Archive for the 'Nonhereditary pancreatic conditions' Category

11 Jul

Genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions (Part 3)

From a practical standpoint, CFTR and PSTI genetic testing may be useful in selected individuals with unexplained pancreatitis. It can help patients to understand their disease, and it can allow earlier recognition of extra-pancreatic CFTR-related problems that may be associated with ICP (eg, male infertility). In addition, it can identify cystic fibrosis carriers who may […]

10 Jul

Genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions (Part 2)

The large increase in ICP risk strongly implicates defective CFTR function in the pathogenesis of ICP. At least 95% of CFTR compound heterozygotes, however, do not develop ICP. Thus, unlike cystic fibrosis lung disease, ICP exhibits non Mendelian (or complex) inheritance (Table 1). Virtually all individuals with two cystic fibrosis-causing mutations develop cystic fibrosis. In […]

08 Jul

Genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions (Part 1)

During the past few years, several groups have shown that the risk of nonhereditary pancreatitis is increased in those individuals who have mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) and of a trypsin inhibitor gene (PSTI, also known as the serine protease inhibitor, Kazal type 1 gene). The present article reviews the […]

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