Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C
When the etiology of pancreatitis cannot be determined despite sufficient investigation, recurrence and progression to chronic pancreatitis often involve genetic mutations. Herein, we describe a case of recurrent pancreatitis with the IVS3+2T>C mutation in the serine protease inhibitor Kazal...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-01-01
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| Series: | Case Reports in Gastroenterology |
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| Online Access: | https://www.karger.com/Article/FullText/528768 |
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| author | Susumu Horitani Masahiro Tsujimae Arata Sakai Atsuhiro Masuda Kae Nagao Shinya Kohashi Noriko Inomata Hisahiro Uemura Shigeto Masuda Masanori Gonda Shohei Abe Kohei Yamakawa Shigeto Ashina Yasutaka Yamada Takeshi Tanaka Ryota Nakano Takashi Kobayashi Hideyuki Shiomi Yuzo Kodama |
| author_facet | Susumu Horitani Masahiro Tsujimae Arata Sakai Atsuhiro Masuda Kae Nagao Shinya Kohashi Noriko Inomata Hisahiro Uemura Shigeto Masuda Masanori Gonda Shohei Abe Kohei Yamakawa Shigeto Ashina Yasutaka Yamada Takeshi Tanaka Ryota Nakano Takashi Kobayashi Hideyuki Shiomi Yuzo Kodama |
| author_sort | Susumu Horitani |
| collection | DOAJ |
| description | When the etiology of pancreatitis cannot be determined despite sufficient investigation, recurrence and progression to chronic pancreatitis often involve genetic mutations. Herein, we describe a case of recurrent pancreatitis with the IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene that progressed to chronic pancreatitis in only 3 years. A 35-year-old man was referred to our hospital, where he was diagnosed with mild pancreatitis and was treated conservatively. However, the patient experienced recurrent episodes of pancreatitis, which progressed to become chronic pancreatitis with a pancreatic calcification 1 year later. After 3 years, the patient developed pancreatic duct stenosis and required a pancreatic duct stent placement. Regarding the cause of chronic pancreatitis, alcohol abuse was ruled out based on history taking. Considering the course of treatment, autoimmune pancreatitis and obstructive pancreatitis, such as pancreatic divisum, were also ruled out. Finally, a germline genetic test was performed to determine the etiology of pancreatitis, which revealed the IVS3+2T>C mutation in SPINK1. This case shows the importance of genetic testing in patients with idiopathic pancreatitis to determine their etiology and is a rare incident that can report the progression of the disease from acute to chronic pancreatitis. |
| first_indexed | 2024-04-10T07:42:27Z |
| format | Article |
| id | doaj.art-8f4ae9d3024d446e9355f7ee324b75a4 |
| institution | Directory Open Access Journal |
| issn | 1662-0631 |
| language | English |
| last_indexed | 2024-04-10T07:42:27Z |
| publishDate | 2023-01-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Gastroenterology |
| spelling | doaj.art-8f4ae9d3024d446e9355f7ee324b75a42023-02-23T11:31:01ZengKarger PublishersCase Reports in Gastroenterology1662-06312023-01-01171556110.1159/000528768528768Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>CSusumu Horitani0Masahiro Tsujimae1Arata Sakai2Atsuhiro Masuda3Kae Nagao4Shinya Kohashi5Noriko Inomata6Hisahiro Uemura7Shigeto Masuda8Masanori Gonda9Shohei Abe10Kohei Yamakawa11https://orcid.org/0000-0001-8239-9913Shigeto Ashina12Yasutaka Yamada13Takeshi Tanaka14Ryota Nakano15Takashi Kobayashi16https://orcid.org/0000-0002-9202-7643Hideyuki Shiomi17Yuzo Kodama18Division of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanDivision of Gastroenterology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, JapanWhen the etiology of pancreatitis cannot be determined despite sufficient investigation, recurrence and progression to chronic pancreatitis often involve genetic mutations. Herein, we describe a case of recurrent pancreatitis with the IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene that progressed to chronic pancreatitis in only 3 years. A 35-year-old man was referred to our hospital, where he was diagnosed with mild pancreatitis and was treated conservatively. However, the patient experienced recurrent episodes of pancreatitis, which progressed to become chronic pancreatitis with a pancreatic calcification 1 year later. After 3 years, the patient developed pancreatic duct stenosis and required a pancreatic duct stent placement. Regarding the cause of chronic pancreatitis, alcohol abuse was ruled out based on history taking. Considering the course of treatment, autoimmune pancreatitis and obstructive pancreatitis, such as pancreatic divisum, were also ruled out. Finally, a germline genetic test was performed to determine the etiology of pancreatitis, which revealed the IVS3+2T>C mutation in SPINK1. This case shows the importance of genetic testing in patients with idiopathic pancreatitis to determine their etiology and is a rare incident that can report the progression of the disease from acute to chronic pancreatitis.https://www.karger.com/Article/FullText/528768spink1 mutationchronic pancreatitisrecurrent pancreatitis |
| spellingShingle | Susumu Horitani Masahiro Tsujimae Arata Sakai Atsuhiro Masuda Kae Nagao Shinya Kohashi Noriko Inomata Hisahiro Uemura Shigeto Masuda Masanori Gonda Shohei Abe Kohei Yamakawa Shigeto Ashina Yasutaka Yamada Takeshi Tanaka Ryota Nakano Takashi Kobayashi Hideyuki Shiomi Yuzo Kodama Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C Case Reports in Gastroenterology spink1 mutation chronic pancreatitis recurrent pancreatitis |
| title | Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C |
| title_full | Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C |
| title_fullStr | Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C |
| title_full_unstemmed | Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C |
| title_short | Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C |
| title_sort | progression of recurrent pancreatitis to chronic pancreatitis within 3 years due to spink1 mutation ivs3 2t gt c |
| topic | spink1 mutation chronic pancreatitis recurrent pancreatitis |
| url | https://www.karger.com/Article/FullText/528768 |
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