Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for "protective" (PRSS2) and "destructive" (CTRC) genetic factors

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association
P FelderbauerK Bulut

Abstract

A relationship between primary hyperparathyroidism (pHPT) and pancreatitis has long been debated and remains a rare epiphenomenon. In a cohort of patients with pHPT and pancreatitis mutations in the serine protease inhibitor Kazal type I (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes, that increase the risk for pancreatitis have already been detected. Among the identification of additional pancreatitis-associtated mutations in the Chymotrypsin C gene (CTRC) it became clear that also protective genetic variants exist in the anionic trypsinogen gene (PRSS2) that decrease susceptibility for pancreatitis. Our aim was to detect either protective or inducing genetic factors in a large cohort of pHPT patients. Among 1,259 patients with pHPT, 57 patients were identified with pancreatitis (4.5%). DNA was available from 31 patients (16 acute pancreatitis/15 chronic pancreatitis). These individuals and 100 patients with pHPT without pancreatitis were analysed for CTRC (p.R254W and p.K247_R254del) and PRSS2 (p.G191R) mutations using melting curve analysis and DNA sequencing or PCR and gel electrophoresis (in case of p.K247_R254del CTRC). 2 of 31 patients with pHPT and pancreatitis carried the CTRC p.R254W mis...Continue Reading

Citations

Jun 3, 2011·Journal of Gastroenterology and Hepatology·Jiayi Zhou, Miklós Sahin-Tóth
Dec 1, 2012·Clinical Journal of Gastroenterology·Takahiro UrataYoshi Takekuma
Apr 30, 2013·Gastroenterology·Dhiraj Yadav, Albert B Lowenfels
Jan 22, 2013·Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición·Cristina VeraJavier Granell
Aug 29, 2012·Surgery·Thomas W Frick
Nov 26, 2015·Journal of Pediatric Gastroenterology and Nutrition·Sohail Z HusainAliye Uc
Aug 10, 2012·Journal of Clinical Gastroenterology·Harrison X BaiSohail Z Husain
Apr 8, 2020·Journal of Endocrinological Investigation·R A MisgarA A Malik
Jun 22, 2021·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·Saurabh AroraDhananjaya Shanthaiah

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