Hereditary pancreatitis other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
Genetic testing is generally done for the following genes ''[[PRSS16|PRSS1]], [[CFTR (gene)|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 years of age. Predictive testing is usually not recommended for patients with ''[[SPINK1]]'' or ''[[CFTR (gene)|CFTR]]'' mutations. | |||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
*[ | ===Genetic testing :=== | ||
**[ | *[[Genetic testing]] and [[genetic counselling]] is recommended for patients with [[hereditary pancreatitis]].<ref name="pmid24636843">{{cite journal |vauthors=Kumar A, Ajilore O, Zhang A, Pham D, Elderkin-Thompson V |title=Cortical thinning in patients with late-life minor depression |journal=Am J Geriatr Psychiatry |volume=22 |issue=5 |pages=459–64 |year=2014 |pmid=24636843 |pmc=4497565 |doi=10.1016/j.jagp.2012.12.010 |url=}}</ref> | ||
**[ | *Patients with [[hereditary pancreatitis]] who require genetic testing need to be counselled before and after the genetic testing is done.<ref name="pmid17533082">{{cite journal |vauthors=Fink EN, Kant JA, Whitcomb DC |title=Genetic counseling for nonsyndromic pancreatitis |journal=Gastroenterol. Clin. North Am. |volume=36 |issue=2 |pages=325–33, ix |year=2007 |pmid=17533082 |doi=10.1016/j.gtc.2007.03.007 |url=}}</ref><ref name="pmid24636843" /><ref name="pmid22314809">{{cite journal |vauthors=Solomon S, Whitcomb DC |title=Genetics of pancreatitis: an update for clinicians and genetic counselors |journal=Curr Gastroenterol Rep |volume=14 |issue=2 |pages=112–7 |year=2012 |pmid=22314809 |pmc=5654383 |doi=10.1007/s11894-012-0240-1 |url=}}</ref> | ||
**[ | *Genetic testing is generally done for the following genes:<ref name="pmid14641934">{{cite journal |vauthors=Felderbauer P, Hoffmann P, Einwächter H, Bulut K, Ansorge N, Schmitz F, Schmidt WE |title=A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations |journal=BMC Gastroenterol |volume=3 |issue= |pages=34 |year=2003 |pmid=14641934 |pmc=317302 |doi=10.1186/1471-230X-3-34 |url=}}</ref> | ||
* | **''[[PRSS16|PRSS1]]'' | ||
* | **''[[CFTR]]'' | ||
** | **''[[SPINK1]]'' | ||
*** | **''CTRC'' | ||
*** | ====In Symptomatic patients:==== | ||
**[ | *Patients with any one of the following features should be considered for genetic testing:<ref name="pmid17533082" /><ref name="pmid12120217">{{cite journal |vauthors=Ellis I, Lerch MM, Whitcomb DC |title=Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues |journal=Pancreatology |volume=1 |issue=5 |pages=405–15 |year=2001 |pmid=12120217 |doi= |url=}}</ref> | ||
***[ | **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 ''[[PRSS16|PRSS1]]'' mutation.<ref name="pmid12120217" /><ref name="pmid17533082" /> | |||
*Predictive testing is not done for patients below 16 years of age. | |||
*Predictive testing is usually not recommended for patients with ''[[SPINK1]]'' or ''[[CFTR (gene)|CFTR]]'' mutations. | |||
==References== | ==References== | ||
Latest revision as of 15:01, 31 January 2018
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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 years of 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]
In Symptomatic patients:
- Patients with any one of the following features 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 years of 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.