Hereditary pancreatitis

ArticleinPediatric Surgery International 26(12):1193-9 · December 2010with3 Reads
Impact Factor: 1.00 · DOI: 10.1007/s00383-010-2684-4 · Source: PubMed

Hereditary chronic pancreatitis (HCP) is a rare disease in which chronic pancreatitis develops in childhood. HCP has autosomal dominant inheritance with approximately 80% penetrance. Diagnostic criteria are not universally agreed upon but the EUROPAC trial defined it as two first-degree relatives or at least 3 second-degree relatives in two or more generations, with chronic pancreatitis for which there is no other etiology. The gene for HCP was originally identified on chromosome 7 and subsequently many other genes have been reported to be associated with HCP. To date, no single genetic alteration has been found that is necessary for the development of HCP. In a recent study, 81% of patients with HCP were found to have a mutation of the PRSS1 gene. Patients with HCP are at risk for developing exocrine and endocrine insufficiency and there is a 50-fold increased risk of pancreatic cancer in HCP patients as compared with the general population.

    • "Other causes include but not limited to surgical procedures like duodenal surgery, endoscopic retrograde cholangiopancreatography, metabolic, familial, bacteremia, viraemia, ischemic shock, intestinal worms, insect or animal bites with subsequent glomerulonephritis and extension of inflammation to adjacent tissue. Even after thorough investigations 10 to 35% of childhood pancreatitis has been reported to be idiopathic141516, although some of the seemingly idiopathic causes have been attributed to genetic mutations [14,1718192021 and still remain of diagnostic challenge in the developing world [15]. Although trauma accounts up to 10 to 40% of childhood acute pancreatitis [22], the retroperitoneal location of the pancreas poses diagnostic challenges particularly in resource limited settings where CT scans are not readily available, a fact that contributes to high morbidity in this age group [23]. "
    [Show abstract] [Hide abstract] ABSTRACT: Acute necrotic-hemorrhagic pancreatitis is one of the most rare and less remembered causes of acute abdomen in children despite its fatal outcome. We report the case of a 2 year-old girl admitted through accident and emergence department with reported anorexia for 2 weeks, associated with over crying after meals, abdominal distention, vomiting and chills for 2 days. The patient had a temperature of 37.9 0 C, rebound tenderness of the abdomen and absent bowel sounds. Abdominal ultrasonography revealed fluid collection at the pancreatic bed. No focal pancreatic masses or gallstones were reported. Gram staining of peri-pancreatic collection revealed Gram negative rods, whereas its culture revealed Escherichia coli sensitive to gentamycin and ceftriaxone. Other laboratory findings were; hypocalcaemia of 2.0mmol/L, total serum amylase of 350 U/L, Hb of 8.0g/dl and raised ESR of 40mm/hr. Liver and renal function tests were within normal ranges. Enhanced CT scan and serum lipase were unavailable in our settings. We subjected the patient to an emergence exploratory laparotomy. Intraoperative findings were: hemorrhagic ascites, retroperitoneal haematoma, edematous pancreatic body with areas of grey-white necrosis; and steato-necrosis in the omentum and mesentery leading to a diagnosis of acute necrotic-hemorrhagic pancreatitis. We compare the characteristics of our patient with the available data on literature review. Informed consent was sought from the patient's mother in writing, for the surgery and case documentation. INTRODUCTION Acute necrotic-hemorrhagic pancreatitis is a severe form of acute inflammation of the pancreas clinically presenting with acute abdomen that is associated with macroscopic hemorrhage and fat necrosis in and around the pancreas [1]. There is paucity of data on prevalence of this condition in Uganda, however its epidemiology differ by country [2]. According to National Digestive Diseases Information Clearinghouse; overall, annual incidence of 210,000 people is reported in the United States; with Caucasians being more affected than African Americans [3]. This severe form of acute pancreatitis occurs in 20% of cases [4] and is associated with increased risk of multiple organ failure with subsequent high mortality rates of up to 70% [5], especially in presence of infected necrosis [6]. The condition is assumed to affect males than females, predominantly affecting adults of 40 to 70 years [1, 2]. We present a case of a 2 year old African girl who was successfully managed surgically at Kampala International University Teaching Hospital, Ishaka, Uganda. CASE REPORT This 2 year old female was admitted through accident and emergence department for reported constant abdominal discomfort and anorexia that had lasted 2 weeks prior to admission. The pain was reportedly associated with over crying after meals, abdominal distention, vomiting and chills for 2 days. There was no preceding history of accidental alcohol intoxication. The patient had no known chronic illnesses and reportedly had not been on any medication 4 months prior to admission. There was no history of trauma or diagnostic procedures before onset of symptoms. The patient's immunization schedule was up-to-date. On general examination, the patient had a temperature of 37.9 0 C. There was moderate pallor of conjunctiva but no jaundice. There was dehydration, tachycardia of 120 beats per minute. Other vital signs were normal.
    Full-text · Article · Jan 2015
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    • "Most cases are recognized to be caused by infections, inflammatory disorders, trauma, toxicities, drugs, malnutrition, obstructive lithiasis , cystic fibrosis, or systemic lupus erythematosus [11]. Other causes include hereditary pancreatitis, which is induced by the presence of mutations in the SPINK1 or PRSS1 genes [12]. Pancreatitis has also been reported in several metabolic disorders, including certain fatty acid oxidation disorders [13]. "
    [Show abstract] [Hide abstract] ABSTRACT: No association between mitochondrial disease and pancreatitis has yet been established, although diabetes mellitus and diseases caused by exocrine insufficiency, such as Pearson syndrome, are the commonest pancreatic complications of mitochondrial diseases. Here, we report 2 cases of mitochondrial disease complicated by pancreatitis as an unusual pancreatic exocrine manifestation. One patient was a 10-year-old girl with mild retardation of psychomotor development who had experienced recurrent pancreatitis since the age of 4years. Chronic progressive external ophthalmoplegia (CPEO) due to m.8344A>G mutation was diagnosed when the patient was 10years old. The other patient was a 28-year-old woman who was diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to m.3243A>G mutation at 10years of age. She had experienced regular recurrent vomiting since the age of 16 and suffered an episode of critical pancreatitis at 23years. In both cases, no possible etiological, morphological, or genetic factors for pancreatitis were identified, including anomalous pancreaticobiliary duct. A combination therapy of the standard treatment for chronic pancreatitis and supportive therapy for mitochondrial energy production may be beneficial to prevent the recurrence of acute pancreatitis complicating mitochondrial diseases. The pathophysiological mechanism of pancreatitis in mitochondrial disease has not been adequately established; however, our observations suggest that pancreatitis should be included in the list of pancreatic complications of mitochondrial disease.
    Full-text · Article · Nov 2012 · Brain & development
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  • [Show abstract] [Hide abstract] ABSTRACT: Dictyostelium cells are genetically haploid and therefore easily analyzed for mutant phenotypes. In the past, many tools and molecular markers have been developed for a quantitative and qualitative analysis of the endocytic pathway in these amoebae. This review outlines parallels and discrepancies between mutants in Dictyostelium, the corresponding mammalian cells and the symptoms of human patients affected by lysosomal and trafficking defects. Situations where knowledge from Dictyostelium may potentially help understand human disease and vice versa are also addressed.
    No preview · Article · Nov 2010 · Seminars in Cell and Developmental Biology
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