Hereditary pancreatitis in a family of Aboriginal descent

McGaughran, Julie; Kimble, Roy M.; Upton, J. D.; George, Peter M.

doi:10.1111/j.1440-1754.2004.00437.x

Cited by 9 publications

(5 citation statements)

References 15 publications

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“…They have been frequently reported from Europe, North America, and Asia [Nishimori et al, 1999] and R122H was also recently found in a family of Aboriginal descent in Australia [McGaughran et al, 2004]. Neither mutation was detected in two hereditary pancreatitis families from Brazil [Bernardino et al, 2003] and no hereditary pancreatitis cases have been reported from Africa.…”

Section: N29i and Enhanced Trypsinogen Autoactivationmentioning

confidence: 91%

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis

et al. 2006

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Section: N29i and Enhanced Trypsinogen Autoactivationmentioning

confidence: 91%

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis

et al. 2006

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“…They have been frequently reported from Europe, North America and Asia [56] and R122H was also recently found in a family of Aboriginal descent in Australia [57]. Neither mutation was detected in two hereditary pancreatitis families from Brazil [58] and no hereditary pancreatitis cases have been reported from Africa.…”

Section: Other Genes Associated To Chronic Pancreatitismentioning

confidence: 95%

Hereditary chronic pancreatitis

Rosendahl

Bödeker

Mössner

et al. 2007

Orphanet J Rare Dis

130

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Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological features and laboratory findings of HCP do not differ from those of patients with alcoholic chronic pancreatitis. As well, diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine pancreatic function, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and rarely pancreatic cancer. Fortunately, most patients have a mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary) as well. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction. The disease course and prognosis of patients with HCP is unpredictable. Pancreatic cancer risk is elevated. Therefore, HCP patients should strongly avoid environmental risk factors for pancreatic cancer.

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“…Further, 12% of adults admitted to hospital because of chronic pancreatitis were Indigenous people, some of whom may have had undiagnosed hereditary pancreatitis. A 2004 case report 25 described an Indigenous family with several members who had hereditary pancreatitis; in our reports on total pancreatectomy and islet auto‐transplantation (TP‐IAT), most patients with hereditary pancreatitis were also Indigenous people 5,16 . The prevalence of exocrine pancreas disorders is generally higher in indigenous than European origin populations 24 .…”

Section: Discussionmentioning

confidence: 83%

The clinical and genetic features of hereditary pancreatitis in South Australia

Bampton

Scott

et al. 2022

Medical Journal of Australia

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Objective To characterise the clinical phenotypes and genetic variants of hereditary pancreatitis in people diagnosed in South Australia. Design, setting, participants Cross‐sectional study of people who received molecular diagnoses of hereditary pancreatitis from one of four major diagnostic services in South Australia, 1 January 2006 – 30 June 2021. Main outcome measures Genotypic and clinical features of people with hereditary pancreatitis, including age at onset, attack frequency, pain indices, use of opioid medications, and physical and mental health impact of hereditary pancreatitis. Results We identified 44 people from ten families who received molecular diagnoses of hereditary pancreatitis during 2006–21 (including 25 Indigenous people [57%] and 27 women [61%]): 36 with PRSS1, five with SPINK1, and three with PRSS1 and SPINK1 mutations (determined by whole exome sequencing). Symptom onset before the age of ten years was reported by 37 people (84%). Pancreatitis‐related pain during the preceding four weeks was described as moderate or high by 35 people (79%); 38 people regularly used opioids (86%). Fifteen patients had diabetes mellitus (34%), and eight had undergone pancreatic surgery (18%). The estimated prevalence of hereditary pancreatitis was 1.1 (95% CI, 0.72–1.4) cases per 100 000 population for non‐Indigenous and 71 (95% CI, 66–77) cases per 100 000 population for Indigenous South Australians. Among people with adult‐onset chronic pancreatitis admitted to South Australian public hospitals during 2001–2019, the proportions of Indigenous people (12%) and women (38%) were smaller than we report for hereditary pancreatitis. Conclusion The estimated prevalence of hereditary pancreatitis in South Australia is higher than in Europe. PRSS1 gene mutations are important causes, particularly among Indigenous young people.

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Hereditary pancreatitis in a family of Aboriginal descent

Cited by 9 publications

References 15 publications

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis

Hereditary chronic pancreatitis

The clinical and genetic features of hereditary pancreatitis in South Australia

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