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

Janaki Patel, Arina Madan, Amanda Gammon, Michael Sossenheimer, Niloy Jewel Samadder

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article number110
JournalPan African Medical Journal
Volume28
DOIs
StatePublished - Jan 1 2017

Keywords

  • Atypical presentation
  • Hereditary pancreatitis
  • Pancreatic malignancy
  • SPINK1 mutation

ASJC Scopus subject areas

  • Medicine(all)

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