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Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation.

Abstract Hereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It presents as either chronic or recurrent acute pancreatitis. Symptom control and management of complications is important. Active surveillance with cross-sectional imaging for pancreatic malignancy in individuals with hereditary pancreatitis is advocated due to individuals being high risk. We present an unusual case of a young male who initially presented with renal colic and was incidentally diagnosed with severe chronic pancreatitis on abdominal imaging, with genetic testing confirming a homozygous SPINK1 mutation.
PMID
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Authors

Mayor MeshTerms
Keywords

Hereditary pancreatitis

SPINK1 mutation

atypical presentation

pancreatic malignancy

Journal Title the pan african medical journal
Publication Year Start




PMID- 29515728
OWN - NLM
STAT- MEDLINE
DCOM- 20180313
LR  - 20180313
IS  - 1937-8688 (Electronic)
VI  - 28
DP  - 2017
TI  - Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation.
PG  - 110
LID - 10.11604/pamj.2017.28.110.13854 [doi]
AB  - Hereditary chronic pancreatitis associated with a mutation in the serine protease
      inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation
      results in trypsinogen activation which predisposes to chronic pancreatitis
      predominately when combined with CFTR gene mutations. It presents as either
      chronic or recurrent acute pancreatitis. Symptom control and management of
      complications is important. Active surveillance with cross-sectional imaging for 
      pancreatic malignancy in individuals with hereditary pancreatitis is advocated
      due to individuals being high risk. We present an unusual case of a young male
      who initially presented with renal colic and was incidentally diagnosed with
      severe chronic pancreatitis on abdominal imaging, with genetic testing confirming
      a homozygous SPINK1 mutation.
FAU - Patel, Janaki
AU  - Patel J
AD  - Division of Gastroenterology, University of Utah, Salt Lake City, Utah, USA.
FAU - Madan, Arina
AU  - Madan A
AD  - University of Birmingham Medical School, Edgbaston, Birmingham, B15 2TT, UK.
FAU - Gammon, Amanda
AU  - Gammon A
AD  - Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
FAU - Sossenheimer, Michael
AU  - Sossenheimer M
AD  - Division of Gastroenterology, University of Utah, Salt Lake City, Utah, USA.
FAU - Samadder, Niloy Jewel
AU  - Samadder NJ
AD  - Division of Gastroenterology,Hepatology and Nutrition, University of Utah, Salt
      Lake City, Utah, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20171004
PL  - Uganda
TA  - Pan Afr Med J
JT  - The Pan African medical journal
JID - 101517926
RN  - 0 (SPINK1 protein, human)
RN  - 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic)
SB  - IM
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Humans
MH  - Incidental Findings
MH  - Male
MH  - Mutation
MH  - Pancreatitis, Chronic/diagnosis/*genetics
MH  - Renal Colic/*diagnosis
MH  - Trypsin Inhibitor, Kazal Pancreatic/*genetics
MH  - Young Adult
PMC - PMC5837166
OTO - NOTNLM
OT  - Hereditary pancreatitis
OT  - SPINK1 mutation
OT  - atypical presentation
OT  - pancreatic malignancy
EDAT- 2018/03/09 06:00
MHDA- 2018/03/14 06:00
CRDT- 2018/03/09 06:00
PHST- 2017/09/10 00:00 [received]
PHST- 2017/09/25 00:00 [accepted]
PHST- 2018/03/09 06:00 [entrez]
PHST- 2018/03/09 06:00 [pubmed]
PHST- 2018/03/14 06:00 [medline]
AID - 10.11604/pamj.2017.28.110.13854 [doi]
AID - PAMJ-28-110 [pii]
PST - epublish
SO  - Pan Afr Med J. 2017 Oct 4;28:110. doi: 10.11604/pamj.2017.28.110.13854.
      eCollection 2017.