No 3 (2024)
EXPERIMENTAL GASTROENTEROLOGY
A. A. Gizatullina,
Ya. V. Valova,
D. A. Smolyankin,
D. O. Karimov,
N. Yu. Khusnutdinova,
E. F. Repina
97-107 146
Abstract
Background: Heavy metals could be considered one of the factors determining the development of man and society, but their spread entails the danger of environmental pollution, which can affect the health of society itself. The aim of the study: The aim of the study was to study the effect of cadmium chloride on the liver of rats by assessing changes in biochemical parameters in blood serum and determining the expression level of Mt1a and Mt2a genes after exposure to a toxicant for three months and remission lasting one month. Materials and methods: 40 individuals of white outbred rats were selected by random sampling from the general laboratory population, taking into account the sex ratio of 1:1. Then the animals were distributed into 5 males and 5 females, respectively, into four groups. Individuals of the three experimental groups were orally administered an aqueous solution of CdCl2 daily for three months at concentrations of 1, 10 and 100 micrograms/kg. Results: According to the results of the analysis of the expression of Mt1a and Mt2a genes in liver tissue in response to the daily intake of cadmium in these concentrations during the experiment, statistically significant differences between the study groups were revealed. The differences between the levels of AST, LDH and total protein in the blood serum of the control and experimental groups also turned out to be statistically significant. Conclusion: The study demonstrates the relationship between the dosages of cadmium obtained by experimental animals for three months with one month of remission and an increase in the expression of Mt1a and Mt2a metallothionein genes in the liver, as well as with changes in some biochemical parameters compared with the control group. The results of numerous studies in this field complement each other and form a reliable information base for the prevention and treatment of toxic poisoning with cadmium compounds.
LEADING ARTICLE
A. A. Khalashte,
E. A. Lyalyukova,
S. K. Zhachemuk,
Ya. A. Goncharov,
S. I. Rakhmanova,
G. N. Zhernakova
5-13 421
Abstract
Relevance. Nonalcoholic fatty liver disease (NAFLD) holds a leading position among the causes of diffuse liver diseases, both in Russia and globally. Moreover, there is a persistent trend of increasing prevalence, especially among patients with metabolic risk factors. The Purpose of the Study: To assess the frequency of detecting fatty liver disease associated with metabolic syndromes in the Republic of Adygea and elucidate the characteristics of disease phenotypes across different age groups. Materials and methods. At stage I, 412 patients aged 18-89 years (45.4% male, 54.6% female) who visited outpatient clinics of therapeutic profile were examined. The average age of the patients was 57.0 ± 15.1 years. At stage II, the study was continued with patients diagnosed with NAFLD. Inclusion criteria for the study were: age 18 years and older, presence of fatty liver disease associated with metabolic conditions. The study continued with 191 patients diagnosed with metabolic associated fatty liver disease (MAFLD) (42.4% male, 57.6% female). The average age of the patients was 60.0 ± 12.4 years. Exclusion criteria from the study were: acute inflammatory diseases or exacerbation of chronic diseases during the study period, presence of viral hepatitis, alcoholic liver disease, autoimmune liver diseases, pregnancy, lactation, and use of medications or narcotics. The diagnosis of fatty liver disease was established in accordance with the recommendations of the Scientific Society of Gastroenterologists of Russia (2021) and the Russian Gastroenterological Association (2022). The diagnosis of metabolic-associated fatty liver disease (MAFLD) was based on visual evidence of hepatic fat accumulation (steatosis) obtained through ultrasonography, accompanied by one of the following criteria: excess body weight or obesity, type 2 diabetes mellitus, and/or signs of metabolic changes, defined as the presence of at least two of the following criteria: MS1 - waist circumference (WC) ≥102 cm in men and ≥88 cm in women; MS2 - body mass index (BMI) ≥25 kg/m²; MS3 - prediabetes (impaired fasting glycemia), homeostatic model assessment of insulin resistance (HOMA-IR) index ≥2.5; MS4 - presence of type 2 diabetes mellitus (T2DM); MS5 - blood pressure ≥130/85 mmHg or the patient receiving specific pharmacological treatment; MS6 (serum C-reactive protein >2 mg/L); MS7 - presence of dyslipidemia or the patient receiving specific pharmacological treatment. Patients were divided into age groups as follows: 18-44 years - young age (Group I); 45-59 years - middle age (Group II); 60-74 years - elderly age (Group III); 75-89 years - old age (Group IV). The study was approved by the Ethics Committee of the Federal State Budgetary Educational Institution “Maykop State Technological University, Medical Institute”. Results. The frequency of detection of fatty liver disease associated with metabolic syndromes in the Republic of Adygea, according to population screening data, was 46.4% (n=191). Out of 191 patients with ultrasound-detected evidence of steatosis, one in every fourth patient (25.1%, n=48) had deviations in liver test parameters from the reference values (laboratory signs of steatohepatitis). There were an average of 4.6±1.0 syndromes per patient in the age group 18-44 years. In the age group of 45-59 years, the average was 4.7 ± 1.1 syndromes, in the age group of 60-74 years, it was 5.0 ± 0.9, and in the age group of 75-89 years, it was 4.8 ± 1.0 syndromes, without statistical differences between the groups. In the age group of 18-44 years, the highest proportion was represented by lipid metabolism disorders (77.8%) and impaired glucose tolerance, HOMA-IR >2.5 (38.9%). In the age groups of 45-59 years and 60-74 years, the highest proportion was represented by type 2 diabetes mellitus (80.3% and 98.9%, respectively) and arterial hypertension (83.6% and 91.6%, respectively). In the age group of 75-89 years, the highest proportion was represented by type 2 diabetes mellitus (100%), elevated levels of serum C-reactive protein (58.8%) (indicating systemic inflammation), and chronic kidney disease (100%). The identified associations suggest the presence of specific age-related disease phenotypes, necessitating an appropriate volume of preventive measures and targeted therapy.
CLINICAL GASTROENTEROLOGY
14-24 241
Abstract
Among dental pathologies, periodontal diseases occupy the 2nd place in prevalence after caries. The prevalence of non-alcoholic fatty liver disease (NAFLD) in the general population in the world reaches 33.0% and is detected in all age categories. The presence of common risk factors suggests an indirect interaction between periodontitis and NAFLD, but the question of the possibility of direct interaction without the participation of “intermediaries” is relevant. The review examines the bidirectional relationship between periodontal pathology and NAFLD. The results of experimental and clinical studies indicate that periodontal bacteria, especially Porphyromonas gingivalis, correlate with the development of NAFLD. P. gingivalis has been detected in the liver, and LPS from this bacterium has been shown to be involved in the progression of NAFLD, suggesting a possible direct role of P. gingivalis in NAFLD. In addition, P. gingivalis causes disruption of the intestinal microbiocenosis, which contributes to the progression of NAFLD. There are two possible routes connecting the oral cavity and the liver - hematogenous and enteral diffusion of hepatotoxic components. The emerging concept of changes in the oral microbiota associated with periodontitis is closely related to the role of the mouth-gut-liver axis in the pathogenesis of NAFLD, based on the close relationship between the gut and liver connected by the enterohepatic circulation.
25-32 393
Abstract
With the growing obesity epidemic around the world, metabolic associated fatty liver disease (MAFLD), formerly called non-alcoholic fatty liver disease (NAFLD), has become a common cause of liver disease, including in older age groups, the incidence of which is increasing significantly due to significant social change economic development and improvements in health care over recent years. While NAFLD primarily focuses on the accumulation of fat in the liver, MAFLD considers both the presence of fatty tissue in the liver and associated metabolic risk factors such as diabetes mellitus, dyslipidemia or obesity, providing a more detailed approach to diagnosis and treatment of steatotic liver disease. Thus, the introduction of the term MAFLD reflects a more comprehensive approach to encompass the diverse spectrum of patients affected by this disease and recognizes the complex relationship between metabolic disorders and liver health. Age-associated structural changes can significantly affect the morphology, physiology and oxidative capacity of the liver. With age, the weight of the liver decreases, the functionality of liver cells decreases, leading to a decrease in the rate of protein synthesis, its participation in fat, carbohydrate, pigment, water-electrolyte metabolism decreases, detoxification function and vitamin synthesis are inhibited. That is, the involutive effect on the structure and functional activity of the liver during the aging process, the presence of comorbidity and features of structural and functional changes in MAFLD in elderly people require a special approach in choosing tactics for managing this group of patients. The review article examines data from scientific studies on the prevalence and diagnosis of MAFLD, taking into account involutive changes in the liver in elderly people.
S. K. Zhachemuk,
E. A. Lyalyukova,
E. N. Chernishova,
Ya. A. Goncharov,
S. I. Rakhmanova,
G. N. Zhernakova
33-49 150
Abstract
There are few data in the literature on the state of portal and hepatic blood flow in patients with fatty liver disease, and portal hemodynamics at the pre-cirrhotic stage is practically not covered. The aim of the study was to study the features of portal hemodynamics in patients with fatty liver disease at the pre-cirrhotic stage. Materials and methods. The study included 43 patients (25 - patients with fatty liver disease and 18- a comparison group who applied to outpatient clinics of therapeutic profile aged 18-89 years (41.9% of men, 58.1% of women). The average age of the patients was 45.1± 19.4 years. Criteria for inclusion in the study: age 18 years and older; presence of fatty liver disease associated with metabolic conditions. Criteria for not being included in the study: the presence of viral hepatitis, alcoholic liver disease, autoimmune liver diseases, pregnancy, lactation, taking any medications, narcotic drugs, the presence of acute or exacerbation of chronic diseases. The anthropometric indicators of patients were evaluated: waist circumference (OT), body mass index (BMI), steatotic indices (St-index, Fatty Liver Index), liver fibrosis index (Fib 4). Portal hemodynamics was assessed using ultrasound Dopplerography on a Philips Affiniti 50 device. Sensor C5-1. The following criteria were evaluated: vessel diameter (mm), its cross-sectional area (PPP, cm2), time-averaged maximum velocity (TAMX, cm/s), time-averaged average blood flow velocity (TAV, cm/s), Doppler perfusion index was calculated using the formula: V vol SPA / V vol SPA + V vol BB), the stagnation index was calculated using the formula: PPP/TAV. The results obtained. In patients with fatty liver disease, structural and hemodynamic shifts in the portal blood flow system are recorded: an increase in the diameter of the portal and inferior vena cava, a larger cross-sectional area, a low time-averaged maximum blood flow velocity and time-averaged average blood flow velocity, an increase in the stagnation index for these vessels, which reflects the process of remodeling the liver as a target organ in fatty liver disease and its vascular bed, forming a “stagnant liver”. Patients have lower values of the time-averaged average blood flow rate through the splenic vein, which indicates the initiation of collateral blood flow. Portal hemodynamics indicators correlate with metabolic parameters (anthropometric characteristics of patients (OT, BMI), steatotic indices (St index, FLI), but not with the liver fibrosis index (Fib 4). These hemodynamic features at the pre-cirrhotic stage of the disease, correlating with the severity of metabolic disorders, exacerbate structural changes in the liver and necessitate their correction in patients with fatty liver disease.
50-56 322
Abstract
The aim. To evaluate the dynamics of metabolic status, functional state of the liver and endothelium in patients with metabolic syndrome on the background of menopausal hormone therapy (MGT). Materials and methods. 40 menopausal women were examined, of which 25 patients with metabolic syndrome with an average age of 51.2 ± 1.2 years and 15 practically healthy women of 50.2 ± 1.9 years. anamnesis was collected, the presence of vasomotor symptoms was assessed, anthropometric data was measured with the calculation of body mass index, laboratory examination, including determination of blood levels of sex hormones, functional liver tests, metabolic parameters and markers of endothelial dysfunction- endothelin-1, vascular endothelial growth factor, the number of desquamated endotheliocytes and the activity of Willebrand factor, instrumental examination, including ultrasound examination of the liver and assessment of the vascular response to local heating on the Microtest device (Russia), as well as calculation of the Hepatic steatosis index (HSI). Results. In patients with metabolic syndrome in menopause, vasomotor symptoms, complaints of dysuria, dyspeptic phenomena were observed, an increase in blood pressure was recorded in 60%, an increase in Kurlov’s ordinates in 24%, 36% were overweight, 64% were obese 1-2 degrees. According to ultrasound, liver steatosis was verified in 76% of patients, the HSI index >36.0 was in all women with MS. Against the background of estrogen deficiency, the course of menopause in women was accompanied by insulin resistance, dyslipidemia, increased alkaline phosphatase levels in 28% of individuals and endothelial dysfunction with impaired physiological response to local heating, increased vascular tone, increased thrombogenic potential of the vascular wall and activation of angiogenesis mechanisms. Conclusion: MGT with Femoston ® 1 in continuous mode in women with metabolic syndrome reduces the severity of menopausal syndrome, insulin resistance and liver steatosis, improves anthropometric parameters and functional characteristics of the liver and endothelium, which reduces the risk of cardiovascular events in this risk group.
57-64 147
Abstract
The purpose of the work is to diagnose the early stage of cholelithiasis through a comprehensive study of bile in patients with NAFLD. Materials and methods. We examined 210 patients with NAFLD at the steatosis stage. The diagnosis was confirmed based on general clinical indicators, ultrasound and liver elastography data, and assessment of blood enzyme levels. All patients underwent ultrasound examination of the gallbladder, study of the microscopic and physicochemical properties of bile (specific gravity, acidity, surface tension, viscosity, lithogenicity indices, cholesterol content, bile acids, phospholipids) obtained as a result of multifractional duodenal intubation, and crystallography. Results: Ultrasound examination revealed biliary sludge in 72% of patients. Microscopic examination of bile revealed crystals of cholesterol and calcium bilirubinate in 75.4% of patients. Biochemical analysis of bile revealed significant changes, expressed in increased cholesterol, decreased bile acids, phospholipids, cholate-cholesterol and phospholipid-cholesterol ratios. A study of the physical properties revealed thickening of bile and an increase in its viscosity. Crystallography revealed elements with high optical activity, which became the basis for the formation of gallstones. Conclusions: In patients in the steatosis stage of NAFLD, a decrease in lithogenicity indices, an increase in acidity and thickening of bile are determined, indicating the tendency of bile to stone formation. Signs of biliary sludge (putty-like bile, microlithiasis), characteristic of stage I cholelithiasis, are detected by ultrasound of the gallbladder in 72% of patients in the steatosis stage of NAFLD. Bile crystallography made it possible to identify crystal optical markers indicating changes in the microstructure of gallbladder bile in patients in the steatosis stage of NAFLD. When conducting an examination of patients with NAFLD in the steatosis stage, to diagnose the early stage of cholelithiasis, it is recommended to conduct multifractional duodenal intubation with subsequent study of the physicochemical properties and structural changes of bile.
65-70 310
Abstract
The article presents the results of a clinical evaluation of the comparative effectiveness of monotherapy with urosodeoxycholic acid and its combination with himecromone at dosages of 600 mg and 1200 mg in 368 patients with biliary pathology. The study revealed a significant improvement in the indicators of the majority of patients in the observed groups (84.7% in the UDCA group, 85.9% in the UDCA + Gimecromone 600 mg group, 87.9% in the UDCA + Gimecromone 1200 mg group). Evaluation of the effectiveness of gimecromone at a dosage of 600 mg/day and 1200 mg/day in combination with UDCA showed that the relief of symptoms of biliary dysfunction had a dose-dependent effect and the use of gimecromone at a dose of 1200 mg /day had a more pronounced clinical effect.
Mortality analysis of the Gomel region population from diseases of the digestive system in 2009-2019
71-81 146
Abstract
The purpose of the study was to analyze mortality from diseases of the digestive system in the Gomel region for the period 2009-2019. Intensive and extensive mortality rates of the population from diseases of the digestive system were analyzed. Differences in the compared indicators were considered statistically significant with a Student’s t-test value of ≥ 2 and a significance р-level ≤ 0.05. From the data obtained, it was established that during the analyzed period there was no statistically significant trend in the increase in mortality rates of the Gomel region population from diseases of the digestive system in general, as well as among people of working age and older than working age. The mortality rate of the rural population of the Gomel region from diseases of the digestive system is 1.5 times higher than the mortality rate of the urban population. In the structure of mortality causes of the Gomel region population from diseases of the digestive system, including urban and rural populations, liver diseases (fibrosis and cirrhosis of the liver, except alcoholic) are in first place, vascular diseases of the intestine are in second place, acute pancreatitis and other diseases of the pancreas are in third place, in fourth place alcoholic liver diseases (cirrhosis, hepatitis, fibrosis), followed by duodenal ulcers, stomach ulcers and other diseases of the digestive system. Since liver diseases (fibrosis and cirrhosis of the liver, except alcoholic) are in the first place in these categories of the population, the main attention should be paid to primary prevention at all levels: rational and balanced nutrition, quality of medical care through high-quality clinical examination, timely diagnosis, effective treatment and rehabilitation.
82-86 193
Abstract
The radiation rectit is the structural and functional changes in the tissues of the rectum caused by the direct exposure to ionizing radiation. Currently, there is no clear strategy for treating patients with radiation rectit, allowing to achieve a long-term and persistent remission of the disease. The results of comparative research on the using of the developed by us method of treatment of patients with radiation rectit with medical product «Alfasoxx» are presented. The developed technique of complex treatment of radiation rectit with medical product «Alfasoxx» is effective, easy to perform and has reasonable prospects for introduction into the routine practice of a doctor-coloproctologist.
87-96 889
Abstract
The purpose of the study is to evaluate the efficacy and safety of a synbiotic in a short-term course (4 weeks), including an extract of garcinia cambogia, probiotics and prebiotics in patients with MS Materials and methods. The pilot, observational, open-label, non-randomized prospective clinical trial included 20 patients with metabolic syndrome (13 males and 7 females, Me age 42 years). A biologically active food supplement (synbiotic) “LINNI SLIM” (PharmlandBIO, Republic of Belarus) was used, including an extract of garcinia cambogia (containing 60% hydroxycitric acid, 0.03 g/g), probiotic strains of the genus Bifidobacterium (B. bifidum, B. animalis ssp lactis, B. longum ssp longum) CFU/g) - 0.066x 109 CFU/g and Lactobacillus (L. Acidophilus, L. Plantarum, L. Rhamnosus, L. Casei, L. Crispatus, L. Reuteri, L. Gasseri) - 0,134 x 109 CFU/g; prebiotics (psyllium husk, microcrystalline cellulose, linseed fiber, inulin, fenugreek). The daily dose of garcinia cambogia is 0.3 g, dietary fiber is 5.16 g. The parameters of nutritional (including bioimpedance analysis) and metabolic status, safety (hepatotoxic effects) and tolerability (gastrointestinal symptoms, 2H-breath test with lactulose and glucose) were evaluated. Results. There was a significant decrease in serum concentrations of insulin (15.2 [9.7; 23.0] Vs 10.9 [6.6; 16.4] mcU/ml; p=0.002), triglycerides (2.1 [1.4; 2.3] Vs 1.2 [1.2; 1.9] mmol/l; p=0.002), values of the HOMA-IR index (3.77 [2.54; 6.08] Vs 2.50 [1.44; 3.65]; p=0.003) without deviation of serum biomarkers of liver damage. Good tolerability and safety of “LINNI SLIM” was established: the appearance of symptoms of dyspepsia, stool disorders requiring the abolition of dietary supplements, deviations in the results of the 2H-breath test were not registered. Conclusion. A 4-week course of using the “LINNI SLIM” synbiotic at a daily dose of 10 grams has a positive effect on the metabolic status of the body (reduction of insulin, triglycerides, HOMA-IR - insulin resistance index) with satisfactory safety parameters. The effectiveness and improvement of “metabolic health” allows the use of the “LINNI SLIM” synbiotic in the initial therapy for reducing (controlling) body weight in people suffering from metabolic syndrome on the background of obesity.
REVIEW
108-118 513
Abstract
The defeat of the upper gastrointestinal tract is a common pathology in patients with diabetes mellitus. Its presence not only worsens the quality of life of patients, but can also lead to serious complications. The clinic and the course of diseases of the upper digestive tract have its own characteristics in patients with type 1 and type 2 diabetes mellitus. Knowledge of these features will allow doctors to correctly assess the condition and treat these patients. The review presents literature data and the results of our own research on the course and treatment of diseases of the esophagus, stomach and small intestine in patients with diabetes mellitus. Many years of experience of the authors on this subject may be useful to endocrinologists, gastroenterologists and therapists.
A. I. Khavkin,
K. M. Nikolaychuk,
V. D. Nikolaeva,
A. S. Veremenko,
I. D. Levchenko,
P. Ya. Platonova,
M. F. Novikova,
A. S. Tumas,
E. E. Vergunova,
E. V. Shrayner
119-133 656
Abstract
The presented article discusses the complex effect of pectins, especially of citrus origin, on functional and biological processes in the body. The main attention is paid to their structural characteristics, mechanisms of interaction with cells of innate immunity and their potential influence on the development and regulation of inflammatory bowel diseases. The role of methylesterification of pectins in their biological activity is discussed. Reducing the degree of methyl esterification improves the bioavailability of pectins and their interaction with cellular receptors such as Toll-like and galectin-3, which is important for their anti-inflammatory and anti-adhesive properties. Structural modifications of pectins have been shown to directly affect their ability to modulate immune responses and interact with the gut microbiota, which helps to strengthen the intestinal barrier and reduce inflammation. Promising results have been shown by experiments using pectins in diets aimed at treating inflammatory bowel diseases such as non-specific ulcerative colitis and Crohn’s disease. Despite the anti-inflammatory effects found, the full mechanism of action of pectins and their effect on different types of inflammatory cells, such as Th17 and Th1, requires further investigation
134-138 124
Abstract
The exosecretes of the digestive glands contain two pools of hydrolytic enzymes - newly formed in the secretory cycle of glandulocytes and recreted from blood flowing to the glands. The second pool of enzymes is repeated many times due to the incretor transport and resorption of hydrolases and zymogens from the secretions of the ductal system of the glands and the chyme of the gastrointestinal tract into the composition of the interstitial fluid and the lymph formed by it. These processes ensure the recycling of digestive gland enzymes, reusable delivery of hydrolases and their inclusion in the composition of exosecretes. The key role in providing enzyme digestion is played by the transport of resorbed and increted enzymes by the lymph flow. This is the digestive role of lymph and lymph flow.
CLINICAL CASES
139-143 170
Abstract
The article describes a clinical case of bleeding from diverticula of the small intestine in patient E. 1957, who entered the State Budgetary Institution RO OKB on 10/03/2023. with clinical picture gastrointestinal bleeding of unspecified etiology. In the result of a diagnostic study, collection of anamnestic data and clinical picture, a diagnosis was made: gastrointestinal intestinal bleeding of unspecified origin. After FGDS and no visible sources of gastric bleeding, and lack of positive effect from conservative therapy, increasing hypotension, deterioration of general condition with hemoglobin 82 g/l. a decision was made to perform a blood transfusion and combined hemostatic therapy. Conservative treatment turned out to be ineffective, and therefore it was accepted decision on emergency surgical treatment. Urgent patient a diagnostic laparotomy was performed. During revision of the abdominal organs cavity, the source of bleeding was identified. A section of the small intestine was resected at a distance of 15 cm from the ligament of Treitz over a distance of 70 cm with multiple diverticula. An interintestinal side to side anastomosis. In the postoperative period, data for relapse. There is no gastrointestinal bleeding. On day 9 the patient was discharged under the supervision of a surgeon at the place of residence in satisfactory condition.
144-148 167
Abstract
Aim. To demonstrate the stages of development of the clinical picture, methods of diagnosis and treatment of Crohn’s disease during pregnancy, hepatocellular cancer and ulcerative colitis. The study uses clinical trial data and biomarkers, and explores new imaging techniques to develop more accurate approaches to diagnosis. Methods. A detailed analysis of several representative patients representing different aspects of the disease. Results. The first clinical case is a patient diagnosed with Crohn’s disease. The study provides data on primary symptoms such as abdominal pain, diarrhea, and weight loss. The course of the disease, the results of laboratory and instrumental studies are analyzed, and the effectiveness of the applied treatment methods is also highlighted. The second case is dedicated to a patient diagnosed with ulcerative colitis and hepatocellular cancer. In this context, the characteristic symptoms of ulcerative colitis are considered: abdominal pain, frequent changes in the type of stool and inflammatory changes in various parts of the intestine. The results of gastroscopy and colonoscopy are analyzed. The third clinical case is a combined diagnosis, when the patient simultaneously shows signs of ulcerative colitis and Crohn’s disease. This case highlights the complexity of differential diagnosis and the importance of an individualized approach to treatment. Conclusion. The research work devoted to the differential diagnosis and treatment of ulcerative colitis and Crohn’s disease has revealed several important aspects that doctors face in such clinical cases. These include: the complexity of differential diagnosis, the role of additional diagnostic methods, and an individualized approach to treatment.
149-153 214
Abstract
Objective. To demonstrate a case of a rare congenital liver disease, Caroli disease, characterized by segmental non-obstructive fibrocystic dilatation of the intrahepatic bile ducts. Main points. Caroli disease was first described by the French doctor Jacques Caroli in 1958. There are 2 types of Caroli disease: True type with dilation of the intrahepatic bile ducts, usually affecting one segment and with a tendency to form stones and develop cholangitis. The second type, which is combined with congenital hepatic fibrosis, polycystic kidney disease and is more common than the true type. When the disease is accompanied by CHF, it is called Caroli syndrome or Grumbach disease. It is important to remember about Crowley’s disease and include it in the differential range of diseases of the biliary tract and liver, such as cholangitis, secondary biliary cirrhosis, portal hypertension of unknown etiology, cholangiocarcinoma. Conclusion.The diagnosis of Caroli disease and Caroli syndrome is made using imaging studies. Treatment is largely supportive and should be individualized, with prognosis depending on the severity of the disease and the presence of concomitant renal dysfunction.
154-158 204
Abstract
Lysosomal acid lipase deficiency is an orphan autosomal recessive disease associated with the presence of mutations in the LIPA gene. Clinical manifestations of lysosomal acid lipase deficiency come in two main forms: Wolman’s disease and cholesterol ester storage disease. The article presents current information about the disease, describes the most characteristic clinical and laboratory signs, features of enzyme replacement therapy, outcomes and prognosis of the disease in children. The article also provides its own clinical observation of the family case of cholesterol ester storage disease in brothers.
ISSN 1682-8658 (Print)