Login / Signup

Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.

Katarzyna ZdanowiczMiroslawa UscinowiczMagdalena RakowskaKatarzyna Wertheim-TysarowskaAgnieszka Magdalena RygielGrzegorz OraczDariusz Marek Lebensztejn
Published in: Journal of pediatric genetics (2020)
Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 + 2T > C in serine protease inhibitor, Kazal type 1 ( SPINK1 ) and pancreas divisum.
Keyphrases
  • case report
  • young adults
  • mental health
  • protein kinase