High Incidence of <i>PRSS1</i> and <i>SPINK1</i> Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis

Lee, Yeoun Joo; Kim, Kyung Mo; Choi, Jung-Won; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

doi:10.1097/mpg.0b013e31820e2126

Cited by 58 publications

(57 citation statements)

References 20 publications

(28 reference statements)

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“…However, on looking at the data from a different angle it was found that genetic mutations were present in 78% of idiopathic chronic/acute recurrent pancreatitis patients compared to just 12% in patients with a known aetiology of pancreatitis. Similar to the present study, the study from Korea [19] in 32 children with acute recurrent and chronic pancreatitis showed SPINK1mutations in 34.4% of cases. Results of these studies and our observation have established that SPINK1 mutation is frequently associated with chronic pancreatitis, especially in idiopathic cases.…”

Section: Discussionsupporting

confidence: 91%

“…Studies in adults have shown that 25-44% of idiopathic chronic pancreatitis cases are associated with genetic mutations (mainly SPINK1) [13][14][15][16]. So far, there are three studies in chronic/acute recurrent pancreatitis in children [17][18][19] and only one in acute pancreatitis of various aetiologies [20]. Unlike in adults, there is a scarcity of studies on idiopathic pancreatitis in children and none so far on the impact of genetic mutations of natural history of acute and acute recurrent pancreatitis.…”

Section: Introductionmentioning

confidence: 92%

See 1 more Smart Citation

Genetic predisposition and its impact on natural history of idiopathic acute and acute recurrent pancreatitis in children

Poddar

Yachha

Mathias

et al. 2015

Digestive and Liver Disease

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 92%

Genetic predisposition and its impact on natural history of idiopathic acute and acute recurrent pancreatitis in children

Poddar

Yachha

Mathias

et al. 2015

Digestive and Liver Disease

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“…Sánchez-Ramirez et al 18 observaram 36 crianças com diagnóstico de PA e 19 com pancreatite recorrente, concluindo que em cerca de 35% dos casos a causa era idiopática, mesmo após investigação completa, conforme já apontado em estudos anteriores, que descrevem valores entre 10-20% de PA idiopática em crianças 19,20 . Ainda, evidências recentes apontam que parte significativa dos casos de pancreatite idiopática em crianças está relacionada a mutações genéticas diversas 18,21 , responsáveis pela ocorrência da doença diretamente ou predisponentes desta, muitas das quais localizadas no braço longo do cromossomo 7 (7q35), onde muitos genes envolvidos com a transcrição e regulação do tripsinogênio estão localizados 22 .…”

Section: Pancreatite Aguda Recorrente Hereditária: Aspectos Genéticosunclassified

Acute pancreatitis in pediatrics: a systematic review of the literature

2012

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Objective: To describe the main epidemiological, clinical, diagnostic and treatment aspects of children with acute pancreatitis.Sources: Systematic review of MEDLINE and SciELO databases in the last 5 years on acute pancreatitis in children, as well as consultation of relevant references on the texts obtained. Summary of the findings:Cases of acute pancreatitis in children have received growing attention in recent years, and an increase in the number of cases has been reported in several studies. The main etiologies in children involve biliary disease, drug-induced pancreatitis, recurrent hereditary pancreatitis and trauma, and up to 30% of cases have no defined etiology. The diagnosis is based on the combination of clinical and laboratory aspects with the increase of acinar enzymes and radiologic tests. Initial support treatment, with proper volume replacement and correction of the metabolic disturbances, besides specific nutritional therapy, are the fundamental points in the handling of acute conditions. Long term complications are unusual, and mortality rates are inferior to the rates for the adult population. Conclusions:The early diagnosis and the appropriate handling can contribute to a better outcome for the child with pancreatitis and to prevent the immediate and late complications related to the disease. More studies are required to better explain aspects related to the clinical and radiological diagnosis of pancreatitis in children, as well as aspects related to the nutritional therapy for this age group. J Pediatr (Rio J). 2012;88(2):101-14: Pancreatitis, pediatrics, nutritional support, morbidity, enteral nutrition. ResumoObjetivo: Descrever os principais aspectos epidemiológicos, clínicos, diagnósticos e do tratamento de crianças com pancreatite aguda. Fontes dos dados:Realizada revisão sistemática das bases de dados MEDLINE e SciELO nos últimos 5 anos sobre pancreatite aguda em crianças, bem como consultadas referências relevantes dos textos obtidos. Síntese dos dados:Os casos de pancreatite aguda em crianças recebem crescente atenção nos últimos anos, sendo verificado um aumento na incidência da doença em diversos estudos. As principais etiologias em crianças envolvem doença biliar, pancreatite secundária a medicamentos, pancreatite hereditária recorrente e trauma, sendo até 30% dos casos sem etiologia definida. O diagnóstico baseia-se na combinação de aspectos clínicos, laboratoriais com elevação das enzimas acinares e testes radiológicos. Tratamento de suporte inicial, com reposição volêmica adequada e correção dos distúrbios metabólicos, além de terapêutica nutricional específica, são os pontos fundamentais no manejo dos quadros agudos. Complicações a longo prazo são incomuns, e as taxas de mortalidade, inferiores às da população adulta. Conclusões:O diagnóstico precoce e o manejo apropriado podem contribuir para a melhor evolução da criança com pancreatite e prevenir as complicações imediatas e tardias relacionadas à doença. Mais estudos são necessários para melhor elucidar aspectos re...

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“…They reported that five mutants, including the p.G208A (c.623G>C), showed reduced secretion, suggesting that these variants might increase the risk of pancreatitis related to mutation-induced misfolding and consequent ER stress. Interestingly, the p.G208A variant had been reported only in Asian subjects: a 12-year-old Asian male with CP, a Korean child with recurrent acute pancreatitis, and a 7-yearold Korean child with necrotizing acute pancreatitis (Keiles and Kammesheidt 2006;Lee et al 2011). We therefore conducted screening of the PRSS1 p.G208A (c.623G>C) variant and found an association with pancreatitis in Japan (Masamune et al 2014).…”

Section: Prss1 Mutationsmentioning

confidence: 99%

Genetics of Pancreatitis: The 2014 Update

Masamune

2014

Tohoku J. Exp. Med.

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Chronic pancreatitis is a progressive inflammatory disease in which pancreatic secretory parenchyma is destroyed and replaced by fibrous tissue, eventually leading to malnutrition and diabetes. Alcohol is the leading cause in Western countries, but genetic factors are also implicated. Since the identification of mutations in the cationic trypsinogen (PRSS1) gene as a cause of hereditary pancreatitis in 1996, we have seen great progress in our understanding of the genetics of pancreatitis. It has been established that mutations in the genes related to the activation and inactivation of trypsin(ogen) such as PRSS1, serine protease inhibitor Kazal type 1 (SPINK1) and chymotrypsin C (CTRC) genes are associated with pancreatitis. In 2013, carboxypeptidase A1 (CPA1) was identified as a novel pancreatitis susceptibility gene. Endoplasmic reticulum stress in pancreatic acinar cells resulting from the mis-folding of mutated pancreatic enzymes has been shown to act as a novel mechanism underlying the susceptibility to pancreatitis. In Japan, the nationwide survey revealed 171 patients (96 males and 75 females) with hereditary pancreatitis in 59 families based on the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer criteria. Because about 30% of families with hereditary pancreatitis do not carry mutations in any of the known pancreatitis susceptibility genes, other yet unidentified genes might be involved. Next generation sequencers can perform billions of sequencing reactions with a read length of 150-250 nucleotides. Comprehensive analysis using next generation sequencers will be a promising strategy to identify novel pancreatitis-associated genes and further clarify the pathogenesis of pancreatitis.

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High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis

Cited by 58 publications

References 20 publications

Genetic predisposition and its impact on natural history of idiopathic acute and acute recurrent pancreatitis in children

Genetic predisposition and its impact on natural history of idiopathic acute and acute recurrent pancreatitis in children

Acute pancreatitis in pediatrics: a systematic review of the literature

Genetics of Pancreatitis: The 2014 Update

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