Open AccessACUTE PANCREATITIS AND LIVER CIRRHOSIS IN A CHILD WITH A «MILD GENOTYPE» OF CYSTIC FIBROSIS: AN ANALYSIS OF THE CLINICAL CASE
Author(s) -
A.V. Goryainova,
S.V. Belmer,
N. Kashirskaya,
S. Semykin
Publication year - 2019
Publication title -
rossijskij pediatričeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2413-2918
pISSN - 1560-9561
DOI - 10.18821/1560-9561-2018-21-3-188-192
Subject(s) - cystic fibrosis , cirrhosis , genotype , pancreatitis , medicine , gastroenterology , acute pancreatitis , pancreatic disease , mutation , pathology , gene , pancreas , biology , genetics
A rare clinical case of the development of acute pancreatitis in adolescents with a mixed form of cystic fibrosis having a “mild genotype” of the disease (“mild mutation” of the CFTR gene) and simultaneously the presence of cystic fibrosis-associated liver cirrhosis in this patient is described. Such a combination is extremely rare observed in cases with “mild” mutations in the CFTR gene.