Hereditary pancreatitis.

Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
Pediatric Surgery International (Impact Factor: 1.06). 12/2010; 26(12):1193-9. DOI: 10.1007/s00383-010-2684-4
Source: PubMed

ABSTRACT 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.

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    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.
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    ABSTRACT: To present our experience with the modified Puestow procedure in the management of children with chronic pancreatitis. Retrospective chart review of patients treated between 2003 and 2012. Six patients underwent a modified Puestow procedure (lateral pancreaticojejunostomy) for the management of chronic pancreatitis, three females and three males. Four patients had hereditary pancreatitis (three with confirmed N34S mutation in the SPINK1 gene), one patient had chronic pancreatitis of unknown etiology, and one patient with annular pancreas developed obstructive chronic pancreatitis. The pancreatic duct was dilated in all cases, with a maximum diameter of 5 to 10mm. Median time between onset of pain and surgery was 4years (range: 1-9). Median age at surgery was 7.5years (range: 5-15). Median hospital stay was 12days (range: 9-28). Median follow up was 4.5years (range: 5months to 9years). All patients had temporary postoperative improvement of their abdominal pain. In two patients the pain recurred at 6months and 2years postoperatively and eventually required total pancreatectomy to treat intractable pain, 3 and 8years after surgery. Two patients were pain free for two years and subsequently developed occasional episodes of pain. The two most recent patients are pain free at 1year (obstructive chronic pancreatitis) and 5months (hereditary pancreatitis) follow-up. Two patients developed type I diabetes mellitus 10 and 12months postoperatively (one with hereditary and one with idiopathic chronic pancreatitis). We conclude that the modified Puestow procedure in children is feasible and safe. It seems to provide definitive pain control and prevent further damage to the pancreas in patients with obstructive chronic pancreatitis. However, in patients with hereditary pancreatitis, pain control outcomes are variable and the operation may not abrogate the progression of disease to pancreatic insufficiency.
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    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.