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Pancreatitis

 

Hereditary or idiopathic pancreatitis is a condition characterized by recurrent episodes of inflammation of the pancreas. The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.

A sudden attack can cause abdominal pain, fever, nausea, or vomiting. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Years of inflammation damage the pancreas, causing the formation of scar tissue in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool, weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus; the risk of developing diabetes increases with age. Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer.

We provide sequencing analysis for the genes that are associated with pancreatitis.

Type OMIM Gene Description
Hereditary pancreatitis (HPC) 167800 PRSS1 Mutations in this gene are the cause for 65-80% of cases of HPC. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released from the pancreas and transported to the small intestine, where it is cut into its working  form called trypsin. Mutations of PRSS1 can prevent this process from occurring.
Idopathic pancreatitis (ICP) 167800 CFTR An association has been found between CFTR gene mutations and idopathic chronic pancreatitis (ICP). CFTR specifies a widespread chloride channel and severe mutations cause classic CF. Different types of mutation causing different types of channel malfunction probably result in different diseases. CFTR is so large that only complete sequencing can tell which mutations may cause ICP. Mutations account for approxiately 20% of patients with ICP.
Hereditary pancreatitis (HPC) 167800 SPINK1 Pancreatic secretory trypsin inhibitor (PSTI) is a protein that in humans is encoded by the SPINK1 gene. SPINK1 acts as the first line of defense against prematurely activated trypsinogen in the acinar cells. Mutations causing loss of function have been linked to chronic pancreatitis. Mutations account for less than 10% of patients with HPC.

Chronic susceptibility to pancreatitis

167800 CTRC Mutations in the CTRC gene encoding the digestive enzyme chymotrypsin C have been shown to increase the risk of chronic pancreatitis. The CTRC gene encodes a protease that functions to prevent premature trypsinogen activation in the pancreas as well as promote trypsin, M. Loss-of-function mutations in CTRC predispose to pancreatitis. Mutations account for less than 5% of patients with ICP.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code K85.0--K85.9

Test Requisition: Sequencing Requisition

PRSS1 CPT Code: 81404 Cost: $620.00

CFTR CPT Code: 81223 Cost: $1430.00

SPINK1 CPT Code: 81404 Cost: $550.00

CTRC CPT Code: 81479 Cost: 770.00

Panel CPT Codes: 81404x2, 81223, 81479 Cost: $3370.00

Turn-around-time: 4-6 weeks for each test

Specimen Requirements

Shipping Information

References

1. Greer JB, Whitcomb DC. Inflammation and pancreatic cancer: an evidence-based review. Curr Opin Pharmacol. 2009 Aug;9(4):411-8.

2. Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct;33(3):221-7.

3. Solomon S, Whitcomb DC. Genetics of pancreatitis: an update for clinicians and genetic counselors. Curr Gastroenterol Rep. 2012 Apr;14(2):112-7.

4. Ooi CY, Dorfman R, Cipolli M, Gonska T, Castellani C, Keenan K, Freedman SD, Zielenski J, Berthiaume Y, Corey M, Schibli S, Tullis E, Durie PR. Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. Gastroenterology. 2011 Jan;140(1):153-61

5. Szmola R,  Sahin- Tóth M. Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: Identity with Rinderknecht's enzyme Y. PNS. 2007 May; 104(27): 11227–11232.

6. Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvári B, Landt O, et al. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet 2008; 40:78-82

7. Entrez Gene: SPINK1 serine peptidase inhibitor, Kazal type 1 Gene ID: 6690, updated on 22-Sep-2013.

8. Masson, E, Chen, J, Audrezet, M, Cooper, D, Ferec, C (2013). “A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients”. PloS ONE 8(8): e73522.


 

 



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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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