Role of autophagy defects and significance of adherent-invasive <i>Escherichia coli</i> in Crohn's disease development

The aim of review. To present new data on a role of molecular genetic disorders of innate immunity at Crohn's disease (CD), and to demonstrate the role of adherent-invasive Escherichia coli (AIEC) as the microorganisms potentially involved in CD development.Summary. According to modern concept, etiology of CD has complex nature and is determined by genetic predisposition, infectious agents and environmental factors. Alteration of autophagy process (defects of NOD2/ CARD15, ATG16L1, IRGM genes) is one of genetically determined disorders of innate immunity typical for CD. Besides that intestinal dysbiotic disorders associated with elevation of quantity of microorganisms, possessing pathogenic potential, in particular AIEC is characteristic for CD. This phenotype of microorganisms has capacity of adhesion to mucosal epithelial cells, invasion, and active replication inside macrophages. In patients with genetic predisposition AIEC replication in macrophages at reduced clearance of microorganisms due to alteration of autophagy process can induce the unsound immune response with development inflammatory changes characteristic for CD.Conclusion. Intestinal dysbiosis associated with elevation of quantity of microorganisms, possessing pathogenic potential (AIEC), as well as genetically — determined defects of innate immunity (autophagy alteration) lay in a basis of up-to-date model of CD development. Undoubtedly, such model is most likely relevant only for selected part of CD patients, nevertheless for the present moment it is the basic for the further studying of CD etiopathogenesis

Gastroduodenal form of Crohn's disease

The aim of review. To highlight modern aspects of clinical presentation, diagnostics and treatment of gastroduodenal variant of Crohn's disease (GDCD).Key points. Gastroduodenal involvement at CD is a rare clinical variant of disease and develops in less than 5,5% of cases. By the present time association of GDCD with L1007P mutation of NOD2/CARD15 gene is detected. Epigastric pain, loss of body weight, nausea and — in some cases — vomiting are the most frequent symptoms of this pathology. Endoscopy of the stomach and duodenum with histological examination are the «gold» standard of GDCD diagnostics and quite often have crucial importance in the proof of diagnosis. In difficult cases test for antiSaccharomyces cerevisiae antibodies (ASCA) can be used as additional tool of differential diagnostics. Prescription of proton pump inhibitors in combination to system corticosteroids and azathioprine/6-mercaptopurine if required can be considered as the most successful therapy. Infliximab should be considered as alternati ve drug to other forms of treatment at nonresponding cases.Conclusion. No matter that GDCD is not the common form of disease, knowledge of the clinical variant is important for its duly recognition

Klatskin tumor (<i>Review of literature</i>)

The aim of review. Article reviews of cumulated literature data on the rare form of cholangiocarcinoma in bifurcation of hepatic ducts and named after Gerald Klatskin.Key points. Obstructive jaundice at the absence of abdominal pain is leading clinical symptom of this disease. The histological pattern is represented by adenocarcinoma of acinar, tubular, trabecular, alveolar or papillary types. Bismuth-Corlette classification, that allows more precise differentiation of hepatic ducts lesion localization, is presented; diagnostic methods are discussed in details.Conclusion. Difficulties of diagnosis and verification of Klatskin tumor determine a broad field for differential diagnostics. By virtue of low frequency disease represents a serious problem in assessment of cholestatic syndrome origin

Zollinger–Ellison syndrome: modern aspects of diagnostics and treatment

The aim of review. To reflect modern concepts on clinic, diagnostics and treatment of Zollinger–Ellison syndrome (ZES).Key points. ZES is rare disease related to intragastric hyperacidity. Phenomenon of hyperacidity in ZES patients is caused by hypergastrinemia associated with ectopic gastrin production. Disease frequently develops in patients with multiple endocrine neoplasia syndrome of the 1-st type. Clinical presentation of ZES directly reflects hypersecretion of hydrochloric acid with development of erosive — ulcerative lesions of esophagus, stomach and duodenum, resistant to standard dozes of proton pump inhibitors (PPI). One of basic methods of ZES diagnostics is assessment of serum gastrin level and intragastric acid production. Conservative treatment includes prescription of high PPI dozes, and octreotide analogues.Conclusion. ZES is not a common disease, anyhow knowledge of its clinical course is important for duly recognition. ZES should be considered at differential diagnostics in patients with frequently relapsing upper gastro-intestinal erosive-ulcerative lesions and in patients resistant to standard dozes of PPI

Difficulties of iron-deficiency anemia diagnostics

The aim of clinical case presentation. To illustrate difficulties of detection of sources of gastro-intestinal bleeding (GIB) at investigation of patient with severe chronic iron-deficiency anemia.Key points. At the moment of hospital admission in obvious cause of GIB has not been revealed. At complex investigation potential sources of blood loss were found out: hiatal hernia (HH) and diverticula of the large intestine. Pathology data in some cases are complicated both by overt clinical GIB, and microlosses. Presented case illustrates extremely high adaptive potential of female body to chronic blood loss - patient continued to work down to the moment of hospital admission. Definite feature of presented case is the dissociation between severity of anemia and absence of clinical symptoms of HH and diverticular disease.Conclusion. Presented case emphasizes exclusive importance of control of total blood count in women in postmenopausal period and necessity in prophylactic medical examination of patients

Present-day pathophysiological concept of functional dyspepsia

The aim of review. To present modern data on the pathophysiological mechanisms causing functional dyspepsia (FD) syndrome.Key points. Nowadays FD is considered to be a complex multifactor process which cause and effect relationships are under continuous active study. Disorders of stomach motility (delay of evacuation, disorders of relaxation accommodation) and sensitivity (visceral hypersensitivity to distention) are considered to be the basic pathophysiological mechanisms of FD. These changes develop approximately in 40% of FD patients. Besides that, alteration of duodenal sensitivity to hydrochloric acid and lipids can play significant role in genesis of FD.Conclusion. Mechanisms of FD are based on multiple heterogenous disorders of motor and sensitive functions of the stomach and duodenum. Due to major role of stomach motility disorders prokinetics are the priority drugs for treatment of FD

Prevalence of non-alcoholic fatty liver disease in out-patients of the Russian Federation: DIREG 2 study results

Aim of investigation. Primary objective: to estimate the prevalence of NAFLD within the general practitioner’s and gastroenterologist’s patient flow.Materials and methods. The prospective disease registry was carried out as epidemiologic, observational, cross-sectional, multicenter investigation to assess NAFLD prevalence at outpatient practice in the Russian Federation. A total of 50145 patients meeting the inclusion/exclusion criteria in 16 Russian cities were enrolled this study registry. Overall 1031 qualified doctors (GPs/therapists/gastroenterologists/pediatricians), providing outpatient care for the population, were study investigators. The epidemiological data were obtained andrecorded during two routine patient admissions to investigating centers. Acad. of the Russian Academy of science V.T. Ivashkin and Prof. O.M. Drapkina were national coordinators of the study.Results. The rate NAFLD cases within primary or secondary patients, who admitted the healthcare institutions for any reason, including those with suspected NAFLD was 37,3%. The main trend for non-cirrhotic non-alcoholic fatty liver disease (NANCFLD) prevalence was the progressive increase along with age from 2,90% in 12–17 y.o. patients to 42,96% in 60–69 y.o. patients. The highest prevalence of non-alcoholic steatosis (NAS) was 34,26% in patients aged 70–80. Non-alcoholic steatohepatitis (NASH) was most frequent in patients aged 50–59 (10,95%).Conclusion. Prevalence of NAFLD in outpatients in Russia increased from the year 2007 to 2015 and reached 37,3%. The high prevalence of NANCFLD was revealed in primary or secondary patients admitted healthcare institutions for any reason including those with suspected NAFLD (patients with obesity, type 2 diabetes mellitus, dyslipidemia, metabolic syndrome, hypertension, hypercholesterolemia)