ArticleEBioMedicine2019
Natural history of SPINK1 germline mutation related-pancreatitis.
Article in EBioMedicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 69 citations in OpenAlex.
- Multilevel genome-wide analysis reveals shared genetic architecture between acute pancreatitis and body fat distribution.World journal of emergency medicine · 2026Article
- Genotype-Phenotype Correlations in Pediatric Hereditary Pancreatitis: Evidence from a Romanian Retrospective Cohort.Journal of clinical medicine · 2026Article
- TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.Journal of gastroenterology · 2026Article
- Idiopathic chronic pancreatitis: clinical highlights.Therapeutic advances in gastroenterology · 2026Review
- Chronic pancreatitis associated with genetic mutation and drug-resistant epilepsy.Przeglad gastroenterologiczny · 2026Article
- IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.Allergy · 2025Review
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- Compound Heterozygous Complete Loss-of-FunctionGenes · 2025Article
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- Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.Human genomics · 2025Review
- Chronic and Idiopathic Pancreatitis-A Personalized Treatment Approach.United European gastroenterology journal · 2025Review
- Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.Frontiers in genetics · 2025Article
- Trypsin in pancreatitis: The culprit, a mediator, or epiphenomenon?World journal of gastroenterology · 2024Review
- Article
- Puestow surgery in a SPINK mutation chronic pancreatitis: a rare case report.Journal of surgical case reports · 2024Article
- Article
- High frequency of germline variants in CFTR identified in PDAC patients enrolled in an expanded panel multi-gene panel testing program.HPB : the official journal of the International Hepato Pancreato Biliary Association · 2024Article
- A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.Pediatric investigation · 2023Review
- Article
- Review
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Authors and funding
13 authors at 10 institutions in 3 countries.
Funding
Abstract
backgroundThe aim was to describe genetic, clinical and morphological features in a large, multicentre European cohort of patients with SPINK1 related pancreatitis, in comparison with patients with idiopathic pancreatitis (IP).
methodsAll SPINK1 mutation carriers with pancreatic symptoms from two French and one English centers were included. Patients with IP were included in a control group. Genetic, clinical, radiological and biochemical data were collected.
findings209 and 302 patients were included in the SPINK1 and control groups (median follow-up: 8.3 years (3.7-17.4) vs 5.3 (2.5-8.8)). The median age at onset of symptoms was 20.1 years (17.5-22.8) in the SPINK1 group versus 41.2 (35.2-45.2). The age of exocrine pancreatic insufficiency (EPI) onset in the SPINK1 group was 49.5 (44.5-54.6) years vs. 65.2 (62.1-68.3), p < 0.001. SPINK1 patients with EPI were 5.3%, 14.7%, 28.3% and 52.4% at 20, 30, 40 and 50 years. Diabetes occurred 37.7 (33.3-42.1) years following the onset of symptoms in the SPINK1 group vs. 30.6 (17.3-43.8) (p = 0.002). SPINK1 patients with diabetes were 7.8%, 13.4%, 26.3% and 43.4% at 30, 40, 50 and 60 years. Seven patients (3.3%) developed pancreatic cancer in the SPINK1 group (versus 3 (0.99%), p = 0.1), at a median age of 60 vs 66 years. The cancer risk was 0.8% before 50 years, 11.9%, 27.7%, 51.8% at 60, 70 and 80 years and was 12 times higher than in controls (Cox HR 12.0 (3.0-47.8), p < 0.001).
interpretationSPINK1 related pancreatitis is associated with earlier onset and pancreatic insufficiencies. p.N34S SPINK1 may well be associated with cancer.
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