title: Genetic and phenotypic heterogeneity in tropical calcific pancreatitis.
abstract: Tropical calcific pancreatitis (TCP) is a form of chronic non-alcoholic pancreatitis initially reported in the developing parts of the tropical world. The clinical phenotype of TCP has undergone marked changes since its first description in 1968. The disease is now seen in relatively older people with less severe symptoms. In addition, there are varying reports on the proportion of cases presenting with imaging abnormalities like calcification, ductal dilation, and glandular atrophy. Significant progress has also been made in understanding the etiopathology of TCP. The role of malnutrition and cassava toxicity in its pathogenesis is disproven and few studies have focused on the role of micronutrient deficiency and oxidative stress in the etiopathogenesis of TCP. Emerging evidence support an important role for genetic risk factors in TCP. Several studies have shown that, rather than mutations in trypsinogens, variants in serine protease inhibitor kazal type 1, cathepsin B, chymotrypsin C, cystic fibrosis transmembrane regulator, and carboxypeptidase A1, predict risk of TCP. These studies also provided evidence of mutational heterogeneity between TCP and chronic pancreatitis in Western populations. The current review summarizes recent advances that have implications in the understanding of the pathophysiology and thus, heterogeneity in genotype-phenotype correlations in TCP.
authors.affiliation: Sumit Paliwal, Seema Bhaskar, Giriraj R Chandak, CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad 500007, India.
authors.forename: Sumit
authors.initials: S
authors.lastname: Paliwal
authors.affiliation: Sumit Paliwal, Seema Bhaskar, Giriraj R Chandak, CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad 500007, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Bhaskar
authors.affiliation: Sumit Paliwal, Seema Bhaskar, Giriraj R Chandak, CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad 500007, India.
authors.forename: Giriraj R
authors.initials: GR
authors.lastname: Chandak
mesh_terms: D002114:Calcinosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors
chemical_list: D005819:Genetic Markers
keywords: Chronic pancreatitis; Clinical phenotype; Fibrocalculous pancreatic diabetes; Genetic risk factors; Tropical calcific pancreatitis