Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In childhood, aplastic anemia is a rare disease of unknown etiology. Besides toxic effects, also an infectious or an autoimmune origin are discussed. We report on an 8-year-old boy with very severe aplastic anemia (VSAA) who developed pancreatitis together with panniculitis. Initially, active cytomegalovirus (CMV) infection was thought to be possibly contributive. Ganciclovir was tried resulting in clearance of CMV, but VSAA persisted. Two months after the onset of VSAA, oligosymptomatic pancreatitis was observed together with the onset of severe febrile panniculitis, occurring with multiple painful enlarged subcutaneous infiltrates of up to 7 cm in diameter. Treatment according to the Severe Aplastic Anemia-94 (SAA-94) protocol consisting of glucocorticoids, cyclosporin A (CsA), anti-thymocyte globulin and granulocyte colony-stimulating factor was instituted. Since this treatment did not lead to remission after day 110, escalation of the CsA dose up to 8 mg/kg body weight was tried. This regimen resulted in complete recovery of panniculitis and symptoms of pancreatitis. Incomplete hematological remission was reached and, to date, the patient has not required transfusions for 6 months. Because this boy suffered simultaneously from three rare disorders, which all responded to intense immunosuppression, this observation may underline common autoimmune mechanisms of these distinct diseases.
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PMID:Panniculitis, pancreatitis and very severe aplastic anemia in childhood: a challenge to treat. 1113 23

Authors report two cases of childhood chronic pancreatitis, causing severe symptoms and common bile duct stenosis with cholestasis. Both patients had to be operated on. Chronic pancreatitis with calcification led to significant common bile duct stenosis in a 13 years old girl. After ERCP a double bypass procedure was performed (Wirsungo-jejunostomy and hepatico-jejunostomy). During 42 months follow-up the patient remained pain- and symptom-free gaining 16 kilograms. In a 9 years old girl severe stenosis of the intrapancreatic common bile duct and a small duct type chronic pancreatitis with extensive fibrosis was found. Treatment was Roux-en-Y hepatico-jejunostomy. Thirty-four months after the operation she is symptom-free with normal enzyme parameters. Authors report results of genetic investigations performed on registered chronic pancreatitis children and their families in Hungary, including the two operated cases. Two of the 5 patients were hereditary type, despite negative family history. Cationic trypsinogen gene R122H (R117H) mutation were detected in both patients. Chronic non-hereditary pancreatitis is a very rare disease in childhood but may cause severe secondary conditions requiring surgery.
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PMID:[Cholestasis caused by chronic pancreatitis in childhood. Surgical treatment and genetic analysis]. 1129 60

Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.
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PMID:Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. 1134 41

Milk of calcium cholecystitis is a rare disease predominantely of adults. The term designates a pathologic accumulation of calcium carbonate in the gallbladder, much rarer in the common bile duct as well. The patient may be symptom-free. If present the symptoms may be very mild or as an acute biliary pain, transient jaundice and mild attack of pancreatitis. Calcium in the bile may be liquid or it may form a paste-like mass. Both may be seen on a plain X-ray of the abdomen. The stone or stones of calcium carbonate may be formed so that they may cause an obstruction of the gallbladder outflow tract or cystic duct or pass into the common bile duct or into the duodenum. [figure: see text] We present a 71 year old male who was admitted for inguinal hernia repair but in whom a mild hiperbilirubinaemia was found and then on ultrasonography a gallbladder stone was diagnosed. We performed a hernia repair as well as cholecystectomy and operative cholangiography which turn to be normal. Within an almost normal gallbladder a gray-whitesh paste-like mass was found composed of calcium carbonate. The postoperative recovery was uneventful and serum bilirubin become normal. Histology of gallbladder showed chronic nonspecific cholecystitis.
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PMID:[Cholecystitis associated with milk of calcium] ]. 1188 95

Non-occlusive mesenteric ischaemia is characterized by gastrointestinal ischaemia with normal vessels. In gastroenterology it is recognized as rare disease occasionally causing acute bowel infarction or ischaemic colitis. From intensive care literature this disorder is recognized as an early phenomenon during circulatory stress. This early mucosal ischaemia then leads to increased permeability, bacterial translocation, and further mucosal hypoperfusion. The damage is produced mainly during reperfusion following ischaemia with fresh inflow of oxygen and outflow of waste products into the systemic circulation. The mechanisms underlying non-occlusive mesenteric ischaemia include macrovascular vasoconstriction, hypoperfusion of the tips of the villi and shunting. It is very common in critically ill and perioperative patients, but also occurs in pancreatitis, renal failure and sepsis. Treatment options include aggressive fluid resuscitation and careful choice of vasoactive drugs. Control of reperfusion damage and new endothelin-antagonists are potentially useful new treatment options.
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PMID:Non-occlusive mesenteric ischaemia: a common disorder in gastroenterology and intensive care. 1276 7

Long-term, heavy alcohol consumption is associated with both acute and chronic pancreatitis. Progression of pancreatitis may lead to multiple comorbidities including maldigestion, diabetes, and pancreatic cancer. Understanding the underlying molecular, biochemical, and cellular mechanisms by which alcohol ingestion leads to the development of pancreatitis may help to develop strategies for the treatment and prevention of the disease. The National Institute on Alcohol Abuse and Alcoholism and the Office of Rare Diseases of National Institutes of Health sponsored a satellite symposium on "Mechanisms of Alcoholic Pancreatitis" at the annual meeting of the American Pancreatic Association, Chicago, IL, November 2002. For this symposium, 8 speakers were invited to address the following issues: (1) epidemiology of alcoholic pancreatitis; (2) pathophysiology of alcoholic pancreatitis; (3) animal models of alcoholic pancreatitis--roles of cholecystokinin (CCK) and viral infections; (4) alcohol and zymogen activation in the pancreatic acinar cell; (5) role of alcohol metabolism in alcoholic pancreatitis; (6) pancreatic stellate cell activation in alcoholic pancreatitis; and (7) genetic predisposition to alcoholic chronic pancreatitis. It was concluded that alcohol abuse is a major contributory factor to the development of both acute and chronic pancreatitis. The injurious effects of ethanol on the pancreas may be mediated through (1) sensitization of acinar cells to CCK-induced premature activation of zymogens; (2) potentiation of the effect of CCK on the activation of transcription factors, nuclear factor kappaB (NF-kappaB) and activating protein-1 (AP-1); (3) generation of toxic metabolites such as acetaldehyde and fatty acid ethyl esters; (4) sensitization of the pancreas to the toxic effects of coxsackievirus B3; and (5) activation of pancreatic stellate cells by acetaldehyde and oxidative stress and subsequent increased production of collagen and other matrix proteins.
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PMID:Mechanisms of alcoholic pancreatitis. Proceedings of a conference. Chicago, Illinois, USA, November 2002. 1457 87

The paper presents the case of a 61 year-old man on with a rare disease--insulinoma of the pancreas. The tumor was discovered accidentally and it displayed no hormonal symptoms. The abdominal pain that the patient had suffered from was probably caused by the inflammatory tumor localized in the sigmoid as the result of diverticulitis. As the patient had no defecation problems, concentration was placed preoperatively on pancreas tumor diagnosis. During the operation the pancreas tumor as well as the sigmoid tumor were resected. Implantation of the whole profile of pancreas tail to the stomach was performed. This method permits for further diagnostics (gastroscopy, ERCP). The man had no diabetes, the blood glucose level was normal. The alimentary tract from the stomach to the duodenum was kept and the pancreas secretory function was acceptable. Colonoscopy in 2002 did not show any pathological changes. One month after the operation the patient suffered from pancreatitis which was localized in the head of the pancreas. Medical treatment relieved all symptoms, but then the cyst in the pancreas head appeared as a sequela. The patient would not agree to its puncture. The inflammatory process in the head of the pancreas may have resulted from surgical treatment, although ERCP showed no passage obstruction between this part of the pancreas and the duodenum. The patient is still on follow-up.
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PMID:[A case of patient with insulinoma of the pancreas anl infammatory tumor of the sigmoid colon-one-step operation treatment]. 1585 Mar 48

Pancreatic arteriovenous malformation (AVM) is a relatively rare disease. Based on our literature search, 51 cases of pancreatic AVM have been reported since 1968. The gastrointestinal bleeding is the most common presenting symptom (24/51 cases [47%]). There were only 6 cases of pancreatitis in these cases. We describe 2 cases of acute pancretitis with pancreatic AVM. The patients who were diagnosed with acute pancreatitis were admitted to our hospital. Pancreatitis was considered to be caused by pancreatic AVM by some modalities of diagnostic imaging. The respective pancreatic AVM lesions of patients were resected to prevent the recurrence of pancreatitis. They are asymptomatic after the surgery. Pancreatic AVM is thought to be the one of the reasons for acute pancreatitis.
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PMID:Acute pancreatitis due to pancreatic arteriovenous malformation: 2 case reports and review of the literature. 1667 Jun 26

Eosinophilic pancreatitis (EP) is a rare disease. It typically occurs in the setting of either eosinophilic gastroenteritis or the hypereosinophilic syndrome. Isolated eosinophilic infiltration of the pancreas is less common. EP usually presents as a pancreatic tumour with abdominal pain and/or obstructive jaundice. The diagnosis is often not made until after pancreatic resection under suspicion of a pancreatic tumour. The case of a 14-year-old boy whose initial presentation was suggestive of a pancreatic tumour is reported. Radiological evaluation revealed a pancreatic mass suggestive of a pancreatic tumour obstructing the duodenum and common bile duct. The patient underwent surgery and a gastrojejunal anostomosis, tube cholecystostomy and biopsy were performed with no postoperative complications. The diagnosis of EP was established after surgical biopsy. The biopsy specimen revealed prominent eosinophilic infiltration. Serum immunoglobulin E levels were elevated. The patient was treated with oral prednisolone (40 mg/day). After two months of oral steroid therapy, clinical manifestations rapidly improved and peripheral eosinophilia subsided. Computed tomography scan revealed remission of the pancreatic mass-like lesion.
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PMID:Eosinophilic pancreatitis mimicking pancreatic neoplasia. 1669 4

In 1958 Caroli described a rare disease with multifocal, segmental and saccular dilation of the large intrahepatic bile ducts which causes stagnation of bile and formation of bile sludge and stones. This results in recurrent abdominal pain, cholangitis and hepatic abscesses. The diagnosis is confirmed with endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) and the purpose of treatment is to restore normal bile flow. Partial resection of the liver has given good results in patient with localized disease. The prognosis is poor despite drainage of bile and 46% of patients die from sepsis, hepatic abscesses, hepatic failure or portal hypertension. There is more than a hundred fold risk of cholangiocarcinoma. We report a case where a male who had a history of recurrent bouts of abdominal pain and pancreatitis was diagnosed with Caroli's disease. He later developed cholangiocarcinoma. Caroli's disease has not, to our knowledge, been reported in Iceland before.
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PMID:[Caroli's disease, case report and review of the literature]. 1782


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