nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-226-6-205-214nogr-2821Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSГенетические аспекты наследственного панкреатитаGenetic aspects of hereditary pancreatitishttps://orcid.org/0000-0001-5146-6925ЯноваТ. И.YanovaT. I.yanova.tania@gmail.comhttps://orcid.org/0000-0001-6395-0407КондратьеваЕ. И.KondratyevaE. I.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»РоссияScientific institution Medical Genetic Research Center named after Academican N. P. BochkovRussian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»; Государственное бюджетное учреждение здравоохранения Московской области«Научно-исследовательский клинический институт детства Министерства здравоохранения Московской области»РоссияScientific institution Medical Genetic Research Center named after Academican N. P. Bochkov; Reasearch Clinical Institute of Childhood of the Ministry of Health of the Moscow RegionRussian Federation20242210202406205214Copyright © Янова Т.И., Кондратьева Е.И., 20242024Янова Т.И., Кондратьева Е.И.Yanova T.I., Kondratyeva E.I.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/2821

Наследственный панкреатит - генетически детерминированное заболевание, которое встречается у 1-10% взрослых пациентов с хроническим панкреатитом и более чем у 50% больных детского возраста. У пациентов с наследственным панкреатитом повышается риск развития осложнений, рака поджелудочной железы, поэтому раннее выявление имеет важное значение для скрининга возникновения злокачественного новообразования. Целью обзора является анализ данных литературы о современных подходах к диагностике наследственного панкреатита и ознакомление с диагностическими методами. Методы Проведен поиск литературы в базах данных PubMed, Web of Science, UpToDate, генетических баз данных с использованием ключевых слов. Использовались данные 80 статей и экспертное мнение специалистов, оказывающих помощь пациентам с панкреатитом. Заключение Проведение молекулярно-генетической диагностики играет важную роль в изучении патогенеза, оценки вариантов течения заболевания. В статье представлены известные на сегодняшний день аспекты, важные для работы с пациентами с наследственным панкреатитом.

Hereditary pancreatitis is a genetically determined disease that occurs in 1-10% of adult patients with chronic pancreatitis and in more than 50% of pediatric patients. Patients with hereditary pancreatitis have an increased risk of developing complications, pancreatic cancer, therefore early detection is important for screening for the occurrence of malignant neoplasm. The purpose of the review was to analyze the literature data on modern approaches to the diagnosis of hereditary pancreatitis and to familiarize with diagnostic methods. Methods A literature search was conducted in the databases PubMed, Web of Science, UpToDate, genetic databases using keywords. The data of 80 articles and the expert opinion of specialists providing care to patients with pancreatitis were used. Conclusion Carrying out molecular genetic diagnostics plays an important role in the study of pathogenesis, assessment of variants of the course of the disease. The article presents the currently known aspects that are important for working with patients with hereditary pancreatitis.

наследственный панкреатитхронический панкреатиткритерии диагностикипатогенетический механизмклиническое ведениеосложненияпрогнозhereditary pancreatitischronic pancreatitisdiagnostic criteriapathogenetic mechanismclinical managementcomplicationsprognosisReferencesLe Bodic L. et al. An exceptional genealogy for hereditary chronic pancreatitis. Digestive diseases and sciences. 1996;41(7):1504-1510.Le Bodic L. et al. An exceptional genealogy for hereditary chronic pancreatitis. Digestive diseases and sciences. 1996;41(7):1504-1510.Comfort M. W., Steinberg A. G. Pedigree of a family with hereditary relapsing pancreatitis. Gastroenterology. 1952;21:54-64.Comfort M. W., Steinberg A. G. Pedigree of a family with hereditary relapsing pancreatitis. Gastroenterology. 1952;21:54-64.Freud E., Barak R., Ziv N., Leiser A., Dinari G., Mor C., Zer M. Familial chronic recurrent pancreatitis in identical twins. Case report and review of the literature. Arch Surg. 1992; 127:1125-1128.Freud E., Barak R., Ziv N., Leiser A., Dinari G., Mor C., Zer M. Familial chronic recurrent pancreatitis in identical twins. Case report and review of the literature. Arch Surg. 1992; 127:1125-1128.McDougal J. C., Dharmadhikari N. D., Shaikh S. D. Disorders of the Pancreas. Prim Care. 2023;50(3):391-409. doi: 10.1016/j.pop.2023.03.005.McDougal J. C., Dharmadhikari N. D., Shaikh S. D. Disorders of the Pancreas. Prim Care. 2023;50(3):391-409. doi: 10.1016/j.pop.2023.03.005.Shelton C., LaRusch J., Whitcomb D. C. Pancreatitis Overview. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle. 2014.Shelton C., LaRusch J., Whitcomb D. C. Pancreatitis Overview. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle. 2014.Hoß K. F., Attenberger U. I. Klassifikation der Pankreatitis Classification of pancreatitis]. Radiologe. 2021;61(6):524-531. doi: 10.1007/s00117-021-00855-x.Hoß K. F., Attenberger U. I. Klassifikation der Pankreatitis Classification of pancreatitis]. Radiologe. 2021;61(6):524-531. doi: 10.1007/s00117-021-00855-x.Shelton C., Solomon S., LaRusch J. et al. PRSS1-Related Hereditary Pancreatitis. 2012 Mar 1 Updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84399/Shelton C., Solomon S., LaRusch J. et al. PRSS1-Related Hereditary Pancreatitis. 2012 Mar 1 Updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84399/Geissl G. Chronic pancreatitis. MMW, Munchener Medizinische Wochenschrift, 1978;120(39), 1248-1248. doi: 10.1097/MOG.0000000000000461.Geissl G. Chronic pancreatitis. MMW, Munchener Medizinische Wochenschrift, 1978;120(39), 1248-1248. doi: 10.1097/MOG.0000000000000461.Fu Y., Lucas A. L. Genetic Evaluation of Pancreatitis. Gastrointestinal Endoscopy Clinics. 2022;32(1): 27-43. doi: 10.1016/j.giec.2021.08.006.Fu Y., Lucas A. L. Genetic Evaluation of Pancreatitis. Gastrointestinal Endoscopy Clinics. 2022;32(1): 27-43. doi: 10.1016/j.giec.2021.08.006.Tan M., Schaffalitzky de Muckadell O. B., Jørgensen M. T. Hereditary pancreatitis. Ugeskrift for Laeger. 2020;182(7), V11190676-V11190676.Tan M., Schaffalitzky de Muckadell O. B., Jørgensen M. T. Hereditary pancreatitis. Ugeskrift for Laeger. 2020;182(7), V11190676-V11190676.Shelton C. A., Grubs R. E., Umapathy C., Yadav D., Whitcomb D. C. Impact of hereditary pancreatitis on patients and their families. J Genet Couns. 2020;29(6):971-982. doi: 10.1002/jgc4.1221.Shelton C. A., Grubs R. E., Umapathy C., Yadav D., Whitcomb D. C. Impact of hereditary pancreatitis on patients and their families. J Genet Couns. 2020;29(6):971-982. doi: 10.1002/jgc4.1221.Teich Niels et al. “Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis”. Human mutation. 2006;27.8: 721-730. doi: 10.1002/humu.20343.Teich Niels et al. “Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis”. Human mutation. 2006;27.8: 721-730. doi: 10.1002/humu.20343.Chen J. M., Raguenes O., Ferec C., Deprez P. H., Verellen-Dumoulin C. A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis. J Med Genet. 2000;37(11): E36. doi: 10.1136/jmg.37.11.e36.Chen J. M., Raguenes O., Ferec C., Deprez P. H., Verellen-Dumoulin C. A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis. J Med Genet. 2000;37(11): E36. doi: 10.1136/jmg.37.11.e36.Müller R., Aghdassi A. A., Kruse J. et al. Lived Experience of Hereditary Chronic Pancreatitis - A Qualitative Interview Study. Chronic Illn. 2022;18(4):818-833. doi: 10.1177/17423953211039774.Müller R., Aghdassi A. A., Kruse J. et al. Lived Experience of Hereditary Chronic Pancreatitis - A Qualitative Interview Study. Chronic Illn. 2022;18(4):818-833. doi: 10.1177/17423953211039774.Hasan A., Moscoso D. I., Kastrinos F. The Role of Genetics in Pancreatitis. Gastrointest Endosc Clin N Am. 2018;28(4):587-603. doi: 10.1016/j.giec.2018.06.001.Hasan A., Moscoso D. I., Kastrinos F. The Role of Genetics in Pancreatitis. Gastrointest Endosc Clin N Am. 2018;28(4):587-603. doi: 10.1016/j.giec.2018.06.001.Sahin-Tóth M. Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021. Pancreas. 2022;51(4):297-301. doi: 10.1097/MPA.0000000000002031.Sahin-Tóth M. Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021. Pancreas. 2022;51(4):297-301. doi: 10.1097/MPA.0000000000002031.Rosendahl J, Witt H. Pathogenese der chronischen Pankreatitis Pathogenesis of chronic pancreatitis].Internist (Berl). 2021;62(10):1007-1014. doi: 10.1007/s00108-021-01150-6.Rosendahl J, Witt H. Pathogenese der chronischen Pankreatitis Pathogenesis of chronic pancreatitis].Internist (Berl). 2021;62(10):1007-1014. doi: 10.1007/s00108-021-01150-6.Simon P., Weiss F. U., Zimmer K. P. et al. Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis. JAMA. 2002;288(17):2122. doi: 10.1001/jama.288.17.2122.Simon P., Weiss F. U., Zimmer K. P. et al. Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis. JAMA. 2002;288(17):2122. doi: 10.1001/jama.288.17.2122.Drewes Asbjørn M. et al. “Assessment of pain associated with chronic pancreatitis: An international consensus guideline”. Pancreatology. 2012;21.7: 1256-1284.Drewes Asbjørn M. et al. “Assessment of pain associated with chronic pancreatitis: An international consensus guideline”. Pancreatology. 2012;21.7: 1256-1284.Gardner Timothy B. et al. “Chronic pancreatitis and its effect on employment and health care experience: results of a prospective American multicenter study”. Pancreas. 2010;39.4: 498-501.Gardner Timothy B. et al. “Chronic pancreatitis and its effect on employment and health care experience: results of a prospective American multicenter study”. Pancreas. 2010;39.4: 498-501.https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=676https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=676Tan M., Schaffalitzky de Muckadell O. B., Jørgensen M. T. Hereditary pancreatitis. Ugeskrift for Laeger. 2020;182(7), V11190676-V11190676.Tan M., Schaffalitzky de Muckadell O. B., Jørgensen M. T. Hereditary pancreatitis. Ugeskrift for Laeger. 2020;182(7), V11190676-V11190676.Nelson H. A., Johnson L. M. Hereditary pancreatitis in a young adult: Acute to chronic. Clin Biochem. 2021;98:78-80. doi: 10.1016/j.clinbiochem.2021.09.006.Nelson H. A., Johnson L. M. Hereditary pancreatitis in a young adult: Acute to chronic. Clin Biochem. 2021;98:78-80. doi: 10.1016/j.clinbiochem.2021.09.006.Whitcomb D. C.; North American Pancreatitis Study Group. Pancreatitis: TIGAR-O Version 2 Risk/Etiology Checklist With Topic Reviews, Updates, and Use Primers. Clin Transl Gastroenterol. 2019;10(6): e00027. doi: 10.14309/ctg.0000000000000027Whitcomb D. C.; North American Pancreatitis Study Group. Pancreatitis: TIGAR-O Version 2 Risk/Etiology Checklist With Topic Reviews, Updates, and Use Primers. Clin Transl Gastroenterol. 2019;10(6): e00027. doi: 10.14309/ctg.0000000000000027Bordin D. S., Kucheryavy Yu.A., and Kiryukova M. A. “UPDATED ETIOLOGICAL CLASSIFICATION OF PANCREATITIS TIGAR-O (VERSION 2): ADAPTATION FOR RUSSIAN CLINICAL PRACTICE”. Almanac of Clinical Medicine. 2020, vol. 48, no. 6, pp. 349-363.@@ Бордин Д. С., Кучерявый Ю. А., and Кирюкова М. А. “ОБНОВЛЕННАЯ ЭТИОЛОГИЧЕСКАЯ КЛАССИФИКАЦИЯ ПАНКРЕАТИТОВ TIGAR-O (ВЕРСИЯ 2): АДАПТАЦИЯ ДЛЯ РОССИЙСКОЙ КЛИНИЧЕСКОЙ ПРАКТИКИ” Альманах клинической медицины, vol. 48, no. 6, 2020, pp. 349-363.Bordin D. S., Kucheryavy Yu.A., and Kiryukova M. A. “UPDATED ETIOLOGICAL CLASSIFICATION OF PANCREATITIS TIGAR-O (VERSION 2): ADAPTATION FOR RUSSIAN CLINICAL PRACTICE”. Almanac of Clinical Medicine. 2020, vol. 48, no. 6, pp. 349-363.@@ Бордин Д. С., Кучерявый Ю. А., and Кирюкова М. А. “ОБНОВЛЕННАЯ ЭТИОЛОГИЧЕСКАЯ КЛАССИФИКАЦИЯ ПАНКРЕАТИТОВ TIGAR-O (ВЕРСИЯ 2): АДАПТАЦИЯ ДЛЯ РОССИЙСКОЙ КЛИНИЧЕСКОЙ ПРАКТИКИ” Альманах клинической медицины, vol. 48, no. 6, 2020, pp. 349-363.Conwell D. L., Banks P. A., Sandhu B. S. et al. Validation of Demographics, Etiology, and Risk Factors for Chronic Pancreatitis in the USA: A Report of the North American Pancreas Study (NAPS) Group. Digestive diseases and sciences, 2017;62(8), 2133-2140. doi: 10.1007/s10620-017-4621-z.Conwell D. L., Banks P. A., Sandhu B. S. et al. Validation of Demographics, Etiology, and Risk Factors for Chronic Pancreatitis in the USA: A Report of the North American Pancreas Study (NAPS) Group. Digestive diseases and sciences, 2017;62(8), 2133-2140. doi: 10.1007/s10620-017-4621-z.Panchoo A. V., VanNess G. H., Rivera-Rivera E., Laborda T. J. Hereditary pancreatitis: An updated review in pediatrics. World journal of clinical pediatrics. 2022;11(1):27-37. doi: 10.5409/wjcp.v11.i1.27.Panchoo A. V., VanNess G. H., Rivera-Rivera E., Laborda T. J. Hereditary pancreatitis: An updated review in pediatrics. World journal of clinical pediatrics. 2022;11(1):27-37. doi: 10.5409/wjcp.v11.i1.27.Prommer R., Kienbauer M., Kargl S., Schöfl R. Hereditary pancreatitis in childhood: course of disease and complications. Wiener klinische Wochenschrift. 2021;133(13-14), 669-673. doi: 10.1007/s00508-021-01869-0.Prommer R., Kienbauer M., Kargl S., Schöfl R. Hereditary pancreatitis in childhood: course of disease and complications. Wiener klinische Wochenschrift. 2021;133(13-14), 669-673. doi: 10.1007/s00508-021-01869-0.Belmer S. V., Razumovsky A. Yu., Khavkin A. I., Kornienko E. A., Privorotsky V. F. Diseases of the pancreas in children. Moscow: ID «MEDPRAKTIKA-M», 2019, 528 p. (in Russ.)@@ Бельмер С. В., Разумовский А. Ю., Хавкин А. И., Корниенко Е. А., Приворотский В. Ф. Болезни поджелудочной железы у детей. М.: ИД «МЕДПРАКТИКА-М»,2019, 528 с.Belmer S. V., Razumovsky A. Yu., Khavkin A. I., Kornienko E. A., Privorotsky V. F. Diseases of the pancreas in children. Moscow: ID «MEDPRAKTIKA-M», 2019, 528 p. (in Russ.)@@ Бельмер С. В., Разумовский А. Ю., Хавкин А. И., Корниенко Е. А., Приворотский В. Ф. Болезни поджелудочной железы у детей. М.: ИД «МЕДПРАКТИКА-М»,2019, 528 с.Etemad B., Whitcomb D. C. Chronic pancreatitis: diagnosis, classification. Updated clinical guidelines. Journal: GDG. 2020, Vol. 120, No. 3. pp. 682-707.Etemad B., Whitcomb D. C. Chronic pancreatitis: diagnosis, classification. Updated clinical guidelines. Journal: GDG. 2020, Vol. 120, No. 3. pp. 682-707.Spinner NB, Loomes KM, Krantz ID, et al. Alagille Syndrome. 2000 May 19 Updated 2024 Jan 4]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1273/Spinner NB, Loomes KM, Krantz ID, et al. Alagille Syndrome. 2000 May 19 Updated 2024 Jan 4]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1273/Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. 2012 May 17 Updated 2016 Oct 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK92946/Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. 2012 May 17 Updated 2016 Oct 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK92946/Litvinova, Maria Mikhailovna et al. «Spectrum of CFTR gene mutations in patients with chronic pancreatitis in Russia». Pediatric Dietology. 2020;18(3): 5-18. (in Russ.) doi: 10.20953/1727-5784-2020-3-5-18.@@ Литвинова, Мария Михайловна et al. «Спектр мутаций гена CFTR у больных хроническим панкреатитом в России.» Вопросы детской диетологии 2020;18(3): 5-18. doi: 10.20953/1727-5784-2020-3-5-18.Litvinova, Maria Mikhailovna et al. «Spectrum of CFTR gene mutations in patients with chronic pancreatitis in Russia». Pediatric Dietology. 2020;18(3): 5-18. (in Russ.) doi: 10.20953/1727-5784-2020-3-5-18.@@ Литвинова, Мария Михайловна et al. «Спектр мутаций гена CFTR у больных хроническим панкреатитом в России.» Вопросы детской диетологии 2020;18(3): 5-18. doi: 10.20953/1727-5784-2020-3-5-18.Banks P. A., Freeman M. L.; Practice Parameters Committee of the American College of Gastroenterology. Practice guidelines in acute pancreatitis. Am J Gastroenterol. 2006;101(10):2379-2400. doi: 10.1111/j.1572-0241.2006.00856.x.Banks P. A., Freeman M. L.; Practice Parameters Committee of the American College of Gastroenterology. Practice guidelines in acute pancreatitis. Am J Gastroenterol. 2006;101(10):2379-2400. doi: 10.1111/j.1572-0241.2006.00856.x.Guda N. M., Muddana V., Whitcomb D. C. et al. Recurrent Acute Pancreatitis: International State-of-the-Science Conference With Recommendations. Pancreas. 2018;47(6):653-666. doi: 10.1097/MPA.0000000000001053.Guda N. M., Muddana V., Whitcomb D. C. et al. Recurrent Acute Pancreatitis: International State-of-the-Science Conference With Recommendations. Pancreas. 2018;47(6):653-666. doi: 10.1097/MPA.0000000000001053.Shelton C., LaRusch J., Whitcomb D. C. Pancreatitis Overview. 2014 Mar 13 Updated 2020 Jul 2]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK190101/Shelton C., LaRusch J., Whitcomb D. C. Pancreatitis Overview. 2014 Mar 13 Updated 2020 Jul 2]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK190101/Whitcomb D. C. Primer on Precision Medicine for Complex Chronic Disorders. Clin Transl Gastroenterol. 2019;10(7): e00067. doi: 10.14309/ctg.0000000000000067.Whitcomb D. C. Primer on Precision Medicine for Complex Chronic Disorders. Clin Transl Gastroenterol. 2019;10(7): e00067. doi: 10.14309/ctg.0000000000000067.Ammer-Herrmenau C., Ellenrieder V., Neesse A. Chronische Pankreatitis: Update Diagnostik und Therapie. Zeitschrift für Gastroenterologie. 2022;60(07), 1131-1138.Ammer-Herrmenau C., Ellenrieder V., Neesse A. Chronische Pankreatitis: Update Diagnostik und Therapie. Zeitschrift für Gastroenterologie. 2022;60(07), 1131-1138.Wertheim-Tysarowska K., Oracz G., Rygiel A. M. Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update. Genes. 2021;12(5), 785. doi: 10.3390/genes12050785.Wertheim-Tysarowska K., Oracz G., Rygiel A. M. Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update. Genes. 2021;12(5), 785. doi: 10.3390/genes12050785.Howes, Nathan, et al. “Clinical and genetic characteristics of hereditary pancreatitis in Europe.” Clinical Gastroenterology and Hepatology 2.3 (2004): 252-261.Howes, Nathan, et al. “Clinical and genetic characteristics of hereditary pancreatitis in Europe.” Clinical Gastroenterology and Hepatology 2.3 (2004): 252-261.Girodon E., Rebours V., Chen J. M., Pagin A., Levy P., Ferec C., Bienvenu T. Clinical interpretation of PRSS1 variants in patients with pancreatitis. Clinics and Research in Hepatology and Gastroenterology. 2021;45(1): 101497. doi: 10.1016/j.clinre.2020.07.004.Girodon E., Rebours V., Chen J. M., Pagin A., Levy P., Ferec C., Bienvenu T. Clinical interpretation of PRSS1 variants in patients with pancreatitis. Clinics and Research in Hepatology and Gastroenterology. 2021;45(1): 101497. doi: 10.1016/j.clinre.2020.07.004.Nishimori I, Onishi S. Hereditary pancreatitis in Japan: a review of pancreatitis-associated gene mutations. Pancreatology. 2001;1(5):444-447. doi: 10.1159/000055845.Nishimori I, Onishi S. Hereditary pancreatitis in Japan: a review of pancreatitis-associated gene mutations. Pancreatology. 2001;1(5):444-447. doi: 10.1159/000055845.Wu D., Bampton T. J., Scott H. S., et al. The clinical and genetic features of hereditary pancreatitis in South Australia. Med J Aust. 2022;216(11):578-582. doi: 10.5694/mja2.51517.Wu D., Bampton T. J., Scott H. S., et al. The clinical and genetic features of hereditary pancreatitis in South Australia. Med J Aust. 2022;216(11):578-582. doi: 10.5694/mja2.51517.Joergensen, Maiken Thyregod, et al. “Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark.” Official journal of the American College of Gastroenterology| ACG 105.8 (2010): 1876-1883.Joergensen, Maiken Thyregod, et al. “Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark.” Official journal of the American College of Gastroenterology| ACG 105.8 (2010): 1876-1883.Weiss F. U., Laemmerhirt F., Lerch M. M. Etiology and Risk Factors of Acute and Chronic Pancreatitis. Visceral medicine. 2019;35(2):73-81. doi: 10.1159/000499138.Weiss F. U., Laemmerhirt F., Lerch M. M. Etiology and Risk Factors of Acute and Chronic Pancreatitis. Visceral medicine. 2019;35(2):73-81. doi: 10.1159/000499138.Lowenfels A. B., Maisonneuve P., DiMagno E. P., Elitsur Y., Gates Jr L. K., Perrault J.; International Hereditary Pancreatitis Study Group. Hereditary pancreatitis and the risk of pancreatic cancer. Journal of the national cancer institute. 1997;89(6): 442-446.Lowenfels A. B., Maisonneuve P., DiMagno E. P., Elitsur Y., Gates Jr L. K., Perrault J.; International Hereditary Pancreatitis Study Group. Hereditary pancreatitis and the risk of pancreatic cancer. Journal of the national cancer institute. 1997;89(6): 442-446.Chhoda A., Lu L., Clerkin B. M., Risch H., Farrell J. J. Current Approaches to Pancreatic Cancer Screening. The American journal of pathology. 2019;189(1), 22-35. doi: 10.1016/j.ajpath.2018.09.013.Chhoda A., Lu L., Clerkin B. M., Risch H., Farrell J. J. Current Approaches to Pancreatic Cancer Screening. The American journal of pathology. 2019;189(1), 22-35. doi: 10.1016/j.ajpath.2018.09.013.Le Cosquer G., Maulat C., Bournet B., Cordelier P., Buscail E., Buscail L. Pancreatic Cancer in Chronic Pancreatitis: Pathogenesis and Diagnostic Approach. Cancers (Basel). 2023;15(3):761. Published 2023 Jan 26. doi: 10.3390/cancers15030761.Le Cosquer G., Maulat C., Bournet B., Cordelier P., Buscail E., Buscail L. Pancreatic Cancer in Chronic Pancreatitis: Pathogenesis and Diagnostic Approach. Cancers (Basel). 2023;15(3):761. Published 2023 Jan 26. doi: 10.3390/cancers15030761.Shelton C. A., Umapathy C., Stello K., Yadav D., Whitcomb D. C. Hereditary pancreatitis in the United States: survival and rates of pancreatic cancer. The American journal of gastroenterology. 2018;113(9):1376.Shelton C. A., Umapathy C., Stello K., Yadav D., Whitcomb D. C. Hereditary pancreatitis in the United States: survival and rates of pancreatic cancer. The American journal of gastroenterology. 2018;113(9):1376.Goggins M., Overbeek K. A., Brand R., Syngal S., Del Chiaro M., Bartsch D. K., Bruno, M. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2019.Goggins M., Overbeek K. A., Brand R., Syngal S., Del Chiaro M., Bartsch D. K., Bruno, M. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2019.Scholten L. et al. Prophylactic total pancreatectomy in individuals at high risk of pancreatic ductal adenocarcinoma (PROPAN): systematic review and shared decision-making programme using decision tables. United European gastroenterology journal. 2020;8(8):865-877.Scholten L. et al. Prophylactic total pancreatectomy in individuals at high risk of pancreatic ductal adenocarcinoma (PROPAN): systematic review and shared decision-making programme using decision tables. United European gastroenterology journal. 2020;8(8):865-877.Idachaba S. et al. A review of pancreatic cancer: epidemiology, genetics, screening, and management. Open access Macedonian journal of medical sciences. 2019;7(4):663.Idachaba S. et al. A review of pancreatic cancer: epidemiology, genetics, screening, and management. Open access Macedonian journal of medical sciences. 2019;7(4):663.Pantaleo A. et al. Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review. Cancers. 2023;16(1):56.Pantaleo A. et al. Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review. Cancers. 2023;16(1):56.Fu Y., Lucas, A. L. Genetic Evaluation of Pancreatitis. Gastrointestinal endoscopy clinics of North America. 2022;32(1):27-43. doi: 10.1016/j.giec.2021.08.006.Fu Y., Lucas, A. L. Genetic Evaluation of Pancreatitis. Gastrointestinal endoscopy clinics of North America. 2022;32(1):27-43. doi: 10.1016/j.giec.2021.08.006.Lee B., Adamska J. Z., Namkoong H., et al. Distinct immune characteristics distinguish hereditary and idiopathic chronic pancreatitis. J Clin Invest. 2020;130(5):2705-2711. doi: 10.1172/JCI134066.Lee B., Adamska J. Z., Namkoong H., et al. Distinct immune characteristics distinguish hereditary and idiopathic chronic pancreatitis. J Clin Invest. 2020;130(5):2705-2711. doi: 10.1172/JCI134066.Mayerle J., Sendler M., Hegyi E., Beyer G., Lerch M. M., Sahin-Tóth M. Genetics, cell biology, and pathophysiology of pancreatitis. Gastroenterology. 2019;156(7):1951-1968. doi: 10.1053/j.gastro.2018.11.081.Mayerle J., Sendler M., Hegyi E., Beyer G., Lerch M. M., Sahin-Tóth M. Genetics, cell biology, and pathophysiology of pancreatitis. Gastroenterology. 2019;156(7):1951-1968. doi: 10.1053/j.gastro.2018.11.081.Askari M. et al. Identification of a missense variant in CLDN2 in obstructive azoospermia. Journal of Human Genetics. 2019;64(10):1023-1032.Askari M. et al. Identification of a missense variant in CLDN2 in obstructive azoospermia. Journal of Human Genetics. 2019;64(10):1023-1032.Girodon E., Rebours V., Chen J. M. et al. Clinical interpretation of PRSS1 variants in patients with pancreatitis. Clin Res Hepatol Gastroenterol. 2021;45(1):101497. doi: 10.1016/j.clinre.2020.07.004.Girodon E., Rebours V., Chen J. M. et al. Clinical interpretation of PRSS1 variants in patients with pancreatitis. Clin Res Hepatol Gastroenterol. 2021;45(1):101497. doi: 10.1016/j.clinre.2020.07.004.Felicelli C., Pezhouh M. K. Histopathology of SPINK-1 Hereditary Pancreatitis.International journal of surgical pathology. 2021;29(5): 529-533. doi: 10.1177/1066896920980086.Felicelli C., Pezhouh M. K. Histopathology of SPINK-1 Hereditary Pancreatitis.International journal of surgical pathology. 2021;29(5): 529-533. doi: 10.1177/1066896920980086.Felicelli, Christopher, and Maryam K. Pezhouh. “Histopathology of SPINK-1 Hereditary Pancreatitis.” International Journal of Surgical Pathology. 2021;29(5): 529-533. doi: 10.1177/1066896920980086.Felicelli, Christopher, and Maryam K. Pezhouh. “Histopathology of SPINK-1 Hereditary Pancreatitis.” International Journal of Surgical Pathology. 2021;29(5): 529-533. doi: 10.1177/1066896920980086.Koziel D., Gluszek S., Kowalik A. et al. Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis. BMC Gastroenterol. 2015;15:70. doi: 10.1186/s12876-015-0302-6.Koziel D., Gluszek S., Kowalik A. et al. Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis. BMC Gastroenterol. 2015;15:70. doi: 10.1186/s12876-015-0302-6.Witt H., Luck W., Hennies H. C., Classen M., Kage A., Lass U., Landt O., Becker M. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nature genetics. 2000;25(2), 213-216. doi: 10.1038/76088.Witt H., Luck W., Hennies H. C., Classen M., Kage A., Lass U., Landt O., Becker M. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nature genetics. 2000;25(2), 213-216. doi: 10.1038/76088.Rowen L., Koop B. F., Hood L. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. Science. 1996;272(5269):1755-1762. doi: 10.1126/science.272.5269.1755.Rowen L., Koop B. F., Hood L. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. Science. 1996;272(5269):1755-1762. doi: 10.1126/science.272.5269.1755.Witt H., Sahin-Tóth M., Landt O. et al. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet. 2006;38:668-673. doi: 10.1038/ng1797.Witt H., Sahin-Tóth M., Landt O. et al. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet. 2006;38:668-673. doi: 10.1038/ng1797.Wang J., Wan J., Wang L., Pandol S. J., Bi Y., Ji B. Wild-type human PRSS2 and PRSS1R122H cooperatively initiate spontaneous hereditary pancreatitis in transgenic mice. Gastroenterology. 2022;163(1):313-315. doi: 10.1053/j.gastro.2022.03.009.Wang J., Wan J., Wang L., Pandol S. J., Bi Y., Ji B. Wild-type human PRSS2 and PRSS1R122H cooperatively initiate spontaneous hereditary pancreatitis in transgenic mice. Gastroenterology. 2022;163(1):313-315. doi: 10.1053/j.gastro.2022.03.009.Rosendahl J., Kirsten H., Hegyi E. et al. Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. Gut. 2018;67(10):1855-1863. doi: 10.1136/gutjnl-2017-314454.Rosendahl J., Kirsten H., Hegyi E. et al. Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. Gut. 2018;67(10):1855-1863. doi: 10.1136/gutjnl-2017-314454.Jermusyk A., Zhong J., Connelly K. E. et al. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. Am J Hum Genet. 2021;108(10):1852-1865. doi: 10.1016/j.ajhg.2021.09.002.Jermusyk A., Zhong J., Connelly K. E. et al. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. Am J Hum Genet. 2021;108(10):1852-1865. doi: 10.1016/j.ajhg.2021.09.002.Witt H. et al. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nature genetics. 2013;45(10):1216-1220.Witt H. et al. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nature genetics. 2013;45(10):1216-1220.Tamura K. et al. Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer. Proceedings of the National Academy of Sciences. 2018l;115(18):4767-4772.Tamura K. et al. Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer. Proceedings of the National Academy of Sciences. 2018l;115(18):4767-4772.El Jellas K., Dušátková P., Haldorsen I. S. et al. Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. J Clin Endocrinol Metab. 2022;107(4): e1455-e1466. doi: 10.1210/clinem/dgab864.El Jellas K., Dušátková P., Haldorsen I. S. et al. Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. J Clin Endocrinol Metab. 2022;107(4): e1455-e1466. doi: 10.1210/clinem/dgab864.O’Brien C.M., O’Brien A.C., Gleeson L., Conlon K., Feeney J., Malone D. E. Imaging of genetically-mediated pancreatitis. Clin Imaging. 2020;65:113-118. doi: 10.1016/j.clinimag.2020.04.005.O’Brien C.M., O’Brien A.C., Gleeson L., Conlon K., Feeney J., Malone D. E. Imaging of genetically-mediated pancreatitis. Clin Imaging. 2020;65:113-118. doi: 10.1016/j.clinimag.2020.04.005.Sharer N., Schwarz M., Malone G. et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339(10):645-652. doi: 10.1056/NEJM199809033391001.Sharer N., Schwarz M., Malone G. et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339(10):645-652. doi: 10.1056/NEJM199809033391001.Whitcomb D. C. Genetics of alcoholic and nonalcoholic pancreatitis. Current opinion in gastroenterology. 2012;28(5):501-506.Whitcomb D. C. Genetics of alcoholic and nonalcoholic pancreatitis. Current opinion in gastroenterology. 2012;28(5):501-506.da Costa M. Z. G. et al. Genetic risk for alcoholic chronic pancreatitis.International Journal of Environmental Research and Public Health. 2011;8(7):2747-2757.da Costa M. Z. G. et al. Genetic risk for alcoholic chronic pancreatitis.International Journal of Environmental Research and Public Health. 2011;8(7):2747-2757.COMFORT M. W., STEINBERG A. G. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology. 1952;21(1):54-63.COMFORT M. W., STEINBERG A. G. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology. 1952;21(1):54-63.Phadke M. Y., Sellers Z. M. Current clinical opinion on CFTR dysfunction and patient risk of pancreatitis: diagnostic and therapeutic considerations. Expert Review of Gastroenterology & Hepatology, 2022;16(6):499-509.doi: 10.1080/17474124.2022.2084072.Phadke M. Y., Sellers Z. M. Current clinical opinion on CFTR dysfunction and patient risk of pancreatitis: diagnostic and therapeutic considerations. Expert Review of Gastroenterology & Hepatology, 2022;16(6):499-509.doi: 10.1080/17474124.2022.2084072.

The authors declare that there are no conflicts of interest present.