Natural history of SPINK1 germline mutation related-pancreatitis

The 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). All SPINK1 mutation carriers with pancreatic symptoms from two French and one Engl...

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Veröffentlicht in:EBioMedicine 2019-10, Vol.48, p.581-591
Hauptverfasser: Muller, Nelly, Sarantitis, Ioannis, Rouanet, Marie, de Mestier, Louis, Halloran, Christopher, Greenhalf, William, Férec, Claude, Masson, Emmanuelle, Ruszniewski, Philippe, Lévy, Philippe, Neoptolemos, John, Buscail, Louis, Rebours, Vinciane
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Sprache:eng
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Zusammenfassung:The 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). All 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. 209 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 
ISSN:2352-3964
2352-3964
DOI:10.1016/j.ebiom.2019.09.032