Year: 2026 | Month: July | Volume: 16 | Issue: 7 | Pages: 21-28
DOI: https://doi.org/10.52403/ijhsr.20260703
Dual Genetic Etiologies in a Child Presenting with Acute Pancreatitis: Concurrent PRSS1 and SPTB Pathogenic Variants
Rajashekar V1, Akshaya Kumar B1, Senthil Priyan K2, Hema K1, Vignesh Kumar M1, Manikandan K1, Abishek Kumar Ashok Kumar3, Sahasyaa Adalarasan3, TS Santhi4
1Junior Resident, 2Assistant Professor, 3Medical Student, 4Professor,
Institute of Internal Medicine, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu, India.
Corresponding Author: Abishek Kumar Ashok Kumar
ABSTRACT
Hereditary pancreatitis is a rare genetic disorder most commonly associated with pathogenic PRSS1 variants, while hereditary spherocytosis is an inherited hemolytic anemia that may predispose to biliary pancreatitis through chronic hemolysis and pigment stone formation. We report a 13-year-old male who presented with acute pancreatitis. Initial findings suggested biliary pancreatitis secondary to hereditary spherocytosis. However, further evaluation with whole exome sequencing identified a likely pathogenic SPTB variant confirming hereditary spherocytosis and a pathogenic PRSS1 variant associated with hereditary pancreatitis. This case highlights the diagnostic challenge posed by the coexistence of two hereditary disorders capable of independently contributing to pancreatitis and underscores the value of genetic testing in pediatric patients with atypical or unexplained pancreatitis.
Key words: Hereditary pancreatitis; PRSS1; Hereditary spherocytosis; SPTB; Dual molecular diagnosis; Pediatric pancreatitis.