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)

We report on the case of a 35 year-old woman who was initially admitted for acute pancreatitis in october 1995. The patient was suffering from asthma (since childhood) and diffuse abdominal pain (since adolescence). The diagnosis of cystic fibrosis was made fortuitously during a sterility evaluation. After extensive etiological screening the acute pancreatitis was considered to be a manifestation of the cystic fibrosis. Despite therapy with pancreatic enzymes, the patient continued to suffer from chronic abdominal pain. High intake of analgesics was required. Until December 1995, the patient was repeatedly admitted for episodes of acute pancreatitis. In January 1996, we initiated a preventive treatment with subcutaneous octreotide between 100 and 200 microgram, three time a day. Thereafter, there were fewer episodes of pancreatitis and the consumption of analgesics decreased. Side effects of octreotide were intermittent diarrhea and development of cholelithiasis that was complicated by biliary migration in November 1998. In June 1999, the prolonged-release form of the molecule was given without modification of the efficacy.
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PMID:[Repetitive acute pancreatitis in a late-diagnosed cystic fibrosis: prevention of relapses by octreotide in the long term]. 1152 Nov 9

Acute recurrent pancreatitis (ARP) results most commonly from alcohol abuse or gallstone disease. Initial evaluation fails to detect the cause of ARP in 10-30% of patients, and as a result the diagnosis of "idiopathic" ARP is given. In these patients, a more extensive evaluation including specialized labs, ERCP, endoscopic ultrasound, or magnetic resonance cholangiopancreatography typically leads to a diagnosis of microlithiasis, sphincter of Oddi dysfunction, or pancreas divisum. Less commonly, hereditary pancreatitis, cystic fibrosis, a choledochocele, annular pancreas, an anomalous pancreatobiliary junction, pancreatobiliary tumors, or chronic pancreatitis are diagnosed. Determining the etiology is important, as it helps to direct therapy, limits further unnecessary evaluation, and may improve a patient's long term prognosis.
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PMID:Idiopathic acute recurrent pancreatitis. 1156 74

Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between 'severe' mutations in the gene that encodes the cystic fibrosis transmembrane regulator (CFTR) and pancreatic insufficiency. The relationship between 'mild' mutations, associated with residual CFTR function, and expression of disease is less precise. Atypical 'mild' mutations in the CFTR gene have been linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. Less commonly, sinusitis, allergic bronchopulmonary aspergillosis, and possibly even asthma may also be associated with mutations in the CFTR gene, but those syndromes predominantly reflect non-CFTR gene modifiers and environmental influences.
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PMID:'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. 1173 31

For a long time the pathogenesis of pancreatitis has remained enigmatic. Recent developments in cellular and molecular biology, however, have provided a tremendous research impetus and some of its mysteries are finally being disclosed. This review discusses the implications of the discovery of the disease gene in hereditary pancreatitis and outlines recent advances in our understanding of the mechanism and site of trypsinogen activation and the role of immunocytes and cytokines in acute pancreatitis. With respect to chronic pancreatitis, this review focuses on its association with mutations in the cystic fibrosis conductance regulator gene and the mechanisms of pancreatic fibrosis. These advances in our knowledge of the pathogenesis of the disease, together with emerging biotechnological techniques, will boost the development of future therapies aimed at strategically targeting key pathophysiological processes involved in acute and chronic pancreatitis.
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PMID:Current insights into the pathogenesis of acute and chronic pancreatitis. 1176 55

A cystic fibrosis (CF) heterozygote incidence higher than in the general population has been repeatedly reported in conditions which include clinical features found in CF, like pancreatitis, disseminated bronchiectasis, and allergic bronchopulmonary aspergillosis. Some cases may be explained by an unidentified compound heterozygosity; others could be manifesting heterozygotes. This study was aimed at detecting the incidence of CF-related clinical features in a population of carriers. A group of 261 obligate heterozygotes (mean age, 44 years) and a control group, composed of 201 individuals negative for a standard mutation panel (mean age, 36 years), were surveyed for possibly CF-related conditions (asthma, bronchiectasis, pneumothorax, allergic bronchopulmonary aspergillosis, sinusitis, nasal polyps, gallstones, liver cirrhosis, diabetes, pancreatitis, bone fractures, plus hypertension). A questionnaire was administered, and the accuracy of the statements was evaluated by phone interviews. There was no difference between heterozygotes and controls, with the exception of hypertension (carriers 28/261, controls 7/201, p = 0.004), and, in males, nasal polyps (carriers 7/126, controls 0/102, p value = 0.0178), and, again, hypertension (carriers 17/126, controls 5/102, p value = 0.0407). To avoid age bias, 126 heterozygotes matched to controls of the same gender and age were separately processed: these two groups showed no significant differences. CF-related clinical manifestations in obligate CFTR mutation heterozygotes are not more represented than in individuals with a low risk of being carriers.
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PMID:A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes. 1178 92

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations of the CFTR gene. The number of adult CF patients increased dramatically, since life expectancy is now around thirty years. CF is usually a pediatric disease. In adult patients the disease associate a diffuse bronchectasia with chronic colonisation of sputum with Pseudomonas aeruginosa, and pancreatic insufficiency. Mortality is usually related to respiratory insufficiency. One third of adult patients develop diabetes mellitus. A diagnosis of CF can be made in adult patients particularly when it exists male infertility with congenital absence of vas deferens, chronic sinusitis or diffuse bronchectasia or chronic pancreatitis, acute and recurrent pancreatitis, allergic bronchopulmonary aspergillosis. The diagnosis is established with positive sweat chloride concentration, or double CFTR mutations and/or other suggestive organ involvement.
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PMID:[Cystic fibrosis in adulthood]. 1179 81

Inflammation of the pancreas (pancreatitis) has many presentations in children and adolescents, ranging from intrauterine congenital onset with sequelae of early exocrine pancreatic insufficiency as in the diseases of cystic fibrosis and Shwachman-Diamond syndrome to postnatal onset as a consequence of embryologic anomalies affecting pancreatic drainage postulated to exist in pancreas divisum, or of traumatic, obstructive, hemodynamic, metabolic or biochemical insults. The etiology is often elusive with up to 30% of cases being idiopathic. Modern imaging modalities of endoscopic ultrasonography and magnetic resonance cholangiopancreatography extend the diagnostic power of conventional abdominal ultrasonography and computed tomography. In addition, there is increasing pediatric experience with endoscopic retrograde cholangiopancreatography. Medical management remains supportive, with optimal timing and indications for surgery in cases of pancreatic necrosis and pseudocyst assessed. Three temporal patterns of pancreatitis appear in children: acute pancreatitis, recurrent acute pancreatitis, and chronic pancreatitis. Acute pancreatitis is of abrupt onset, often attributable to a specific cause, and of variable severity and duration but self-limited with eventual resolution. Acute attacks of pancreatitis recurring after periods of remission characterize acute recurrent pancreatitis and indicate an intrinsic problem or susceptibility. Chronic pancreatitis is present in most of these cases in which pancreatic inflammation and destruction never completely remits.
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PMID:Pancreatitis: etiology, diagnosis, and management. 1180 91

Chronic pancreatitis is a rare differential diagnosis of obstructive jaundice and/or recurrent abdominal pain in childhood and adolescence. The hereditary calcifying and the noncalcifying obstructive form are the two major forms of juvenile chronic pancreatitis. Other causes include cystic fibrosis, hyperparathyroidism, hyperlipoproteinemia and ascariasis. Even less common is the so called idiopathic or fibrosing pancreatitis. Since the first description by Comfort in 1946 only 41 further cases of juvenile idiopathic fibrosing pancreatitis have been published. An association with gene mutations (PRSS1, SPINK1, CTFR-5T genotype) is suspected. We report the cases of a 17-year-old male patient who presented with painless obstructive jaundice and a 16-year-old female patient who presented with abdominal pain and obstructive jaundice. Both patients underwent surgical treatment with duodenum-preserving pancreatic head resection. The relevant literature with special regard to modern pancreatic surgery is reviewed to give an overview about this rare but surgically treatable pediatric condition, which merits the attention of pediatricians and gastroenterologists in cases of children and adolescents suffering from unexplained abdominal pain.
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PMID:Juvenile idiopathic fibrosing pancreatitis. 1206 96

Regulated secretion in exocrine and neuroendocrine cells occurs through exocytosis of secretory granules and the subsequent release of stored small molecules and proteins. The introduction of biophysical techniques with high temporal and spatial resolution, and the identification of Ca(2+)-dependent and -independent "docking" and "fusion" proteins, has greatly enhanced our understanding of exocytosis. The cloning of families of ion channel proteins, including intracellular ion channels, has also revived interest in the role of secretory granule ion channels in exocytotic secretion. Thus secretory granules of pancreatic acinar cell express a ClC-2 Cl(-) channel, a HCO-permeable member of the CLCA Ca(2+)-dependent anion channel family, and a KCNQ1 K(+) channel. Evidence suggests that these channels may facilitate the release of digestive enzymes and/or prevent exocytosed granules from collapsing during "kiss and run" recycling. In pancreatic beta-cells, a granular ClC-3 Cl(-) channel provides a shunt pathway for a vacuolar-type H(+)-ATPase. Acidification "primes" the granules for Ca(2+)-dependent exocytosis and release of insulin. In summary, secretory granules are equipped with specific sets of ion channels, which modulate regulated exocytosis and the release of macromolecules. These channels could represent excellent targets for therapeutic interventions to control exocytotic secretion in relevant diseases, such as pancreatitis, cystic fibrosis, or diabetes mellitus.
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PMID:Ion channels in secretory granules of the pancreas and their role in exocytosis and release of secretory proteins. 1217 23

Idiopathic chronic pancreatitis (ICP) is the leading cause of nonalcoholic chronic pancreatitis. This study examined a series of patients with ICP to determine the prevalence and role of mutations of the cystic fibrosis gene (CFTR) and of a trypsin inhibitor gene (PSTI). Genetic testing was done in 39 patients with ICP. In this series, 17 patients had CFTR mutations and 9 had PSTI mutations. Pancreatitis risk was increased 14-fold by having the N34S PST1 mutation, 40-fold by having two abnormal copies of CFTR, and 600-fold by having both. In patients with two CFTR mutations, extrapancreatic clinical findings and nasal bioelectric responses suggested reduced residual CFTR protein function. Thus, pancreatitis risk showed complex inheritance and was highest in individuals who have abnormalities in both the pancreatic ducts (CFTR) and acini (PSTI). These findings indicate that PSTI is a modifier gene for CFTR-related ICP and have implications for the classification, diagnosis, and pathogenesis of pancreatitis.
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PMID:Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. 1222 54


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