Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to <i>SPINK1</i> Mutation IVS3+2T&gt;C

Author:

Horitani Susumu,Tsujimae Masahiro,Sakai Arata,Masuda Atsuhiro,Nagao Kae,Kohashi Shinya,Inomata Noriko,Uemura Hisahiro,Masuda Shigeto,Gonda Masanori,Abe Shohei,Yamakawa KoheiORCID,Ashina Shigeto,Yamada Yasutaka,Tanaka Takeshi,Nakano Ryota,Kobayashi TakashiORCID,Shiomi Hideyuki,Kodama Yuzo

Abstract

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&gt;C mutation in the serine protease inhibitor Kazal type 1 (<i>SPINK1</i>) 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&gt;C mutation in <i>SPINK1</i>. 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.

Publisher

S. Karger AG

Subject

Gastroenterology

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