Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects

• Published in: Gut Vol. 68; no. 4; pp. 767 - 768
• Main Authors: Enea, Ausilia, Pizzol, Antonio, Pinon, Michele, Cisarò, Fabio, Tandoi, Francesco, Arduino, Carlo, Calvo, Pier Luigi
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.04.2019
• Subjects: Child; Conductance; Cystic fibrosis; Endoplasmic reticulum; Genetic analysis; Humans; Mutation; Pancreatitis; Pancreatitis, Chronic; Pediatrics; Pedigree; Proteinase inhibitors; Serine; Serine proteinase; Trypsin - genetics; Trypsinogen; Trypsinogen - genetics; Trypsinogen gene; Italy; paediatric gastroenterology; pancreatitis
• ISSN: 0017-5749; 1468-3288; 1468-3288
• DOI: 10.1136/gutjnl-2018-316443

Correspondence to Dr Antonio Pizzol, Department of Pediatrics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino 10126, Italy; pizzol.antonio@gmail.com We read with interest the letter by Németh et al,1 describing a hereditary pancreatitis (HP) family of Hungarian origin carrying the heterozygous p.Leu104Pro variant of human cationic trypsinogen (PRSS1) gene. [...]to date, p.Leu104Pro PRSS1 variant has been reported in three families: three heterozygous carriers of a German pedigree without clinically proven chronic pancreatitis, a subject of Chinese origin with late onset idiopathic chronic pancreatitis3 4 and three related Hungarian subjects who presented with HP in adult life, as reported in the letter by Németh et al.1 Interestingly, all previously reported cases refer to an adult-onset of the disease, whereas children were unaffected, despite carrying the pathogenic variant. Genetic analysis in the patients was negative for mutations in cystic fibrosis transmembrane conductance regulator and serine protease inhibitor Kazal type 1 genes and both carried the c.311T>C (p.Leu104Pro) PRSS1 variant.