No 1 (2016)

Objective. To examine the association of polymorphic markers G(-238)A of TNF gene, G(-174)C of IL6 gene and G(-lO82)A of ILIO gene with the clinical and morphological features of chronic glomerulonephritis (CGN). Materials and methods. Clinical syndromes and morphological variants of nephritis regarding the carriage of polymorphic markers of tnf, IL6 and ILIO genes were retrospectively analyzed in 102 CGn patients (47 men and 55 women) the at the time of diagnosis. Results. Examination of clinical features of CGN, regarding the polymorphic marker G(-238)A of TNF gene did not reveal significant differences between treatment groups. Carriers of the с allele of IL6 gene compared with GG homozygotes more frequently had renal dysfunction (35.7% and і3%, respectively, p=0.014). There was a tendency to differences in the activity of CGN, depending on the polymorphic marker G(-174)C of IL6 gene: high activity of CGN (PU>3 g/day or NS with preserved renal function), p=0.088, was more frequently observed in patients with GG genotype, whereas carriers of с allele had higher rates of very active CGN (PU>3 g/day, or NS with concomitantly impaired renal function), p=0.069. Carriers of polymorphic marker genotype G(-lO82)A of ilio gene were more frequently found to have ah (56.3% compared with 32.2% of carriers g allele, respectively, p=0.023), and tended to more frequently have combination of NS and hypertension (29,7% vs. і5,5% in carriers of the g allele, respectively, p=0.082). The analysis of the association of polymorphic markers of tnf, IL6 and ILIO genes with morphological variants of CGN revealed a trend towards more frequent occurrence of proliferative CGN variants in patients with the GG genotype (Tnf gene) as compared with carriers of the a allele (46.3% and 20.0%, respectively, p=0.067), whereas in patients with genotype GG (IL6 gene) nonproliferative nephritis was more frequently (53.7%) found relative to carriers of с allele (26.7%); P = 0.067. Conclusion. There is association of polymorphic markers G(-174)C of IL6 gene and G(-i082)A of ILIO gene with clinical manifestation of CGN at the time of diagnosis. The carriage of allele с of polymorphic marker G(-174)C of IL6 gene is associated with more frequent renal impairment at the onset of CGn, and AA genotype of polymorphic marker G(-i082)A of ILIO gene - with developing hypertension.

Objective. To investigate the incidence and severity of gastroesophageal reflux disease (Gerd) and a potential relationship with severity of lung damage in systemic sclerosis. Material and methods. 56 patients (mean age 46±і4 years) with diffuse and limited form of systemic sclerosis were allocated to groups on the basis of the presence or absence of gastroesophageal reflux disease (The Montreal Classification). To detect the presence and evaluate severity of lung damage, all patients underwent standard clinical and diagnostic investigations, including gastroduodenoscopy, contrast esophagography and high resolution chest ct. Results. GERD was found in 27 of 56 (48.2%) patients. Of them, 24 patients were on continuous therapy with proton pump inhibitors and 3 received them for exacerbations. Among 23 patients who underwent esophagogastroduodenoscopy, 1 patient had erosive GERD, 11 patients - non-erosive GERD (esophageal mucosa hyperemia) and 11 were found to have esophageal functional changes (endoscopy-negative stage). All studied patients had moderate esophageal damage. According to Savary-Miller classification of reflux esophagitis severity, 1 patient had grade I reflux esophagitis; there were no cases of grades II, III and IV reflux esophagitis. Almost all GERD patients (26 of 27) had dysphagia, while it was observed only in 11 patients without GERD. Esophageal motility disturbances according to contrast esophagography were found in 20 of 25 (80%) patients with GERD compared to 5 of 24 (20.8%) without Gerd. Clinically significant dyspnea (NYHA>II) was detected twice as often in patients with GERD compared with patients without GERD (at 92.6% compared to 44.8%, RESPECTIVELY, P=0.0002). DYSPNEA (NYHA III) was detected 4 times more often in patients with GERD compared with patients without Gerd (44.4% compared to 1 0.3%, respectively, p=0,006). severe INTERSTITIAL LUNG DISEASE (OVER 20%) ACCORDING TO GOH ET al. staging system was significantly more common in PATIENTS WITH Gerd (74. 1 % COMPARED TO 37,5% WITHOUT Gerd, P=0.018). Conclusion. GERD is a common co-morbidity in systemic sclerosis. The study findings showed that more severe LUNG DISEASE WAS ASSOCIATED WITH GERD SUGGESTING A POTENTIAL CONTRIBUTION OF GERD TO THE DEVELOPMENT AND PROGRESSION OF PULMONARY FIBROSIS IN PATIENTS WITH SYSTEMIC SCLEROSIS.

This clinical case report shows the difficulty in determining the causal link between kidney disease and parathyroid adenoma and the complexity of the differential diagnosis between primary and secondary hyperparathyroidism in the end-stage kidney disease (renal failure).

Aim To examine the features of clinical presentation and pregnancy-management strategy in a patient with distal renal tubular acidosis (type і). Materials and methods Medical history, findings of clinical, laboratory and instrumental examination, management strategy of pregnancy and childbirth in a patient with a rare kidney disease were analyzed. Results In 2014 a patient with renal tubular acidosis type 1 had an uneventful delivery at MRSIOG. a particular difficulty of the case was maintaining pregnancy with chronic metabolic acidosis, anesthesia for cesarean section, and correction of water electrolytes and acid-base balance abnormalities during and after delivery. Conclusion Planning and prolonging pregnancy in patients with renal tubular acidosis are feasible, provided that early diagnosis is made and proper correction of metabolic abnormalities is carried out. However, it is associated with a high risk of anesthesia and perinatal complications, and, therefore, requires continuous monitoring of clinical and laboratory indicators of pregnancy and delivery in the settings of highly specialized maternity hospitals.

The review presents a modern concept of renal manifestations in tuberous sclerosis. Surgical and medical treatment modalities are described.