ABCMdb

PMID: 18076731

Felderbauer P, Karakas E, Fendrich V, Bulut K, Horn T, Lebert R, Holland-Letz T, Schmitz F, Bartsch D, Schmidt WE
Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibitor (N34S) and the cystic fibrosis gene.
Am J Gastroenterol. 2008 Feb;103(2):368-74. Epub 2007 Dec 12., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Arg553* One patient was transheterozygous (SPINK1: N34S/CFTR: R553X). Login to comment 65 ABCC7 p.Arg553* ABCC7 p.Arg553* Mutations Detected in the PRSS1, SPINK1, and CFTR Genes in 25 Patients With pHPT and Pancreatitis PRSS1 SPINK1 CFTR CFTR Patient N29I/R122H N34S Mutant Poly T 1 - # - - 7T/7T 2 - - F508del 9T/7T 3 - - - 7T/7T 4 - - - 7T/7T 5 - N34S - 7T/7T 6 - N34S - 7T/7T 7 - - - 9T/7T 8 - - - 7T/7T 9 - - ND* ND* 10 - - - 7T/7T 11 - - - 7T/7T 12 - - - 7T/5T 13 - - - 7T/7T 14 - - - 9T/7T 15 - - - 7T/7T 16 - N34S - 7T/7T 17 - - F508del 9T/7T 18 - - R553X 7T/7T 19 - - - 7T/7T 20 - - - 7T/7T 21 - N34S R553X 7T/7T 22 - - - ND* 23 - - - ND* 24 - - - ND* 25 - - - ND* * ND, not done due to absence of DNA. Login to comment 85 ABCC7 p.Arg553* Transheterozygous State of a Patient (SPINK1: N34S/CFTR: R553X) With pHPT and Pancreatitis The patient with a combination of both mutations had the first episode of pancreatitis at 18 yr and although a resection of the pancreatic head had been performed at 28, the abdominal symptoms persisted. Login to comment 116 ABCC7 p.Arg553* While 508F is the most common mutation, it was published that the R553X mutation, which, was identified in 2 of our 24 (8.3%) patients, is rare even in families with cystic fibrosis (~1.8%) (37). Login to comment 122 ABCC7 p.Arg553* The transheterozygous state (SPINK1: N34S/CFTR: R553X) in one patient, suffering from pHPT and pancreatitis at an early age, may indicate that a cumulation of genetic risk factors even increases the risk for pancreatitis. Login to comment