Pancreatitis Risk in Primary Hyperparathyroidism: Relation to Mutations in the SPINK1 Trypsin Inhibitor (N34S) and the Cystic Fibrosis Gene

• DOI: 10.1111/j.1572-0241.2007.01695.x
• Publication Date: 2008-02-13T06:04:39Z
• Authors: Peter Felderbauer; Elias Karakas; Volker Fendrich; Kerem Bulut; Tilman Horn; Rainer Lebert; Tim Holland-Letz; Frank Schmitz; Detlef Bartsch; Wolfgang E. Schmidt
• Keywords: Pancreatic Disease

OBJECTIVE Primary hyperparathyroidism (pHPT)-related hypercalcemia is considered to represent a risk factor for the development of pancreatitis. We therefore explored whether mutations in genes that were previously identified increase pancreatitis coexist cohort 826 patients with pHPT prospectively studied between 1987 and 2002. METHODS Among pHPT, 38 (4.6%). DNA was available from 25 (13 women/12 men, 16 acute pancreatitis/9 chronic pancreatitis). These individuals 50 without analyzed serine protease inhibitor Kazal type I (SPINK1) gene (N34S) cationic trypsinogen (PRSS1) (N29I, R122H) by melting curve analysis sequencing. Sequence cystic fibrosis transmembrane conductance regulator (CFTR) carried out detection 36 Tn polymorphism. RESULTS Four N34S missense mutation SPINK1 (16%), while all controls (pHPT pancreatitis) showed no or PRSS1 (P < 0.05 vs controls, P 0.001 general population). CF-causing CFTR present four population), one patient 5T allele. One transheterozygous (SPINK1: N34S/CFTR: R553X). Mean serum calcium levels (3.1 mmol/L) did not differ significantly mean entire (3.0 mmol/L). CONCLUSION Pancreatitis approximately 10-fold elevated but occurs infrequently. This indicates an existing minor impact pHPT-related hypercalcemia. If occurs, it seems associated genetic factors such as genes. In contrast, combination both variants increases develop pHPT.