title: [Genetic mutations as a cause of acute recurrent pancreatitis in children - case report and literature review].
abstract: Acute recurrent pancreatitis is not common in children. The epidemiology, etiology and clinical presentation of pediatric acute recurrent pancreatitis are not well understood. The etiology is diverse and multifactorial, with many cases being idiopathic. The most common etiology of acute recurrent pancreatitis in children are genetic factors, biliary duct disorders, anatomic anomalies of the pancreatobiliary system and metabolic diseases. Mutations are most commonly found in the cationic trypsynogen gene (PRSS1), the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cystic fibrosis transmembrane conductance regulator gene (CFTR). The case described here is that of a 6-year-old boy, without a family history of pancreatitis, who was hospitalized several times over 5 years, with epigastric pain and high serum levels of amylase and lipase. Genetic testing showed a heterozygous variation, c.194+2T>C (IVS3+2T>C) in the SPINK1 gene and variation c.1210-34TG(11) T(5) (IVS8-5T+(TG)11) in the CFTR gene. Other etiological factors also occurred leading to the initiation and relapses of the disease.
authors.affiliation: II Katedra i Klinika Pediatrii, Gastroenterologii i Żywienia Uniwersytetu Medycznego im. Piastow Śląskich we Wrocławiu, e-mail: tatiana.jamer@gmail.com.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Jamer
authors.affiliation: II Katedra i Klinika Pediatrii, Gastroenterologii i Żywienia Uniwersytetu Medycznego im. Piastow Śląskich we Wrocławiu.
authors.forename: Barbara
authors.initials: B
authors.lastname: Iwańczak
mesh_terms: D000208:Acute Disease; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D006801:Humans; D008297:Male; D010195:Pancreatitis / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin
keywords: acute recurrent pancreatitis; children; etiology; genetic mutation