach to patients with recurrent pain in the biliary region or with acute pancreatitis of unknown origin. To date, we are unaware of any cytologic reports describing microspheroliths in bile.

Pancreatitis in patients with organic acidemias

Study objective: The discovery of pancreatitis in two children with methylmalonic acidemia led us to review the experience with pancreatitis in a large number of patients with organic acidemias to determine whether pancreatitis is an important complication of these disorders. Design: Case series. Setting: Pediatric metabolism services at five tertiary care centers. Patients: Records of all patients with organic acidemias followed at the five institutions during the past 10 years were reviewed. Pancreatitis was recognized by symptoms and laboratory findings and confirmed by imaging studies, surgery, or autopsy. At three institutions all cases of pancreatitis in children younger than 10 years were reviewed. Measurements and results: Nine children with pancreatitis (seven with acute and two with chronic cases) were identified among 108 children with branched-chain organic acidemias. They ranged in age from 13 months to 9 years. Five had methylmalonic acidemia, three had isovaleric acidemia, and one had maple syrup urine disease. There were three deaths; acute hemorrhagic pancreatitis occurred in two children, and chronic pancreatitis was found at autopsy in a third. All three patients with isovaleric acidemia and pancreatitis were identified after the occurrence of pancreatitis. The survey of pancreatitis at three institutions found 57 other patients (none with an inborn error) in addition to three patients with inborn errors included in this study. Conclusions: Acute or chronic pancreatitis may complicate branched-chain organic acidemias and must be considered in the assessment of patients with these disorders who have acute clinical deterioration and vomiting, abdominal pain, encephalopathy or shock, or milder symptoms. Conversely, an inborn error of organic acid metabolism should be considered in children with pancreatitis of unknown origin. (J P EDIATR 1994;124:239-43)