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

Abstract

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.

Keywords

SPINK1 - pancreas divisum - children

Publikationsverlauf

Eingereicht: 14. Juli 2020

Angenommen: 21. August 2020

Artikel online veröffentlicht:
05. Oktober 2020

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