Analysis of the most common mutations associated with pancreatitis (p.Asn29Ile and p.Arg122His of PRSS1, p.Asn34Ser of SPINK1 and p.Arg75Gln of CFTR)

Analysis of the most common mutations associated with pancreatitis (p.Asn29Ile and p.Arg122His of the PRSS1 gene, p.Asn34Ser of the SPINK1 gene, and p.Arg75Gln of the CFTR gene). - diagnosis of hereditary pancreatitis

clinical significance

Pancreatitis is a rare disease with a paroxysmal course with periods of exacerbation and remission. Exacerbations of the disease can often be linked to stress, alcohol abuse or fatty meals. In more than one-third of cases with early onset, the disease has a hereditary basis. In about 2/3 of them, the disease is caused by mutations in the cationic trypsinogen gene (PRSS1) on chromosome 7q35, whichóre causing premature activation of trypsinogen inside the pancreas. Alternative causes include: mutations of the pancreatic trypsin secretion inhibitor gene SPINK1 on chromosome 5q32, leading to loss of enzyme function, someóre mutations of the transmembrane conductance regulator (CFTR) gene on chromosome 7q31, associated with the pancreatic form of cystic fibrosis, and mutations of the chymotrypsin C (CTRC) gene on chromosome 1p36, whichóre reducing the efficiency of trypsin degradation. Dominant inheritance, incomplete penetrance (80%). Pancreatitis is a rare disease with a paroxysmal course with periods of exacerbation and remission. Disease exacerbations can often be linked to stress, alcohol abuse or fatty meals. In more than one-third of cases with early onset, the disease has a hereditary basis. In about 2/3 of them, the disease is caused by mutations in the cationic trypsinogen gene (PRSS1) on chromosome 7q35, whichóre causing premature activation of trypsinogen inside the pancreas. Alternative causes include: mutations of the pancreatic trypsin secretion inhibitor gene SPINK1 on chromosome 5q32, leading to loss of enzyme function, someóre mutations of the transmembrane conductance regulator (CFTR) gene on chromosome 7q31, associated with the pancreatic form of cystic fibrosis, and mutations of the chymotrypsin C (CTRC) gene on chromosome 1p36, whichóre reducing the efficiency of trypsin degradation. Dominant inheritance, incomplete penetrance (80%). The indication for the test is: - diagnosis of cases of pancreatitis in patients before the age of 35, especially recurrent or with the presence of pancreatic calcifications or a family history;- diagnosis of rów cases of pancreatitis;in pancreatitis or pancreatic insufficiency in childhood or adolescence, especially after exclusion of cystic fibrosis, type 1 hyperlipidemia, primary familial hyperparathyroidism, Pearson's myelodysplasia syndrome, autoimmune pancreatitis;- family testing: detection of PRSS1, SPINK1, CFTR or CTRC gene mutations in a relative in families with pancreatitis or pancreatic cancer.

Patient preparation

no special recommendations

Material: EDTA blood

Interventions

none