Indian Journal of Gastroenterology

, Volume 28, Issue 2, pp 68–71 | Cite as

Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations

  • G. Rajesh
  • E. M. Elango
  • V. Vidya
  • V. Balakrishnan
Case Series

Abstract

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.

Keywords

Chronic pancreatitis Fibrocalculous pancreatic diabetes SPINK1 gene Tropical calcific pancreatitis 

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Copyright information

© Indian Society of Gastroenterology 2009

Authors and Affiliations

  • G. Rajesh
    • 1
  • E. M. Elango
    • 2
  • V. Vidya
    • 1
  • V. Balakrishnan
    • 1
  1. 1.Department of GastroenterologyAmrita Institute of Medical SciencesCochinIndia
  2. 2.Department of Molecular BiologyAmrita Institute of Medical SciencesCochinIndia

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