Article Text

PDF
Letter
Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects
  1. Ausilia Enea1,
  2. Antonio Pizzol1,
  3. Michele Pinon2,
  4. Fabio Cisarò2,
  5. Francesco Tandoi3,
  6. Carlo Arduino4,
  7. Pier Luigi Calvo2
  1. 1Department of Pediatrics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  2. 2Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  3. 3Liver Transplantation Center, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  4. 4Department of Medical Genetics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  1. 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{at}gmail.com

Statistics from Altmetric.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. It added further data to previous publications by Schnúr et al2 and Balázs et al,3 who proposed that a subset of PRSS1 variants caused chronic pancreatitis by inducing misfolding and endoplasmic reticulum stress, rather than increased intrapancreatic trypsin activity.

However, a clinically defined relationship between the mutation and the phenotypic expression in the general population still remains to be established. Indeed, 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 …

View Full Text

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.