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

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

Published:2020-10-05 Issue: Volume: Page:
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Zdanowicz Katarzyna¹^ORCID,Uscinowicz Miroslawa¹,Rakowska Magdalena²,Wertheim-Tysarowska Katarzyna³,Rygiel Agnieszka Magdalena³,Oracz Grzegorz²,Lebensztejn Dariusz Marek¹

Affiliation:

1. Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland

2. Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland

3. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Abstract

AbstractChronic 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1717109.pdf

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