Hereditary Pancreatitis
Pancreatitis is a condition that occurs when the pancreas becomes inflamed leading to a state of systemic inflammation. Hereditary pancreatitis is caused by repeated episodes of pancreas inflammation.
Overview
Pancreatitis is a condition that occurs when the pancreas becomes inflamed leading to a state of systemic inflammation. Hereditary pancreatitis is caused by repeated episodes of pancreas inflammation. 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 a permanent tissue damage and loss of pancreatic function.
Symptoms usually begin within the first two decades but can start at any time. It is due in part to an autosomal dominant gain-of-function disorder related to mutations of the cationic trypsinogen gene with an 80% penetrance. Mutations in this gene cause a premature activation of trypsinogen to trypsin. Most cases are inherited in an autosomal dominant manner or due to a de novo gene change.
The Igenomix Hereditary Pancreatitis Precision Panel can be used to make a directed and accurate differential diagnosis of acute pancreatitis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
The Igenomix Disorders of Sex Development Precision Panel is indicated for those patients with clinical suspicion of an intersex condition presenting with the following manifestations:
- Abdominal pain
- Nausea and vomiting
- Weight loss
- Diarrhea
- Flatulence and bloating
- Fat in stools
- Diabetes mellitus
- Fever
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for early preventative strategies, surgical care and pharmacologic treatment.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
Genes & Diseases
See all genes & diseases
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
CASR | Autosomal Dominant Hypocalcemia, Hereditary Chronic Pancreatitis, Hyperparathyroidism, Autosomal Dominant Neonatal Severe Primary Hypocalcemia, Familial Hypocalciuric Hypercalcemia, Neonatal Severe Primary Hyperparathyroidism | AD,AR | 100% | 445 of 446 |
CFTR | Bronchiectasis, Congenital Bilateral Absence Of Vas Deferens, Cystic Fibrosis, Hereditary Chronic Pancreatitis | AD,AR | 95.45% | 1615 of 1730 |
CLDN2 | Male Infertility, Inflammatory Bowel Disease | – | 99.94% | NA of NA |
CTRC | Hereditary Chronic Pancreatitis | AD | 100% | 46 of 46 |
PRSS1 | Hereditary Chronic Pancreatitis | AD | 100% | 52 of 55 |
PRSS2 | Hereditary Chronic Pancreatitis | AD | na | na |
SPINK1 | Hereditary Chronic Pancreatitis | AD,AR | 100% | 45 of 50 |
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
References
Raphael, K. L., & Willingham, F. F. (2016). Hereditary pancreatitis: current perspectives. Clinical and experimental gastroenterology, 9, 197–207. https://doi.org/10.2147/CEG.S84358
Hasan, A., Moscoso, D. I., & Kastrinos, F. (2018). The Role of Genetics in Pancreatitis. Gastrointestinal endoscopy clinics of North America, 28(4), 587–603. https://doi.org/10.1016/j.giec.2018.06.001
Howes, N., Lerch, M., Greenhalf, W., Stocken, D., Ellis, I., & Simon, P. et al. (2004). Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clinical Gastroenterology And Hepatology, 2(3), 252-261. doi: 10.1016/s1542-3565(04)00013-8
Joergensen, M., Brusgaard, K., Crüger, D., Gerdes, A., & de Muckadell, O. (2010). Genetic, Epidemiological, and Clinical Aspects of Hereditary Pancreatitis: A Population-Based Cohort Study in Denmark. American Journal Of Gastroenterology, 105(8), 1876-1883. doi: 10.1038/ajg.2010.193
Keiles, S., & Kammesheidt, A. (2006). Identification of CFTR, PRSS1, and SPINK1 Mutations in 381 Patients With Pancreatitis. Pancreas, 33(3), 221-227. doi: 10.1097/01.mpa.0000232014.94974.75
Solomon, S., & Whitcomb, D. (2012). Genetics of Pancreatitis: An Update for Clinicians and Genetic Counselors. Current Gastroenterology Reports, 14(2), 112-117. doi: 10.1007/s11894-012-0240-1
