Case Study: Genetic and In Silico Analysis of Familial Pancreatitis.

ABSTRACT:

Background/objectives

Chronic pancreatitis (CP) is a progressive inflammatory condition of the pancreas that leads to irreversible changes in pancreatic structure. The pancreatic α and β cells secrete hormones such as insulin and glucagon into the bloodstream. The pancreatic acinar cells secrete digestive enzymes that break down macromolecules. When these digestive enzymes do not function properly, maldigestion, malabsorption, and malnutrition may result. Presented here is a case study of an individual newly diagnosed with chronic pancreatitis, along with a genetic analysis of his son and an in-silico analysis of two of the variant proteins.

Methods

This study was conducted using human subjects, namely, the proband (father) and his son. Medical genetic testing of the proband

SUBMITTER: Sharma Y 

PROVIDER: S-EPMC12110861 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature