ABCMdb

PMID: 18206817

Teich N, Mossner J
Hereditary chronic pancreatitis.
Best Pract Res Clin Gastroenterol. 2008;22(1):115-30. doi: 10.1016/j.bpg.2007.10.019., [PubMed]

Sentences

No. Mutations Sentence Comment

75 ABCC7 p.Ile148Thr Some authors state that compound heterozygous CFTR carriers have a distinct elevated risk for the development of chronic pancreatitis, which is even higher when an additional SPINK1 mutation is present.51,54 However, the role of some CFTR mutations has to be reconsidered since Rohlfs et al demonstrated that the mutation I148T in exon 4, which was classified as a severe cystic-fibrosis-causing mutation, is not associated with cystic fibrosis. Login to comment 76 ABCC7 p.Ile148Thr According to their data the complex allele 3199del6 and I148T seem to be the relevant factor.55 In summary, CFTR mutations alone are not sufficient for the pathogenesis of chronic pancreatitis in most patients, and further studies are needed to elucidate the role of CFTR in the pathogenesis of chronic pancreatitis. Login to comment