6690

SPINK1

PCTT|PSTI|Spink3|TATI|TCP;serine peptidase inhibitor, Kazal type 1;SPINK1;serine peptidase inhibitor, Kazal type 1

pancreatic secretory trypsin inhibitor|serine protease inhibitor Kazal-type 1|serine protease inhibitor, Kazal type 1|tumor-associated trypsin inhibitor

5q32

protein-coding

The purpose of this report is to describe a case of tropical calcific pancreatitis (TCP). This disease is specific to tropical regions and constitutesthe main cause of chronic pancreatitis in children worldwide. It can also be observed in young adults (2nd and 3rd decade). Shortage of dietary lipids duringchildhood has been implicated in the development of TCP and mutation of the SPINK1 gene has been cited as a predisposing genetic factor. The underlying pathophysiology of TCP is the same as chronic calcific pancreatitis (CCP) due toalcohol abuse. The main features are a sex ratio of 1, absence of alcohol consumption, occurrence of childhood diabetes in one third of cases, low incidence of acidoketosis, and presence of macro-calcifications especially in ducts. In 10% of cases TCP is complicated by pancreatic carcinoma occurring at an early age, located mainly in the body and tail of the pancreas, and having a less favorable prognosis than primary cancer. Treatment of patients with TCP is the same as for patients with CCP due to alcohol abuse. Prevention depends on improvement of nutritional status of the population.

Hereditary pancreatitis (HP) is an autosomal dominant inherited disease characterized by recurrent episodes of pancreatitis often beginning in childhood, a family history of at least 2 other affected members, and the absence of known etiologic factors. The discovery of mutations in cationic trypsinogen gene (PRSS1) in HP not only provided insights into the molecular mechanisms of pancreatitis, but also opened a new era in the field of chronic pancreatitis. The detection of mutations in serine protease inhibitor, Kazal type 1 (SPINK1) and CFTR in patients with hereditary or idiopathic chronic pancreatitis has placed the emphasis on the importance of genetic mutations in pancreatitis. Because theestimated cumulative risk of pancreatic cancer development in hereditary pancreatitis is nearly 40%, screening tests are important in selected cases. There are no specific medical therapies recommended in patients with HP. Registration of patients with Nationwise Registries is essential if management strategies are to be improved and genetic research to be continued.#FAU - Kim, Yong-Tae