Hereditary pancreatitis other diagnostic studies
|
Hereditary pancreatitis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Hereditary pancreatitis other diagnostic studies On the Web |
|
American Roentgen Ray Society Images of Hereditary pancreatitis other diagnostic studies |
|
Hereditary pancreatitis other diagnostic studies in the news |
|
Risk calculators and risk factors for Hereditary pancreatitis other diagnostic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Iqra Qamar M.D.[2]
Overview
Genetic testing is generally done for the following genes PRSS1, CFTR, SPINK1 and CTRC. Predictive testing is done only after expert genetic counseling and may be considered for patients who have a first-degree relative with a known PRSS1 mutation. Predictive testing is not done for patients below 16 yr age. Predictive testing is usually not recommended for patients with SPINK1 or CFTR mutations.
Other Diagnostic Studies
Genetic testing :
- Genetic testing and genetic counselling is recommended for patients with hereditary pancreatitis.[1]
- Patients with hereditary pancreatitis who require genetic testing need to be counselled before and after the genetic testing is done.[2][1][3]
- Genetic testing is generally done for the following genes:[4]
- PRSS1
- CFTR
- SPINK1
- CTRC
In Symptomatic patients:
- Patients with any one of the following featires should be considered for genetic testing:[2][5]
- A positive history of unexplained documented episode of pancreatitis in childhood
- Idiopathic chronic pancreatitis before 25yr age
- Family history of any mutations associated with hereditary pancreatitis
- Recurrent acute attacks of pancreatitis of unknown etiology
- A positive family history of any one of the following with an unknown etiology;
- Recurrent acute pancreatitis
- Idiopathic chronic pancreatitis
- Childhood pancreatitis
In Asymptomatic patients (Predictive testing):
- Predictive testing is done only after expert genetic counseling and may be considered for patients who have a first-degree relative with a known PRSS1 mutation.[5][2]
- Predictive testing is not done for patients below 16 yr age.
- Predictive testing is usually not recommended for patients with SPINK1 or CFTR mutations.
References
- ↑ 1.0 1.1 Kumar A, Ajilore O, Zhang A, Pham D, Elderkin-Thompson V (2014). "Cortical thinning in patients with late-life minor depression". Am J Geriatr Psychiatry. 22 (5): 459–64. doi:10.1016/j.jagp.2012.12.010. PMC 4497565. PMID 24636843.
- ↑ 2.0 2.1 2.2 Fink EN, Kant JA, Whitcomb DC (2007). "Genetic counseling for nonsyndromic pancreatitis". Gastroenterol. Clin. North Am. 36 (2): 325–33, ix. doi:10.1016/j.gtc.2007.03.007. PMID 17533082.
- ↑ Solomon S, Whitcomb DC (2012). "Genetics of pancreatitis: an update for clinicians and genetic counselors". Curr Gastroenterol Rep. 14 (2): 112–7. doi:10.1007/s11894-012-0240-1. PMC 5654383. PMID 22314809.
- ↑ Felderbauer P, Hoffmann P, Einwächter H, Bulut K, Ansorge N, Schmitz F, Schmidt WE (2003). "A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations". BMC Gastroenterol. 3: 34. doi:10.1186/1471-230X-3-34. PMC 317302. PMID 14641934.
- ↑ 5.0 5.1 Ellis I, Lerch MM, Whitcomb DC (2001). "Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues". Pancreatology. 1 (5): 405–15. PMID 12120217.