[Clinical case of combined genetic pathology in a patient].

Family hypercholesterolemia (HSX) is a form of genetically deterministic increase in blood lipid levels associated with a high risk of cardiovascular disease, usually at a young age. HSX is a common genetic disease found in the general population in most countries in 1:500 people. Clinically xantomas are found in achilles tendor and wrist flexors, lipoid arc of the cornea, concentration of total cholesterol and low-density lipoproteins is 4.911.6 mmol/l. Gilberts syndrome is a hereditary benign hyperbilirubinium, associated with a decrease in the functional activity of the liver enzyme uridinfosfat-glucuronosil transferase. Clinically, this syndrome appers in intermittent jaundice, which is provoked by physical activity, consumption of alcoholic beverages, insulation and an increase in the level of indirect bilirubin within 20100 micromol/ml. The article presents a rare clinical case of genetic combination of HSC SSC and Gilbert syndrome a young patient has and discusses the elevated bilirubin levels protective role in the atherosclerosis progression in Gilbert syndrome.

[Myocardial Contractile Function in Patients with Liver Cirrhosis and Syndrome of Bacterial Overgrowth Syndrome].

OBJECTIVE: to study myocardial contractile function in patients with liver cirrhosis and ascites in the presence of bacterial overgrowth syndrome (BOS) and pathological bacterial translocation. MATERIALS AND METHODS: We included in this study 59 patients with Child-Pugh class B and C liver cirrhosis (LC) of various etiology and ascites. Control group comprised 12 patients with ischemic heart disease complicated by chronic heart failure (CHF). Examination included history taking and laboratory and instrumental investigation. LC was diagnosed basing on clinical symptoms and instrumental studies. Child-Pugh and MELD scores were used for assessment of LC severity and prognosis. International ascites club grading system was used for evaluation of severity of ascites. Hydrogen breath test was applied for diagnosing BOS. Syndrome of pathological bacterial translocation was established based on blood levels of lipopolysaccharide-binding protein and detection of bacterial DNA in ascitic fluid. Structural-functional parameters of the myocardium and hemodynamics were assessed by echocardiography. Brain natriuretic peptide (BNP) concentration was measured in blood serum and ascitic fluid. RESULTS: In 13 of 59 patients with LC the hydrogen breath test was negative, in 33 positive and in 13 patients the positive hydrogen test was combined with the presence of BOS and pathological bacterial translocation. Blood serum and ascitic fluid BNP concentrations in LC patients were low and within normal limits (62.5±4.1 and 53.3±4.9 rg / ml, respectively), what contrasted with high BNP concentrations in patients with CHF (1820±95.5 and 497.1±39.6 rg / ml, respectively). Total protein level in ascitic fluid also was significantly lower in patients with LC than in patients with CHF (1.77±0.1 and 4.43±0.35 mg / dL, respectively). The serum-ascitic albumin gradient (SAAG) in both groups of patients exceeded 1.1 (1.58±0.13 in patients with CHF and 1.88±0.19 in patients with LC). Conclusions. In patients with liver cirrhosis the presence of BOS and bacterial translocation did not produce a distinct negative impact on contractile function.