Dziedziczne zapalenie trzustki u 5-letniej dziewczynki - opis przypadku

Hereditary pancreatitis is a rare disease with autosomal dominant inheritance. In 1996, Whitcomb et al. linked it to the mutation of the gene encoding cationic trypsinogen PRSS1. The onset of symptoms in children occurs at the age of about 10 years. In this work, a case of a 5-year-old girl with heterozygotic mutation p.R122 PRSS1 gene and family history of chronic pancreatitis in father is presented. The mother of the girl's father and his sister died of pancreatic cancer at the age of 37 and 50, respectively, and the father's brother suffers from chronic pancreatitis. Moreover, p.M470 V homozygotic mutation of the CFTR gene has been present in the girl. The patient has suffered from mild acute pancreatitis twice. The first episode was induced by Epstein-Barr virus and the second by a dietary error. Ultrasound study of the pancreas did not reveal any pathology. At present, the girl is well and does not report any ailments, sticks to the diet and is under medical control.