Hereditary pancreatitis other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
==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> | ||
* | **''PRSS1'' | ||
* | **''CFTR'' | ||
** | **''SPINK1'' | ||
*** | **''CTRC'' | ||
*** | ====In Symptomatic patients:==== | ||
** | *Patients with any one of the following featires 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 ''PRSS1'' mutation.<ref name="pmid12120217" /><ref name="pmid17533082" /> | |||
*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== | ==References== | ||
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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
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.