Analysis of genetic mutation in pediatric idiopathic pancreatitis

Introduction:

While the role of genetic mutations in pediatric pancreatitis and pancreatic insufficiency is acknowledged, there is a lack of comprehensive understanding of the prevalence, spectrum, and functional significance of these mutations. Most of the available studies have been conducted in populations outside of India, and there is a need for data specific to the Indian subcontinent. Understanding the functional consequences of genetic mutations in pediatric pancreatitis and pancreatic insufficiency is crucial for elucidating disease mechanisms and identifying potential therapeutic targets. However, the specific impact of identified mutations on disease pathogenesis, severity, and treatment response in pediatric patients remains largely unexplored.

The limited understanding of genetic mutations in pediatric pancreatitis and pancreatic insufficiency hampers accurate diagnosis, risk stratification, and personalized treatment approaches. Diagnostic modalities for the detection of exocrine and endocrine pancreatic insufficiency need to be standardized, and management protocols, including the role of enzyme replacement therapies, need to be refined. Comprehensive knowledge of the genetic landscape could improve diagnostic algorithms, guide therapeutic interventions, and ultimately enhance clinical outcomes for affected children.

Hence a study is planned to contribute to the understanding of the genetic basis of pediatric pancreatitis and pancreatic insufficiency, with a specific focus on the Indian population. The research aims to identify the prevalence and spectrum of genetic mutations associated with these conditions, diagnose exocrine and endocrine insufficiency in affected children, explore demographic profiles and etiological factors, assess genotype-phenotype correlations, and identify potential therapeutic targets. By achieving these objectives, the study aims to improve the diagnosis, management, and prognosis of pediatric pancreatitis and pancreatic insufficiency.

Methods:

After the CTRI registration, children presenting with chronic or acute recurrent pancreatitis will be screened for eligibility. The eligible children would be recruited after obtaining consent and assent. Blood samples shall be sent to the hospital attached lab for fasting C peptide levels Glycosylated haemoglobin and shall be categorized as follows: 5.7 Normal, 5.7 to 6.5 Pre-diabetes, and more than 6.5: Diabetes. Stool samples shall be sent in all children for estimation of faecal elastase. Values less than 200 microgram/gram of stools shall be considered as exocrine insufficiency. Peripheral blood samples shall be sent to IISc as described below for analysis of genetic mutations.