Copyright
©The Author(s) 2022.
World J Clin Pediatr. Jan 9, 2022; 11(1): 27-37
Published online Jan 9, 2022. doi: 10.5409/wjcp.v11.i1.27
Published online Jan 9, 2022. doi: 10.5409/wjcp.v11.i1.27
Table 1 Prominent pathogenic pancreatitis related gene variants
| Pathogenic gene (Variant) | Inheritance pattern | Mechanism of action |
| PRSS1 (R122H) | Autosomal dominant | Impaired autolysis of trypsin |
| PRSS1 (N29I) | Autosomal dominant | Increased autoactivation of trypsin |
| PRSS1 (A16V) | Autosomal dominant | Possible increase in trypsin activation |
| CFTR (R75Q) | Autosomal recessive | Impaired zymogen secretion |
| Disease modifiers | ||
| SPINK1 (N34S) | Autosomal recessive | Decreased trypsin inhibition |
| CTRC (A73T, V235I, R253W, K247_R254del) | Autosomal dominant or multigeneic | Impaired lysis of trypsin |
- Citation: Panchoo AV, VanNess GH, Rivera-Rivera E, Laborda TJ. Hereditary pancreatitis: An updated review in pediatrics. World J Clin Pediatr 2022; 11(1): 27-37
- URL: https://www.wjgnet.com/2219-2808/full/v11/i1/27.htm
- DOI: https://dx.doi.org/10.5409/wjcp.v11.i1.27