South Australian experience with paediatric total pancreatectomy and islet autotransplantation for
            <i>PRSS1</i>
            ‐associated hereditary pancreatitis

Eldredge, Jessica A; Couper, Michael R.; Moore, David; Khurana, Sanjeev; Chen, John Wc; Couper, Jennifer; Drogemuller, Chris; Radford, Toni; Kay, Thomas W. H.; Loudovaris, Thomas; Wilks, Michael; Coates, P. Toby; Couper, Richard

doi:10.5694/mja2.51247

Cited by 1 publication

(8 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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 The need to raise clinical awareness that hereditary pancreatitis should be considered when diagnosing pancreatitis in younger Indigenous Australians is an important pragmatic implication of our study.…”

Section: Discussionmentioning

confidence: 99%

“…Our experience with this procedure is that, if undertaken early, it can greatly improve the quality of life of people with hereditary pancreatitis in terms of pain relief and prevention of type 3c diabetes. 5,6,16 Twenty-nine people in our study (66%) fulfilled the Minnesota criteria for the appropriateness of TP-IAT for patients with chronic pancreatitis, taking history of recurrent acute pancreatitis, medical imaging and biochemistry findings, lifestyle, and need for medications into account. 5,6,16 A large proportion of people in our study reported that the pain and other features of hereditary pancreatitis impaired their daily activities and mental health.…”

Section: Discussionmentioning

confidence: 99%

“…5,6,16 Twenty-nine people in our study (66%) fulfilled the Minnesota criteria for the appropriateness of TP-IAT for patients with chronic pancreatitis, taking history of recurrent acute pancreatitis, medical imaging and biochemistry findings, lifestyle, and need for medications into account. 5,6,16 A large proportion of people in our study reported that the pain and other features of hereditary pancreatitis impaired their daily activities and mental health. The fact that 38 people (86%) regularly used opioid medications is one indication of the severity of the pain caused by hereditary pancreatitis.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical and genetic features of hereditary pancreatitis in South Australia Denghao Wu 1 , Tristan J Bampton 2,3 , Hamish S Scott 4 , Alex Brown 5,6 , Karin Kassahn 1,4 , Christopher Drogemuller 1,3 , Sunita MC De Sousa 1,3 , David Moore 7 , Thuong Ha 4 , John WC Chen 8 , Sanjeev Khurana 7 , David J Torpy 3 , Toni Radford 3 , Richard Couper 7 , Lyle Palmer 2 , P Toby Coates AO 1,3 T he term hereditary pancreatitis encompasses a group of rare fibro-inflammatory conditions characterised by recurring bouts of severe abdominal pain that usually require opiate analgesia for relief; initial symptoms are typically reported before the age of ten years. [1][2][3] Hereditary pancreatitis progresses to exocrine failure and diabetes, and increases the risk of adenocarcinoma of the pancreas.…”

mentioning

confidence: 99%

“…[1][2][3] Hereditary pancreatitis progresses to exocrine failure and diabetes, and increases the risk of adenocarcinoma of the pancreas. 1,[4][5][6] Hereditary pancreatitis was recognised as a clinical syndrome in 1952, 7 and mutations in the cationic trypsinogen (= serine protease 1) gene (PRSS1) on chromosome 7q were identified as major aetiological factors in 1996. [7][8][9][10] More than twenty pathogenic PRSS1 mutations have since been described, accounting for 80% of all cases of hereditary pancreatitis in people of European ancestry.…”

mentioning

confidence: 99%

See 4 more Smart Citations

The clinical and genetic features of hereditary pancreatitis in South Australia

Bampton

Scott

et al. 2022

Medical Journal of Australia

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%