Validation of the TruBlue Light Laser for Laryngeal Somatosensory and Perturbation Testing.

Chronic pancreatitis (CP) represents the irreversible end stage of a diverse group of pancreatic disorders characterized by recurrent inflammation, progressive fibrosis, and exocrine and endocrine insufficiency. While environmental factors, such as alcohol and tobacco use, have long been implicated in its pathogenesis, a distinct subset of patients present with early-onset, recurrent pancreatitis in the absence of such exposures, indicative of a hereditary basis of the disease. Hereditary pancreatitis is a rare, autosomal dominant form of pancreatitis with a high rate of penetrance, typically manifesting during childhood or adolescence. The condition is characterized by recurrent acute attacks that progress over time to chronic pancreatic damage, diabetes, and an increased risk of pancreatic ductal adenocarcinoma. Since its first description in families with multiple affected members across generations, hereditary pancreatitis has been identified as a major cause of pancreatic inflammation. Whitcomb et al identified the first genetic risk factor of hereditary pancreatitis as a single-nucleotide polymorphism mutation within the gene on chromosome 7 of the human genome. The most common mutations are at positions R122H and N29I.
encodes cationic trypsinogen, and both gain-of-function and loss-of-function mutations lead to inappropriate intrapancreatic trypsin activation, initiating autodigestion and tissue injury. This mechanism has formed the foundation of the “trypsin-dependent pathway” model of pancreatitis. Other genes—including and —modulate disease expression, but variants (R122H and N29I) remain the most penetrant and studied. Other genetic variants within the region, such as the R122C and A16V, have also been reported to be associated with pathogenicity of hereditary pancreatitis.