TY - JOUR
T1 - Rare hereditary cause of chronic pancreatitis in a young male
T2 - SPINK1 mutation
AU - Patel, Janaki
AU - Madan, Arina
AU - Gammon, Amanda
AU - Sossenheimer, Michael
AU - Samadder, Niloy Jewel
N1 - Publisher Copyright:
© Janaki Patel et al.
PY - 2017
Y1 - 2017
N2 - 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.
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.
KW - Atypical presentation
KW - Hereditary pancreatitis
KW - Pancreatic malignancy
KW - SPINK1 mutation
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U2 - 10.11604/pamj.2017.28.110.13854
DO - 10.11604/pamj.2017.28.110.13854
M3 - Article
C2 - 29515728
AN - SCOPUS:85032001263
SN - 1937-8688
VL - 28
JO - Pan African Medical Journal
JF - Pan African Medical Journal
M1 - 110
ER -