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The Evolution of Pancreatitis—from the Clinical Manifestations to Genetic Determinant
Author(s) -
Vasylieva Oksana
Publication year - 2019
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.2019.33.1_supplement.802.19
Subject(s) - medicine , gastroenterology , cystic fibrosis , pancreatitis , abdominal pain , inborn error of metabolism , vomiting , pathology , dermatology
In recent years the ideas about etiopathogenesis of pancreatitis have significantly changed. It was found that the development of pancreatitis may be one of the forms of gastrointestinal manifestations of hereditary pathology, accompanied by nausea, vomiting, diffuse abdominal pain, malabsorption and maldigestion. But the viewpoint at the lesion of the exocrine function of pancreas hasn't been yet established among health care professionals as a potential genetic problem, so diagnosis of genetically determined forms of pancreatitis remains mostly undeveloped. In Kharkiv medical‐genetic center we monitored 68 patients (3–46 y.o.) with manifestations of exocrine pancreatic insufficiency and pancreatitis symptoms, who underwent somatic genetic testing, pedigrees' analysis, abdominal ultrasound, biochemical blood and urine tests and confirming molecular diagnostics. According to the results of examination the presence of the following nosologic forms was diagnosed: cystic fibrosis ‐ in 35(4.22%) patients, Kearns‐Sayer syndrome ‐ 4(0.48%), MELAS ‐ 4(0.48%), MNGIE ‐ 3(0.36%), violation of fatty acid metabolism ‐ 5(0,6%), glutaric aciduria ‐ 3(0.36%), methylmalonic aciduria ‐ 2(0.24%), propionic aciduria ‐ 1(0.12%), maple syrup urine disease ‐ 2(0.24%), homocystinuria ‐ 5(0.6%), connective tissue dysplasia (CTD) ‐ 4(0.48%). The phenotypic characteristics of examined patients: the signs of CTD (hyperstretchability of skin, brittle hair and nails, caries, moderate joint hypermobility) ‐ in 64.7% and small developmental abnormalities (hypertelorism, short filter, dolichocephaly, deformed ears, clinodactyly etc.) ‐ in 58.8%, that probably reflects the teratogenic effect hereditary metabolic disorders in the embryogenesis process. In 23(33.8%) patients generalized aminoacidaemia was revealed; 22(32.4%) patients have primary mitochondrial insufficiency, 12(17.7%) ‐ the secondary. In accordance with the revealed changes an appropriate pathogenetic therapy has been appointed. The problem of the clinical and genetic characteristics of patients with symptoms of pancreatitis can be a key to understanding the mechanisms of pancreas pathology launch, which will increase the efficiency of diagnosis and treatment of gastrointestinal tract diseases. This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .