Journal
CUREUS JOURNAL OF MEDICAL SCIENCE
Volume 13, Issue 4, Pages -Publisher
SPRINGERNATURE
DOI: 10.7759/cureus.14427
Keywords
chronic pancreatitis; genetic mutation; pain abdomen; spink1 gene
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In our study, 50% of ICP cases had the SPINK1 N34S mutation. The SPINK1 mutants had a relatively more severe variety of pancreatitis compared to non-mutants. The male gender was more affected than females in the study population.
Background and aim Idiopathic chronic pancreatitis (ICP) is said to be present when no identifiable etiology can be identified. Robust evidence suggested that the serine protease inhibitor nucleus Kazol type 1 (SPINK1) N34S mutation was frequently associated with ICP. As there is a paucity of data on genetic studies in ICP cases from the coastal eastern region of India, we performed this study with an aim to evaluate the SPINK1 genetic mutations and other associated clinical correlates in ICP cases. Material and methods Consecutive ICP cases attending the department of gastroenterology, Institute of Medical Sciences (IMS) and SUM Hospital, were enrolled and evaluated for the pertinent clinical history and undergone detailed biochemical and radiological evaluations. Two ml of venous blood in ethylenediaminelelraacelic acid (EDTA) vials were collected from each case and subjected to a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test for genetic analysis. Result In this study, the mean age of the cases at the time of the first consultation with us and the age of the first clinical presentation were 34.5246.44 and 28.7345.52 years, respectively. Males outnumbered females (Male:Female - 2.12:1). Out of the total of 200 cases, 50% had no SPINK1 mutation, whereas 40% and 10% cases had SPINK I N34S heterozygous and homozygous mutations, respectively. The mean age of clinical presentation, severe abdominal pain, exocrine and endocrine insufficiency, and parenchymal atrophy were significantly more common in mutants as compared to non-mutants (p-value <0.05). Conclusion In our region, 50% of ICP cases had the SPINK1 N34S mutation. The SPINK1 mutants had a relatively more severe variety of pancreatitis as compared to non-mutants.
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