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)

A 58-year-old man with an abscess of the psoas muscle was returned to our hospital with hematemesis. Two years earlier, he had undergone coil embolization for a superior mesenteric artery (SMA) pseudoaneurysm secondary to pancreatitis. Based on the physical examination, serum amylase level, and abdominal radiographs, a diagnosis of acute exacerbation of pancreatitis and coil compaction of the SMA pseudoaneurysm was made. The patient underwent re-embolization for the coil compaction using interlocking detachable coils. His condition improved gradually, and he was discharged 3 weeks later. To our knowledge, this is the first report of coil compaction of SMA pseudoaneurysm.
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PMID:Coil compaction after embolization of the superior mesenteric artery pseudoaneurysm. 1252 38

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia occurring in the first few weeks of life. It can be either transient (TNDM) or permanent (PNDM). A 25 days old newborn was brought to the hospital with restlessness, respiratory depression and cyanosis. He was born at term with a birth weight of 2,000 g. There was no consanguinity between his parents. His physical examination findings were as follows: Weight and height were under 3th percentile, he was hypoactive and dehydrated. Serum glucose level was 800 mg/dl; C-peptide was 0.41 ng/ml. Upon investigation for dyslipidemia in association with his neonatal diabetes, hyperchylomicronemia was found both in the patient and his father. Pancreatitis, anemia and cholestasis were also observed. Insulin treatment was started for his diabetes together with a special diet for dyslipidemia. At the end of 28 months of follow-up, dyslipidemia has resolved but the need for insulin therapy was still existing. However, TNDM was considered in differential diagnosis because he was small for gestational age (SGA) at birth and his symptoms had started at the 25th day of the neonatal period. Delayed recovery from insulin dependency brought out the possibility of PNDM. Furthermore, neonatal diabetes combined with hypechylomicronemia is a rare clinical picture. Reported cases of NDM with different clinical evaluation will help to better understanding of this disorder.
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PMID:Neonatal diabetes with hyperchylomicronemia. 1255 65

A 44-year-old Japanese man was diagnosed to have Zollinger-Ellison syndrome. His main complaint was anemia due to gastrointestinal bleeding. After performing gastrointestinal endoscopy, duodenal ulcers were found located in the posterior wall of the duodenal bulbus. Three months before presentation, he had undergone surgery at our hospital due to acute bleeding pancreatitis. A case of Zollinger-Ellison syndrome with acute bleeding pancreatitis is rare, and there have so far been few reports of such cases in the English medical literature.
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PMID:The Zollinger-Ellison syndrome with acute bleeding pancreatitis. 1274 40

Treatment of "forme fruste" choledochal cyst (FFCC) where pancreaticobiliary malunion (PBMU) is associated with minimal dilatation of the common bile duct (CBD) remains controversial. PBMU allows pancreaticobiliary reflux to occur, which causes complications such as recurrent pancreatitis and gallbladder cancer. Therefore, some surgeons opt to treat FFCC by cholecystectomy alone in order to prevent gallbladder cancer, with the result that pancreaticobiliary reflux could still occur. Our treatment of choice-excision of both the CBD and the gallbladder, followed by Roux-en-Y hepatico-jejunostomy-can eliminate pancreaticobiliary reflux and prevent complications. Our case, a 2-year-old boy, initially presented to a hospital abroad with recurrent abdominal pain. Endoscopic retrograde cholangiopancreatography showed massive protein plugs impacted in the papilla of Vater and mild CBD dilatation, but PBMU was not identified. Intraoperative cholangiography performed during laparotomy 5 days later suggested PBMU with minimal CBD dilatation. Despite these findings, cholecystectomy with T-tube drainage was performed rather than CBD excision with biliary reconstruction. Postoperative T-tube cholangiography clearly showed PBMU. The T-tube was removed after 2 weeks, and 3 months later the boy was referred to us because of recurrent pancreatitis. We performed CBD excision and Roux-en-Y hepatico-jejunostomy. His postoperative course was uneventful, and he is well after 10 years of follow-up. This case provides strong evidence that CBD excision with biliary reconstruction is mandatory for treating FFCC and, conversely, that cholecystectomy alone is inadequate for treating children with FFCC.
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PMID:Cholecystectomy alone is inadequate for treating forme fruste choledochal cyst: evidence from a rare but important case report. 1531 25

Several paraneoplastic inflammatory conditions, particularly autoimmune diseases, have been described in association with myelodysplastic syndromes (MDS). However, to date, recurrent acute pancreatitis has never been described in association with MDS. A 44-year-old man presented with prolonged fever and fatigue. Aortitis and pericarditis were diagnosed simultaneously with MDS, refractory anemia with excess blast type 2. His erythrocyte sedimentation rate and c-reactive protein were markedly elevated. The vasculitic syndrome responded rapidly to corticosteroids, but soon after tapering of corticosteroids, acute pancreatitis developed. Pain and pancreatic enzymes, however, improved rapidly with escalation of corticosteroid dosage. Multiple attempts at discontinuing the drug resulted in symptomatic flare-ups. Finally, his MDS transformed into acute myeloid leukemia (AML); severe acute pancreatitis closely accompanied. Induction chemotherapy and high-dose corticosteroids, however, controlled both conditions. A subsequent pancreatitis attack with pseudocyst formation occurred, but again was controlled with corticosteroids, although this was followed closely by another relapse of AML. All etiologies for recurrent acute pancreatitis were ruled out. The dramatic response of his pancreatitis attacks to immunosuppression suggested its autoimmune origin, while the close relationship in both the timing and severity of acute pancreatitis and MDS/AML suggested that the autoimmune pancreatitis was a paraneoplastic phenomenon related to MDS.
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PMID:Recurrent steroid-responsive pancreatitis associated with myelodysplastic syndrome and transformations. 1562 95

Hereditary pancreatitis is a rare autosomal dominant inherited disease with 80% penetration rate. The disease is characterized by recurrent episodes of pancreatitis often beginning in childhood, positive family history with at least two other affected members and no known precipitating factors. Most forms of hereditary pancreatitis are caused by one of two commoner mutations, R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. These genetic defects are speculated to cause excessive trypsin activity or to prevent inactivation of prematurely activated trypsin, resulting in pancreatitis. We performed mutation analysis of a Korean family with two members having clinically suspicious hereditary pancreatitis. We analyzed the CT gene in DNA samples extracted from peripheral blood of five family members. First of all, polymerase chain reaction and restriction enzyme digestion were performed in exon 3 of the CT gene. And then DNA products were purified and sequenced. We found out that three members of the family, the mother and two daughters, had a R122H mutation of the CT gene. We report the first family of hereditary pancreatitis associated with the CT gene mutation, an arginine to histidine amino acid substitution at residue 122, in Korea.
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PMID:[A case of R122H mutation of cationic trypsinogen gene in a pediatric patient with hereditary pancreatitis complicated by pseudocyst and hemosuccus pancreaticus]. 1572 20

Mesenteric vein thrombosis is an uncommon manifestation of hypercoagulable states. A case is reported of superior mesenteric vein (SMV) thrombosis in a patient with pancreatitis and protein C deficiency. A discussion of SMV thrombosis identification, management, and outcomes is included. The patient presented with a significant history of alcohol abuse and constant, midepigastric abdominal pain associated with nausea and vomiting. Amylase and lipase were elevated, and the patient was treated for pancreatitis. His symptoms initially responded to intravenous fluid hydration, but soon his clinical picture worsened, with increased nausea and vomiting, abdominal pain, and distension. Contrasted computed tomography of the abdomen revealed SMV thrombosis. A hypercoagulable workup revealed protein C deficiency. After a 3-month course of oral anticoagulant therapy, the SMV thrombosis resolved.
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PMID:Mesenteric venous thrombosis in a patient with pancreatitis and protein C deficiency. 1575 57

Functional deficiency of lipoprotein lipase (LPL) was found in a patient with severe hypertriglyceridemia. The patient was 39-year-old man with a plasma triglyceride level of 2032 mg/dl, and suffered from recurrent pancreatitis. His post heparin plasma LPL mass was almost normal, but the LPL activity was remarkably decreased. Gene analysis showed that homozygote missense mutation (204 Asp (GAC)-Glu (GAG)) exists in exon 5 of LPL gene. The patient LPL purified from post heparin plasma scarcely hydrolyzed VLDL-triglyceride and also triolein emulsified with Triton X-100 or phosphatidylcholine. When phosphatidylethenolamine, phosphatidylserine and cardiolipin were used as an emulsifier for triolein, triolein-hydrolyzing activity of the patient's LPL was observed and was much higher than that of wild-type LPL. Mutant LPL gene (Asp204-Glu) was made by site-direct mutagenesis and was transfected to COS-1 cell. The expressed LPL (Asp204-Glu) also showed the same properties. These results suggested that the LPL (Asp204-Glu) is a functional deficiency, and the activity could be recovered by using acidic phospholipids as an emulsifier.
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PMID:The recovery of dysfunctional lipoprotein lipase (Asp204-Glu) activity by modification of substrate. 1587 72

The first family of hereditary pancreatitis was described in 1952. The mode of inheritance is autosomal dominant trait with an 80% of penetrance rate. Although hereditary pancreatitis is rare, this disorder has provided valuable insights in understanding the pathophysiology of pancreatitis and pancreatic cancer. The causative gene of hereditary pancreatitis was identified in 1996 through mutational analysis of genes within chromosome 7q35. Most forms of hereditary pancreatitis are caused by one of two common mutations, R122H in the third exon or N29I in the second exon of the cationic trypsinogen gene (protease serine 1, PRSS1). R122H mutation is the most common PRSS1 mutation. Additional mutations of the cationic trypsinogen gene have been described. In Korea, first family of hereditary pancreatitis with cationic trypsinogen gene mutation revealed an arginine to histidine amino acid substitution at the residue 122. Patients with hereditary pancreatitis present with symptoms at an early age and have significant risk for the development of chronic pancreatitis and pancreatic cancer. The risk of pancreatic cancer is estimated to be 53-fold higher after the age of 50 years than the general population. The risk of pancreatic cancer is not related to the type of mutation. Since hereditary pancreatitis is a strong risk factor for pancreatic cancer, it is important to establish a diagnostic criteria for diagnosis and surveillance. However, there are potential benefits, risks and limitations in genetic testing for hereditary pancreatitis. It is difficult to provide the proper treatment, but recent developments in therapeutic approaches may be helpful in caring hereditary pancreatitis. This article includes the current status, pathogenesis, clinical features, and management of hereditary pancreatitis including the aspects of pancreatic cancer.
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PMID:[Hereditary pancreatitis]. 1630 49

There is now increasing evidence that IgG4 is closely involved in idiopathic sclerosing lesions, such as sclerosing pancreatitis and sclerosing sialadenitis. In this report, we describe a case of IgG4-related retroperitoneal and mediastinal fibroses. A 52-year-old man presented with dull back pain and was found to have a continuously surrounding paraaortic mass. A biopsy specimen taken from the retroperitoneum showed a diffuse lymphoplasmacytic infiltration intermixed with fibrosis. Many IgG4-positive plasma cells were demonstrated on immunostaining. His serum IgG4 concentration was 392 mg/dL (reference range, <70). We treated this patient with a corticosteroid, which markedly diminished the paraaortic mass along with lowering of his serum IgG4 concentration. The possible involvement of IgG4 was suggested in the pathogeneses of retroperitoneal and mediastinal fibroses in this patient. IgG4 might be useful in the clinical management of retroperitoneal or mediastinal fibrosis to differentiate them from malignant tumors and predict steroid sensitivity.
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PMID:A case of retroperitoneal and mediastinal fibrosis exhibiting elevated levels of IgG4 in the absence of sclerosing pancreatitis (autoimmune pancreatitis). 1693 31


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