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

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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. 1 Department of Pediatrics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  2. 2 Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  3. 3 Liver Transplantation Center, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy
  4. 4 Department 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

https://doi.org/10.1136/gutjnl-2018-316443

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    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 …

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    Footnotes

    • Contributors AE and AP collected the clinical data and wrote the first draft of the manuscript. MP and PLC made clinical evaluations of the patients, revised the draft and contributed to the final manuscript. CA performed all the genetic evaluations. FC followed the clinical course of patients over the years, performed the instrumental procedures and revised the final manuscript. FT contributed to the patients’ clinical evaluation. Each author listed on the manuscript has seen and approved the submission of this version of the manuscript and takes full responsibility for same.

    • Funding This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; internally peer reviewed.