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.
Rajesh
G
G
Department of Gastroenterology, Amrita Institute of Medical Sciences, Ponekkara, Kerala, India.
Elango
E M
EM
Vidya
V
V
Balakrishnan
V
V
D000293:Adolescent; D000328:Adult; D002114:Calcinosis / Q000097:blood / Q000150:complications / Q000235:genetics*; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D002648:Child; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000097:blood / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D004247:DNA
Rev Endocr Metab Disord. 2008 Sep;9(3):213-26
18604651
BMC Med Genet. 2008 Aug 16;9:80
18706099
Indian J Gastroenterol. 2006 Mar-Apr;25(2):74-81
16763335
JOP. 2008 Sep 02;9(5):593-600
18762690
N Engl J Med. 1998 Sep 3;339(10):645-52
9725921
Gut. 2006 Sep;55(9):1270-5
16492714
Scand J Gastroenterol. 2008 Jan;43(1):117-21
18938753
Pancreas. 2004 May;28(4):374-9
15097853
Gut. 2003 May;52 Suppl 2:ii31-41
12651880
Am J Gastroenterol. 2000 Dec;95(12):3658-9
11151920
Gut. 2004 May;53(5):723-8
15082592
Lancet. 2008 Aug 2;372(9636):415-7
18675692
N Engl J Med. 1998 Sep 3;339(10):653-8
9725922
Clin Genet. 2007 Jun;71(6):530-9
17539902
J Cyst Fibros. 2008 Mar;7(2):110-5
17716958
Nat Genet. 2008 Jan;40(1):78-82
18059268
Gut. 2003 Aug;52(8):1159-64
12865275