Genetic Prevalence and Characteristics in Children With Recurrent Pancreatitis

Abstract

We found a high prevalence of genetic mutations in patients without anatomic or metabolic abnormalities known to be associated with pancreatitis. Studies are needed to ascertain the genetic causes of RAP and CP and examine the relation between single CFTR mutations and single mutations in the PRSS1 and SPINK1 genes.

Predictors for mortality following acute pancreatitis in children

“…Although this finding has never been mentioned in previous reports and it is unclear whether there is a connection between hyperlipidemia and higher risk of death, we suggest that hyperlipidemia can be considered to be an independent etiology of the patients with AP in children. Besides, a high prevalence of genetic mutations (CFTR, SPINK1, PRRS1 mutations) was found in those patients without anatomic or metabolic abnormalities known to be associated with pancreatitis [29,30]. Since genetic tests are not routinely performed in the patients with idiopathic cause, it is unclear whether genetic mutation is another potential reason for the higher mortality rate of idiopathic cause.…”

Recurrent pancreatitis in ornithine transcarbamylase deficiency

“…Hereditary pancreatitis is one of the most common primary etiologies of chronic pancreatitis in children (prevalence 0.3/100,000) [9]. SPINK1, CFTR, and PRSS1 are associated genetic risk factors for hereditary pancreatitis [10].…”

Onüç yaşındaki çocukta geçici eozinofiliyle birlikte obstrüktif kronik pankreatit

“…Prevalence of chronic pancreatitis is difficult to detect and varies between 0.04% and 5% of the adult population (4,5). There are only limited data concerning the frequency of eosinophilia with chronic pancreatitis (6,7).…”