Hereditary pancreatitis

Hereditary autosomal dominant forms of chronic pancreatitis that are associated with mutations in the CTRC, SPINK1, and PRSS1 genes. Mutations in the CFTR gene have been identified in cases of idiopathic pancreatitis. OMIM: 167800

Also Known As:

Networked: 246 relevant articles (2 outcomes, 17 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pain (Aches)
2.	Chronic Pain
3.	Rare Diseases (Rare Disease)
4.	Pancreatitis
5.	Pancreatic Neoplasms (Pancreatic Cancer)

Experts

1.	Sahin-Tóth, Miklós: 27 articles (03/2022 - 02/2002)
2.	Lerch, Markus M: 11 articles (07/2020 - 02/2002)
3.	Whitcomb, David C: 9 articles (01/2020 - 01/2004)
4.	Hegyi, Péter: 8 articles (07/2020 - 01/2008)
5.	Whitcomb, D C: 8 articles (05/2006 - 09/2000)
6.	Mössner, Joachim: 7 articles (05/2017 - 11/2003)
7.	Mayerle, Julia: 6 articles (07/2020 - 02/2002)
8.	Simon, Peter: 6 articles (03/2015 - 02/2002)
9.	Chen, J M: 6 articles (01/2008 - 01/2000)
10.	Keim, Volker: 6 articles (01/2008 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary pancreatitis:

1.	Narcotics (Narcotic Analgesics)IBA 04/01/2006 - "We conclude that TP is indicated in hereditary pancreatitis and in those with an atrophic, calcified pancreas with small duct disease; that TP is technically arduous but can be completed with very low morbidity and mortality; and that on long-term follow-up, pain relief and abstinence from alcohol and narcotics was excellent with an acceptable QOL." 11/01/2006 - "All 4 patients with familial pancreatitis had their chronic pain improved without long-term narcotic therapy. "
2.	AntioxidantsIBA 01/01/2001 - "Antioxidant treatment in hereditary pancreatitis. " 08/01/1996 - "Antioxidants in hereditary pancreatitis." 01/01/2001 - "Oxidative stress may be one of the principle contributors to pain in hereditary pancreatitis and orally administered antioxidant treatment appears to be effective for control of the condition, in young patients, suffering from this rare disease." 08/01/1996 - "However, group 1 had a significantly higher glutathione transferase level than group 4. We identified antioxidant deficiencies in a group of patients with hereditary pancreatitis. "
3.	TrypsinogenIBA 06/14/2002 - "Recent in vitro studies have suggested that this mechanism might be of pathophysiological relevance in hereditary pancreatitis, a human inborn disorder associated with mutations in the cationic trypsinogen gene. " 01/01/2001 - "The pathobiochemistry of hereditary pancreatitis: studies on recombinant human cationic trypsinogen." 01/01/2001 - "Hereditary pancreatitis (HP) was defined on a clinical basis alone until the first cationic trypsinogen gene (PRSS1) mutation was discovered through the initial phase of the current Pittsburgh Midwest Multi-Center Pancreatic Study Group (MMPSG) HP study in 1996, making genetic testing available. " 09/01/1999 - "Twenty-nine DNAs from control patients and patients with known cationic trypsinogen R117H, A8V, or N21I mutations were selected from the ongoing hereditary pancreatitis study of the Midwest Multicenter Pancreatic Study Group. " 07/01/1999 - "This study was conducted to determine the spectrum and frequency of cationic trypsinogen mutations in unrelated patients with idiopathic or hereditary chronic pancreatitis (CP). "
4.	TrypsinIBA 01/01/2012 - "Studies on hereditary pancreatitis have provided evidence in favor of central role for trypsin activity in the disease. " 03/01/2022 - "We propose that this uniquely trypsin-dependent mechanism explains the development of hereditary chronic pancreatitis in humans. " 12/01/2006 - "This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis." 02/22/2002 - "Loss of Arg(117)-dependent trypsin inhibition can contribute to the development of hereditary pancreatitis associated with the Arg(117) --> His mutation." 08/01/1999 - "Failure of a secondary brake mechanism responsible for inactivation of prematurely activated cationic trypsin in acinar cells seems to be the fundamental defect in type I hereditary pancreatitis (R117H cationic trypsin), and also may explain the pathogenesis of type II hereditary pancreatitis (N211 cationic trypsin). "
5.	Kazal Pancreatic Trypsin InhibitorIBA 01/26/2023 - "This cumulative risk is higher in hereditary pancreatitis: 19 and 12% in the case of PRSS1 and SPINK1 mutations, respectively, at an age of 60 years. " 01/01/2022 - "We identified 44 people from ten families who received molecular diagnoses of hereditary pancreatitis during 2006-21 (including 25 Indigenous people [57%] and 27 women [61%]): 36 with PRSS1, five with SPINK1, and three with PRSS1 and SPINK1 mutations (determined by whole exome sequencing). " 12/01/2021 - "The patient was found to be homozygous for a mutation in the SPINK1 gene, which is associated with hereditary pancreatitis. " 08/01/2021 - "We report a rare case of hereditary pancreatitis in an individual with a serine protease inhibitor Kazal type 1 (SPINK1) mutation. " 10/01/2013 - "Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene."
6.	EnzymesIBA 05/01/2016 - "We will specifically review the following: duct anatomy and pancreas divisum, description of chronic relapsing pancreatitis and its differentiation from recurrent acute pancreatitis and established CP (ECP), natural histories and gene discoveries of alcoholic, idiopathic and hereditary pancreatitis, development of pancreatic cancer in CP, exocrine pancreatic insufficiency and calculation of dose and delivery of enzymes, endoscopic ultrasonography, and autoimmune pancreatitis. " 01/01/2019 - "Recently, loss-of-function mutations in CPA1, which encodes the digestive enzyme carboxypeptidase A1, were described in sporadic early onset cases and in hereditary pancreatitis. " 11/01/2001 - "We specifically amplified exon 3 and the intronic flanking sequences of the cationic trypsinogen gene by nested PCR and performed restriction fragment length polymorphism analysis using the restriction enzyme Afl III. In patients with hereditary pancreatitis the G : A point mutation creates a recognition site for Afl III which is not present in unaffected individuals. " 10/01/1999 - "Blood levels of pancreatic enzymes and PAP were measured in nine families with hereditary pancreatitis; in three of them, the mutation N21I, and in six, the R117H variant of the cationic trypsinogen were present. " 11/01/2004 - "Recent studies in hereditary pancreatitis have clearly revealed that trypsin is the key enzyme at the onset of pancreatitis. "
7.	Peptide Hydrolases (Proteases)FDA Link 08/01/2023 - "Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis." 01/01/2019 - "Although lesions in several other pancreatitic proteases have been previously linked to hereditary pancreatitis, this is the first known instance of a mutation in CELA3B and a defect in translational control contributing to this disease." 01/01/2018 - "Background: Hereditary pancreatitis (HP) is an uncommon condition resulting from an imbalance of pancreatic proteases. " 11/01/2003 - "These studies, as well as investigations that have addressed the role of mutant trypsin in the disease onset of hereditary pancreatitis, suggest that trypsin may not be critical for triggering pancreatitis but might have a protective role against the action of some of the other digestive proteases. " 09/01/2017 - "The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis. "
8.	Protein Isoforms (Isoforms)IBA 06/17/2016 - "Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated. " 10/10/2018 - "To investigate whether the ferret would be appropriate to study hereditary pancreatitis associated with increased trypsinogen autoactivation, we purified and cloned the trypsinogen isoforms from the ferret pancreas and studied their functional properties. " 03/01/2022 - "T7K24R mice carry mutation p.K24R in mouse cationic trypsinogen (isoform T7), which is analogous to the human hereditary pancreatitis-associated mutation p.K23R. "
9.	Amlodipine (Norvasc)FDA LinkGeneric 11/01/2007 - "Hereditary pancreatitis amlodipine trial: a pilot study of a calcium-channel blocker in hereditary pancreatitis."
10.	Calcium Channel Blockers (Blockers, Calcium Channel)IBA 11/01/2007 - "Hereditary pancreatitis amlodipine trial: a pilot study of a calcium-channel blocker in hereditary pancreatitis."

Therapies and Procedures

1.	Therapeutics 01/01/2016 - "Endoscopic Therapy for Complete Pancreatic Ductal Obstruction in a Child With Hereditary Pancreatitis." 12/01/2014 - "This therapy should be recommended especially for children with hereditary pancreatitis and patients with anatomic anomalies of the pancreatic duct." 05/01/2013 - "Most children and young adults with hereditary pancreatitis can be managed initially with endoscopic therapy. " 07/01/2002 - "Hereditary pancreatitis: clinical presentation, ERCP findings, and outcome of endoscopic therapy." 03/01/1992 - "Surgical therapy and long-term follow-up of childhood hereditary pancreatitis."
2.	Pancreaticojejunostomy 02/01/2000 - "The aim of this study was to evaluate the role of longitudinal pancreaticojejunostomy (modified Puestow procedure) in the treatment of complicated hereditary pancreatitis (HP) in children. " 05/01/1995 - "We report a 17 years old male with chronic hereditary pancreatitis that was treated with pancreatojejunostomy drainage."
3.	Sphincterotomy 02/01/2006 - "The first child presented with familial pancreatitis: he was treated by sphincterotomy and lithiasis extraction. " 04/01/1983 - "Our report emphasizes three points: (1) that chronic pancreatitis does occur in young children and is most commonly caused by hereditary pancreatitis or fibrosing pancreatitis; (2) that endoscopic retrograde cholangiopancreatiography is a safe and valuable tool for the study of pancreatic and common bile ducts; and (3) that surgical intervention is indicated to drain the pancreatic duct in patients with hereditary pancreatitis, and sphincterotomy is an effective therapy for patients with fibrosing pancreatitis."
4.	Pancreatectomy 01/01/2020 - "Gene Expression Profiling of the Pancreas in Patients Undergoing Total Pancreatectomy With Islet Autotransplant Suggests Unique Features of Alcoholic, Idiopathic, and Hereditary Pancreatitis." 04/01/2018 - "Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis." 02/01/2008 - "A 7-year-old girl with severe hereditary pancreatitis underwent total pancreatectomy. " 11/01/2021 - "Total pancreatectomy with islet cell autotransplantation in a 2-year-old child with hereditary pancreatitis due to a PRSS1 mutation." 10/04/2021 - "South Australian experience with paediatric total pancreatectomy and islet autotransplantation for PRSS1-associated hereditary pancreatitis."
5.	Stents 11/01/1999 - "We report a child with hereditary pancreatitis treated by means of a pancreatic duct stent placed via endoscopic retrograde cholangiopanctreatography resulting in long-term control of symptoms and speculate that earlier intervention may alter the disease course." 03/01/2015 - "Incidence of post-ERCP pancreatitis from direct pancreatic juice collection in hereditary pancreatitis and familial pancreatic cancer before and after the introduction of prophylactic pancreatic stents and rectal diclofenac."