Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations
The etiopathogenesis of tropical chronic pancreatitis (TCP) remains unclear. Malnutrition, dietary toxins like cyanogens in cassava and micronutrient deficiency are proposed factors. The description and characterization of genetic factors in TCP has added a new dimension to the understanding of pathogenesis of the disease. However, there is sparse data on the association of TCP with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We report 8 patients of TCP with CFTR gene mutations, including one with a novel mutation, and describe the clinical profile of these patients. Further prospective genetic studies on the association of CFTR gene mutations are essential in order to unravel the genetic basis of TCP.
KeywordsChronic pancreatitis Fibrocalculous pancreatic diabetes SPINK1 gene Tropical calcific pancreatitis
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- 5.Murugaian EE, Premkumar RM, Radhakrishnan L, Vallath B. Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India. Scand J Gastroenterol 2007;14:1–5.Google Scholar
- 7.Balakrishan V, Unnikrishnan AG, Thomas V, et al. Chronic pancreatitis: a prospective nationwide study of 1086 subjects from India. JOP 2008;9:593–600.Google Scholar
- 14.Witt H. Chronic pancreatitis and cystic fibrosis. Gut 2003;52(Suppl II):31–41.Google Scholar