Gross Duplication and Uncertain Significance: First Case Report of Hereditary Pancreatitis in a Female Ecuadorian Child

Hereditary pancreatitis is a type of chronic pancreatitis which is a rare autosomal dominant genetic disease. In Latin America just Venezuela, Brazil, and Chile reported cases of hereditary pancreatitis. The lack of data probably makes wrong the diagnosis in some patients. The aim of these study is to shown the presentation of the disease, family history related with chronic pancreatitis and diagnosis test. We reported a 9-year-old female patient with recurrent severe abdominal pain that begins at 8 years 8 month of age. She went through several hospitalizations [13], different laboratories test and many interventions such abdominal ultrasound, abdominal tomography, cholangioresonace and others. We made a correlation between the levels of amylase and lipase in every hospitalization. The genetic test performed shown a gross duplication of the genomic region encompassing the full coding sequence of the PRSS1 and two variants of uncertain significance PRSS1, Exon 3, c.389C.>T, (p. Thr130Ile), heterozygous; and PRSS1, Exon 3, c.398C>G (p. Pro133Arg), heterozygous are on the same chromosome (Ch37). Conclusion: This rare case of variant PRSS-1 mutation seen in this patient may explain the expressivity varied on the severity of the disease, the huge number of hospitalization and all the procedure that this patient had experimented. This case report is important to compare similar cases around the world, and should be the bases to understand the behavior, the beginning and the expression of the disease.