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

Background: Hereditary pancreatitis (HP) is an uncommon condition resulting from an imbalance of pancreatic proteases. Most commonly, protease serine 1 genetic mutations are causative for HP and often result in recurrent early onset episodes of acute pancreatitis typically progressing to chronic pancreatitis, with a high risk of pancreatic cancer. Case Presentation: A 46-year-old female with HP, confirmed by genetic testing, presented with a 7-month history of recurrent pancreatitis. She had previously undergone a distal pancreatectomy and Puestow procedure in 1992 at 21 years of age, after having pancreatitis as a teenager. The patient now had a completion pancreaticoduodenectomy and celiac ethanol nerve block. Conclusion: A completion pancreatectomy in patients with HP can be performed after previous pancreatic surgical intervention to treat disease manifestations and as a prophylaxis against an increased risk of pancreatic adenocarcinoma.
 ...
PMID:Completion Pancreaticoduodenectomy for Hereditary Pancreatitis After Prior Puestow Procedure: A Case Report. 3063 60

Based on the recognition of common etiological and genetic risk factors, acute and chronic pancreatitis are increasingly regarded as a continuum of the same disease, with a significant overlap of clinical manifestations and phenotypes but distinct morphological and imaging appearances. Recent population-based and cohort studies have found that tobacco smoke conveys a greater risk than immoderate alcohol consumption for the development of chronic pancreatitis, and hypertriglyceridemia has been identified as a risk factor for acute pancreatitis - even when plasma levels are only mildly elevated. Hereditary pancreatitis, in its autosomal dominant form, is associated with mutations in the cationic trypsinogen gene (PRSS1), whereas a number of germline variations in other genes have been found to represent risk factors for chronic as well as acute pancreatitis. For now, most of these involve the pancreatic digestive protease/antiprotease system. Oftentimes, affected patients are burdened with multiple or accumulating risk factors, and genetic traits when combined with environmental toxins compound the chance of developing the disease. Determining the underlying etiology of pancreatitis is worth the effort since formerly intractable varieties such as autoimmune pancreatitis are now becoming increasingly treatable, and subtype-specific therapeutic modalities may become available.
 ...
PMID:Etiology and Risk Factors of Acute and Chronic Pancreatitis. 3119 40

Currently, an effective targeted therapy for pancreatitis is lacking. Hereditary pancreatitis (HP) is a heritable, autosomal-dominant disorder with recurrent acute pancreatitis (AP) progressing to chronic pancreatitis (CP) and a markedly increased risk of pancreatic cancer. In 1996, mutations in PRSS1 were linked to the development of HP. Here, we developed a mouse model by inserting a full-length human PRSS1R122H gene, the most commonly mutated gene in human HP, into mice. Expression of PRSS1R122H protein in the pancreas markedly increased stress signaling pathways and exacerbated AP. After the attack of AP, all PRSS1R122H mice had disease progression to CP, with similar histologic features as those observed in human HP. By comparing PRSS1R122H mice with PRSS1WT mice, as well as enzymatically inactivated Dead-PRSS1R122H mice, we unraveled that increased trypsin activity is the mechanism for R122H mutation to sensitize mice to the development of pancreatitis. We further discovered that trypsin inhibition, in combination with anticoagulation therapy, synergistically prevented progression to CP in PRSS1R122H mice. These animal models help us better understand the complex nature of this disease and provide powerful tools for developing and testing novel therapeutics for human pancreatitis.
 ...
PMID:Trypsin activity governs increased susceptibility to pancreatitis in mice expressing human PRSS1R122H. 3155 Feb 38

Two adolescent females present with recurrent episodes of menstrual cycle associated acute pancreatitis and are diagnosed with hereditary pancreatitis, a cause of chronic pancreatitis. Hereditary pancreatitis should remain in the differential diagnosis for teenage females with catamenial acute pancreatitis and family history of pancreatic disease.
 ...
PMID:Menstruation-Associated Acute Pancreatitis in Patients with Hereditary Pancreatitis. 3323 69

Hereditary pancreatitis is a rare form of recurrent acute pancreatitis that typically has an onset in early adulthood. We report a rare case of hereditary pancreatitis in an individual with a serine protease inhibitor Kazal type 1 (SPINK1) mutation. Histologically the pancreas showed features of chronic pancreatitis with variable fibrosis, acinar destruction, and prominent inspissated secretions within the pancreatic ducts. Additionally, focal areas of low-grade pancreatic intraepithelial neoplasia (PanIN) were present. Although the histopathology of common gene mutations resulting in hereditary pancreatitis have been well described, the histopathology of pancreatitis secondary to SPINK1 mutation has been described in only one previous study.
 ...
PMID:Histopathology of SPINK-1 Hereditary Pancreatitis. 3328 18


<< Previous 1 2 3 4 5 6 7