[Case of multiple systemic (extrahepatic) manifestations of chronic HCV infection (analysis of the literature and own observations). Case report].

The article presents a description of a patient with chronic HCV infection and multiple extrahepatic manifestations, which manifested in dynamics and were recorded with a different sequence during 15 years of follow-up. In the patient we observed, the most frequently recorded extrahepatic manifestations were verified: porphyria cutanea tarda, mixed cryoglobulenemia, and utoimmune thyroiditis. Chronic HCV infection is often diagnosed in the presence of psoriasis was assessed as a paraneoplastic disease.

[Cardiovascular syphilis (current state of the problem and analysis of own observations)].

A description of two cases of cardiovascular syphilis is presented. The introduction discusses the relevance of visceral syphilis. The literary review is constructed in a chronological format and reflects the stages of studying the problem of cardiovascular syphilis. It emphasizes that cardiovascular syphilis is currently a rare pathology and internists are more likely to encounter it. Verification of the pathology of the cardiovascular system, including aortic aneurysm, during the early stages of syphilis (early latent) does not exclude the option of combined pathology. Early forms of syphilis in patients with diseases of the cardiovascular system should be considered a factor that complicates diagnosis. Such patients should be carefully examined to determine the cause of the disease. Rationale for the diagnosis of cardiovascular syphilis requires a comprehensive assessment of the results of clinical, laboratory and instrumental examination of the patient. A preliminary diagnosis of the specific etiology of an aortic aneurysm should be based on the following criteria: 1) relatively young age of patients with socially inappropriate sexual behavior; 2) sudden onset and rapid progression of the main signs of the disease. All patients with newly diagnosed aortic aneurysm at the outpatient stage should perform a serological examination. The diagnosis of cardiovascular syphilis, namely a syphilitic mesaortitis, can be established or confirmed by an autopsy.

[Clinical and metabolic features of nonalcoholic fatty liver disease in men and women]. / Klinicheskie i metabolicheskie osobennosti nealkogol'noi zhirovoi bolezni pecheni u muzhchin i zhenshchin.

AIM: To evaluate clinical features and metabolic disorders in men and women with non-alcoholic fatty liver disease (NAFLD).

NON-ALCOHOLIC FATTY LIVER DISEASE IN ELDERLY.

AIM: The study of the clinical course and metabolic disorders in patients nonalcoholic fatty liver disease (NAFLD) elderly. SUBJECTS AND METHODS: 153 patients with NAFLD was investigated, including 97 men and 56 women. In comparative terms we studied clinical manifestations of NAFLD. All patients NAFLD was verified for the first time. We studied the functional state of the liver function, lipid, carbohydrate and porphyrin metabolism, insulin resistance. RESULTS: Revealed comorbid pathology, which is predominantly observed in elderly patients. Disturbances in lipid metabolism and insulin resistance hyperinsulinemiya and proved to be more significant in young patients. Disorders of porphyrin metabolism observed in most patients. Disorders are variable. Do young people have dominated the initial disorder, on the other hand more often in elderly patients were observed faction (later) porphyrin metabolism disorders. CONCLUSION: Studies suggest that the main pathophysiologic and pathogenetic processes of formation of NAFLD (insulin resistance and dyslipidemia) significantly more pronounced in younger patients. This fact suggests that NAFLD is mainly formed at a young age. Elderly patients have comorbid pathology.

[ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE].

THE PURPOSE OF THE STUDY: The aim of the present work was to study the frequency of genotypes and alleles of C282Y and H63D HFE gene that may be associated with impaired porphyrin metabolism, as well as possible reasons for the formation of dysmetabolism porphyrins with NAFLD. MATERIALS AND METHODS: The study involved 65 patients (52 men and 13 women) aged 21 to 69 years (mean age 48.5±1.5 years). Excretion uroporphyrin, coproporphyrin, 6-aminolevulinic acid of porphobilinogen in urine was determined by chromatography and spectrophotometry calculated total excretion of porphyrins. Allele frequencies C282Y and H63D were determined during the molecular genetic analysis of DNA using the polymerase chain reaction followed by analysis of length polymorphism restraktsionnyh fragments. Condition of carbohydrate metabolism was evaluated by the level of fasting blood glucose and standard glucose tolerance test. Diagnosis of insulin resistance was performed according to the criteria proposed by the European Group for the Study of insulin resistance (EGIR). RESULTS: Skill test for the C282Y mutation carriage and H63D in the HFE gene in 65 patients with non-alcoholic fatty liver disease. Disturbances in the metabolism of porphyrins were recorded in 43 (66.2%) patients. H63D and C282Y mutations were found in 18 (27.7%) patients, of whom 13 (72.2%) people with different options dismetabolism porphyrins and signs of insulin resistance. In 47 (72.3%) patients without mutations studied porphyrin metabolism disorders were detected in 30 (63.8 %), of which insulin resistance is registered only in 16 (34.0 %). CONCLUSION: Detection of mutations C282Y and H63D in the HFE gene in combination with disorders of porphyrin metabolism on the background of insulin resistance is likely to allow such patients considered as candidates for inclusion in the higher risk of formation of diabetes.

[Porphyrin metabolism in women with metabolic syndrome].

A total of 47 women with metabolic syndrome (MS) were examined with the fractional determination of porphyrins in urine (uroporphyrin and coproporphyrin) and feces (coproporphyrin and protoporphyrin) as well as their precursors (5-aminolevulinic acid and porphobilinogen). Disorders of porphyrin metabolism were documented in 29 (61.7%) women All patients had elevated levels of porphyrin precursors. Five women exhibited qualitative changes in the form of abnormal ratios of different porphyrin fractions(coproporphyrin/uroporphyrin < 1--0.8 ± 0.1 vs normal ratio 3.6 ± 0.4). 21 patients suffered quantitative changes in porphyrin metabolism in the form of manifold increase of porphyrin levels in urine and/or feces and formation of biochemical syndromes of secondary coproporphyrinuiria, symptomatic rise in porphyrin content in feces, and chronic latent hepatic porfiria. Disorders of porphyrin metabolism were associated with insulin resistance. Changes of porphyrin metabolism in MS extend the spectrum of concomitant disturbances and can be regarded as an additional criterion.

[The porphyrin metabolism in liver cirrhosis].

AIM: To comparatively study porphyrin metabolic disturbances in liver cirrhosis (LC) of varying etiology and to estimate the diagnostic and prognostic value of the detected disorders. SUBJECTS AND METHODS: Seventy-one patients were examined; among them 34, 15, and 22 patients were diagnosed as having alcoholic, viral, and alcoholic-and-viral LC, respectively. Its predictors and porphyrin fractions were determined in their urine and feces. RESULTS: Porphyrin metabolic disturbances were recorded in 62 (87.3%) patients and found in the majority of patients with viral (86.7%), alcoholic (94.1%), and mixed (77.3%) LC. The detected abnormalities corresponded to 4 variants of porphyrin dysmetabolism: elevation of porphyrin predictors, biochemical syndromes of symptomatic elevation of fecal porphyrins, secondary coproporphyrinuria, and latent chronic hepatic porphyria (LCHP). Some patients were found to have comorbidities, suggesting the stepwise development of porphyrin dysmetabolism. The disturbances were identified in patients with LC irrespective of the Child-Pugh class. The prognostically less favorable biochemical syndrome LCHP was recorded only in the presence of progressive hepatocellular failure in Child's class C decompensated LC. This trend should be considered to be prognostically unfavorable, preceding or occurring in the presence of decompensated LC that is more often a cause of death in this contingent of patients. CONCLUSION: Porphyrin metabolism should be regarded as a highly sensitive indicator. The differential assessment of the porphyrin excretory profile may be referred to as additional diagnostic and prognostic criteria indicating the Child-Pugh class.

[Toxic effects of cadmium on the human body (literature review)].

A review of the literature about the toxic effects of cadmium on the human body. We describe a patient with clinical and biochemical signs of an attack of acute porphyria imitated or severe lead poisoning. In the patient's blood was revealed a 3-fold, compared to the allowable rate, increase of cadmium in the normal lead content. We discuss the etiologic role of cadmium and the possible pathogenetic mechanisms of this pathological condition.

[Comparative characteristics of porphyrins metabolism in chronic viral diseases of the liver].

AIM: To study porphirin metabolism in chronic viral infections of the liver. MATERIAL AND METHODS: The examination of 101 patients with hepatic viral infections diagnosed chronic HCV-infection in 30 patients, chronic HBV infection in 25 patients and combined infection in 6patients. Patients with chronic alcohol intoxication were not included in the trial. Urinary uroporphirin and coproporphirin (CP), fecal protoporphirin and CP were estimated. Total porphirines were calculated. RESULTS: 29 patients with chronic viral hepatitis had no porphirin disbolism. The latter (elevation of porphirine fractions in the urine and/or feces) was detected in 11 (84.6%) of 13 patients with hepatic cirrhosis (HC). Biochemical syndromes of elevated fecal porphirines, secondary coproporphirinuria, chronic latent hepatic porphiria were developing. The above disorders progressed with aggravation of the disease severity. In manifest late skin porphiria chronic HCV infection was detected in 19 (32.2%) of 59 patients. CONCLUSION: In non-alcoholic patients with chronic diffuse diseases of the liver of viral etiology nonspecific disturbances of porphirine metabolism develop at the stage of arising HC and are registered more frequently in the presence of chronic HBV-infection. Frequent combination of chronic HCV-infection with manifest late skin porphiria suggests a trigger role of HCV initiating specific disbolism of porphirines in this disease.

[Clinical and biochemical syndromes of cadmium-induced acute porphyrinopathy].

AIM: To study the specific features of porphyrin metabolic disturbances in cadmium poisoning. MATERIAL AND METHODS: The paper describes a patient who has developed clinical and biochemical syndromes of acute porphyrinopathy after exposure to cadmium-containing paint the vapors. The levels of delta-aminolevulinic acid, porphobilinogen, coproporphyrin, and uroporphyrin in urine and those of coproporphyrin and protoporphyrin in feces were measured. The concentrations of lead, cadmium, and copper were determined in whole blood and urine; selective screening of amino acids for hereditary metabolic diseases was made. RESULTS: The clinical signs of acute porphyrinopathy developed in the patient mimicked those of acute porphyries known by the current classification. The biochemical syndrome more corresponded to lead poisoning. However, the blood and urinary lead levels were not greater than the normal values, but the blood showed a 4-fold increase in cadmium, which seemed to induce porphyrin dysmetabolism.

[Differentiated diagnosis of specific lung diseases in early syphilis].

To state the diagnosis of early specific pulmonary disease, it is necessary to obtain clinical and/or serological data to reject manifest secondary or early latent syphilis. The most important differential-diagnostic criterion of early syphilis of the lungs is a rapid effect of specific antisyphilis therapy with further verification of complete resolution of pulmonary lesions. Two case reports are presented.

[Non-medicamentous correction of metabolic and functional disorders in the biliary tract of patients with metabolic syndrome].

This study included 49 patients with coronary heart disease (CHD) and arterial hypertension (AH) in whom comprehensive medical examination revealed metabolic syndrome (MA). The objective of the work was to ascertain the possibility of therapy courses using chloride-hydrocarbonate-sodium mineral water and to evaluate its corrective effect on metabolic processes and functional disturbances of the biliary tract. It was shown that mineral water has beneficial effect in patients with functional incompetence of the biliary tract. Elimination of pain syndrome and resolution of dyspeptic symptoms was associated with the improvement of physico-chemical characteristics of the bile in the majority of the patients. These changes developed 1.5-2 times sooner than in the absence of therapy which substantially improved quality of life of the patients. Another positive result of mineral water consumption was the reduced level of blood lipids, in the first place that of total cholesterol and triglycerides. The efficiency of corrective action of non-medicamentous treatment modalities, such as courses of intake of chloride-hydrocarbonate-sodium mineral water, in patients with functional disturbances of the biliary tract is comparable with that of recommended drug therapy. The hypolipidemic effect of chloride-hydrocarbonate-sodium mineral water demonstrated in the present study allows it to be recommended as a tool for non-medicamentous correction of hyperlipidemia known to be not only a risk factor of CHD and AH but also as a constituent component of metabolic syndrome. The data obtained suggest the possibility to improve efficiency of the treatment of motor dysfunction of the biliary tract and metabolic disorders inherent in metabolic syndrome.

[Porphirin metabolism in non-alcoholic steatohepatitis].

AIM: To study porphirin metabolism in non-alcoholic steatohepatitis (HASH). MATERIAL AND METHODS: The trial enrolled 66 patients with verified diagnosis of HASH. Patients with chronic viral hepatitis and chronic alcohol intoxication were not included in the trial. Aminolevulinic acid (ALA), porphobilinogen (PBG), uroporphirin (UP) and coproporphirin (CP) were assayed in urine, protoporphirin (PP) and CP--in the stool. Total content of porphirins and proportions CP/UP and PP/CP were estimated. RESULTS: 17 patients had normal total porphirin excretion with urine but high levels of ALA, PBG, UP fraction, changed fractions proportion. 21 patients had high content of urinary and fecal porphirin fractions. Biochemical syndromes of high fecal porphirin concentration, secondary coproporphirinuria, chronic latent hepatic porphiria were under development. The above disorders were associated with carbohydrate, lipid and iron disbolism. In porphirin disbolism histological signs of liver fibrosis occurred more frequently. 56 (84.8%) patients had signs of metabolic syndrome. CONCLUSION: Disorders of porphirin metabolism in HASH patients are characterized by many nonspecific abnormalities and metabolic disturbances. Patients with different variants of porphirin disbolism developed hepatic fibrosis more frequently.

[Use of chloride-hydrocarbonate sodium mineral water in the combined therapy of cardiovascular diseases].

Ability and efficiency of use of chloride-hydrocarbonate sodium mineral water Karachinskaya in the combined therapy of coronary heart disease (CHD) and arterial hypertension (AH) were studied. Mineral water was used in regimen of 1000 ml in a day for 10 days. This intake of mineral water did not have a negative influence on the course of CHD and AH. Hypocholesteremic action of the mineral water was registered. Probable pathogenetic mechanisms of hypocholesteremic action of the mineral water are analyzed. Detected effects make possible to recommend use of chloride-hydrocarbonate sodium mineral water Karachinskaya to improve health reserves and prevent cardiovascular diseases.

[The combination of carbohydrate and porphyrinic exchange disturbances: is it a chance or regularity?].

The subjects of the study were 399 patients with internal diseases and metabolic disturbances. Carbohydrate exchange parameters (fasting level of capillary blood glucose and glucose tolerance test), and porphyrin fractions in urine (uroporphyrin, coproporphyrin), and feces (protoporphyrin, coproporphyrin) were measured. Hepatic type of porphyrinic dysmetabolism was registered in 201 (50.4%) patients. Out of these patients, 38 had disturbances corresponding to the criteria of symptomatic elevation of fecal porphyrin level, 28 had secondary coproporphyrinuria, 40 had latent, and 95 had manifest late cutaneous porphyria. In patients with normal porphyrinic exchange, the frequency of carbohydrate exchange disturbances did not exceed 6%, while in patients with different variants of porphyrinic dysmetabolism it was almost 40%. The results show that patients with hepatic type of porphyrinic dysmetabolism should be considered to have a higher risk of the development of diabetes mellitus and other carbohydrate disorders.

[Porphyrin metabolism in men with metabolic syndrome].

Forty-three patients with metabolic syndrome (MS) were examined. The urinary (uroporphyrin--UP and coproporphyrin--CP) and fecal (CP and protoporphyrin) fractions of porphyrin, as well as the urinary excretion of porphyrin precursors (S-aminolevulinic acid and porphobilinogen) were measured. Porphyrin metabolic disturbances were registered in 33 (76.7%) patients. Nine of these patients displayed such qualitative changes as fraction mismatch (CP/UP < 1; the normal value is 2.1 +/- 0.4), and an increase in the level of porphyrin precursors, while their total urinary porphyrin level was normal. In 24 patients pathological changes in porphyrin exchange were characterized by such quantitative changes as a many-fold increase in urinary and/or fecal porphyrin fraction as well as the development of secondary biochemical coproporphyrinuria syndromes, symptomatic elevation of fecal porphyrin level, and latent late cutaneous porphyria. Changes in porphyrin exchange in patients with metabolic syndrome broaden the scope of disturbances occurring in this syndrome, and allow considering these changes as additional criteria.

[Metabolism of porphyrins in patients with hepatic cirrhosis].

The article analyses the results of the study of porphyrins metabolism in 53 patients with chronic hepatic diffuse diseases at the stage of hepatic cirrhosis (HC). HC of viral etiology was diagnosed in 16 patients, and HC of ethanol etiology--in 9 patients. As many as 11 patients were diagnosed with primary biliary cirrhosis (PBC), and 10 patients--with idiopathic hemochromatosis (IHC). As many as 3 patients with manifested late skin porphyria developed secondary hemochromatosis, and 4 patients have manifested late skin porphyria with HC. Nonspecific disorders of porphyrins metabolism were revealed in 14 patients suffering from viral HC, 7 patients with ethanol HC, 9 ones with PBC and 8 suffering from IHC. Altogether 38 patients (82.6%) of the entire group of examined patients had pathological abnormalities. Porphyrins metabolism disorders manifested various combinations of biochemical features. Increased values of all porphyrin fractions in urine and faces were the most common characteristics (15 patients) as well as secondary coproporphyrinuria (15 patients). Symptoms of the growth of porphyrins in faces was less frequent (8 patients). Porphyrins metabolism disorders were assessed as a negative factor as the accumulation of the excessive amount of porphyrins in hepatocytes results in a rapid progress of hepatocellular deficiency. The dynamic assessment of porphyrins metabolism values is considered to be an important prognostic criterion for HC. The tested reduction of the porphyrin level can be a sign of hepatic deficiency with a serious prognosis.

[The clinical characteristics of the course of hemochromatosis]. / Klinicheskie osobennosti techeniia gemokhromatoza.

Eight patients with hemochromatosis (HC) were followed up. For a long time HC ran a latent course. Throughout many years, the symptoms occurred at varying succession. In many cases, the first manifest symptoms included skin itch, arthropathy, and diabetes mellitus. They may be dominant in the clinical picture for a long time, masking the genuine cause of the disease. The correct diagnosis was established, as a rule, at the pronounced stage of HC. Before that event the patients were followed up and treated by the endocrinologist (3 persons), by the infectionist (2 persons), dermatologist and traumatologist (2 persons), and by the internist (1 person). Appearance of one of the symptoms of the classical triad can be regarded as the onset of HC. The cardinal symptoms that determine the clinical picture progressed for the most part: liver cirrhosis, diabetes mellitus, and melanoderma. The first two require appropriate correction. Melanoderma presents a cosmetic and social and psychological problem. In HC patients, disorders occurring by the type of liver porphyria are recordable. They are of secondary nature, being an unfavourable prognostic sign. Investigation of iron metabolism in patients suffering from chronic liver diseases should be carried out by all means, since it can be regarded a specific enough test in the diagnosis of HC. Emphasis is laid on the importance of early diagnosis of HC.

[Alcohol and its effect on porphyrin metabolism]. / Alkogol' i ego vliianie na obmen porfirinov.

Urinary and fecal levels of porphyrins were measured spectrophotometrically for 388 patients. 66 of them suffered from melanodermic skin lesions without hepatic affection, 95 had chronic hepatic diseases and 227 exhibited porphyria cutanea tarda. The results were considered in relation to the lesion and alcohol habits. Alcohol proved to provoke manifestations of porphyrin disbolism. High protoporphyrin fecal concentrations serve early indications of alcohol-induced damage to the liver. Alcohol abuse results in persistent disorders of porphyrin metabolism in subjects with chronic active hepatitis and hepatic cirrhosis. In established clinical and biochemical syndrome of porphyria cutanea tarda alcohol contributes to further progression of fermentopathy specific for relevant porphyria.

[Porphyrin metabolism in chronic liver diseases]. / Sostoianie porfirinovogo obmena pri khronicheskikh zabolevaniiakh pecheni.

Out of 147 patients with chronic hepatic diseases, chronic persistent hepatitis, chronic active hepatitis, hepatic cirrhosis, alcoholic lesions of the liver, biliary hepatic cirrhosis and Gilbert syndrome were registered in 26, 35, 27, 43, 8 and 8 patients, respectively. Urinary and fecal porphyrins were measured spectrophotometrically. Disturbances in porphyrin metabolism were diagnosed in 76 patients (51.7%). Four different biochemical syndromes were identified: 1) a symptomatic rise of fecal porphyrins only, 2) secondary coproporphyrinuria, 3) secondary coproporphyrinuria in combination with high fecal protoporphyrin, 4) biochemical syndrome of chronic latent hepatic porphyria. These syndromes were not strictly specific, but secondary coproporphyrinuria occurred significantly more often in chronic active hepatitis and biliary cirrhosis. High symptomatic fecal porphyrins were characteristic for alcoholic affections, and latent hepatic porphyria was indicative of hepatic cirrhosis. Disturbed porphyrin metabolism arises in more severe hepatic lesions and runs in association with more rapid development of hepatocellular insufficiency. Probable pathochemical mechanism and diagnostic value of the above impairment are discussed.