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The purpose of the study was to evaluate the clinical and laboratory features of infectious mononucleosis with liver damage in children hospitalized in an infectious diseases hospital.Materials and methods. A comparative retrospective study was conducted from January 2018 to June 2021. 200 Medical records of an inpatient were selected by random sampling. Inclusion criteria: age from 1 to 17 years, clinical presentation of infectious mononucleosis, absence of severe concomitant pathology. All patients underwent a standard laboratory examination, additionally determined the DNA of herpes viruses in the blood by PCR. Depending on the presence of cytolysis syndrome (ALT level > 31 U/l), all patients were divided into 2 groups: children with hepatic manifestations of IMN – 80 patients (40%) and without them – 120 (60%). Statistical analysis of the obtained results was carried out using the statistical program Statistica 8 (USA).Results. Epstein – Barr virus was the cause of the development of IMN clinic in 59% (118/200) of cases of monoinfection and in 14.5% (29/200) in combination with other herpesviruses. All participants in the study had moderate disease. An increase in the level of alanine aminotransferase (ALT) above 150 U/L was recorded in 9.5% (19/200) of the examined, no one had more than 1000 U/L, the median was 72.5 (MKR 48–138.5) U/L. Liver damage was more often recorded in children older than 3 years, girls predominated (53.8%, p = 0.017). In patients with liver damage, the following were recorded: moderately severe fever and lymphadenopathy (p < 0.05), hepatosplenomegaly (p < 0.001), lymphocytic leukocytosis (p < 0.05), thrombocytopenia (p < 0.001), atypical mononuclear cells were detected more often (p < 0.001), less often an increase in the level of CRP (p = 0.008).Conclusions. Our study showed that liver damage in IMN is registered in 40% of hospitalized children. Obviously, children with moderate forms of IMN need laboratory and instrumental monitoring of the state of the hepatobiliary system and appropriate correction of therapy.

Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene variants in patients with SDS and features of disease course have not been studied before in Russian population.Objective. The aim of the study was to describe all the variants of SBDS gene and clinical and laboratory abnormalities in children with SDS. Methods. In this prospective study exocrine pancreatic function was estimated by amylase and lipase activity in blood, steatorrhea presence and stool elastase levels during the initial hospitalization. Haematological disorders were analysed by complete blood count. Bone abnormalities were diagnosed via X-ray imaging. Growth delay was established due to anthropometry indicators and percentile curves. Molecular genetic testing was performed with using next generation sequencing and Senger sequencing.Results. Pathogenic variants in SBDS gene (8 in general) were revealed in 25 (89%) out of 28 children with SDS. The most common variant (in 23 patients, 82%) was с.258+2T>C, and in 18 cases it was in compound heterozygous state with c.183_184delTAinsCT. Two patients had с.653G>A (p.Arg218Gln) variant and for one patient for every of the following variants: c.258+1G>A, c.107delT, с.356G>A, c.297_300delAAGA, c.338C>T. All children with SDS had growth delay, in 11 (39%) cases we revealed bone abnormalities. In blood samples of 24 (86%) children we revealed neutropenia and less frequently anemia and thrombocytopenia. The stool elastase I decreased activity (< 200 pg/g) was revealed in 26 (92%) patients. 21 (75%) children had cytolysis syndrome.Conclusion. Pathogenic variants of SBDS gene were revealed in majority of Russian children with SDS. The most frequent are c.258+2T>C and c.183_184delTAinsCT variants. Clinical signs of Shwachman-Diamond syndrome manifest since birth with growth delay, steatorrhea and haematological disorders.

Hypertrophic cardiomyopathy is the second most frequent cardiomyopathy in children and it counts as a genetic disorder for a high number of cases, with widely variable clinical presentation. The disease can be recognized in all age groups and has an unpredictable prognosis, especially if undiagnosed on time. We present the case of a two and a half years old male toddler diagnosed at territorial level with systolic heart murmur, who manifested mild fatigue, whose echocardiographic examination showed obstructive hypertrophic cardiomyopathy and restrictive atrial septal defect. Laboratory findings revealed a severe, progressive cytolysis syndrome, with negative genetic tests for Duchenne muscular dystrophy and type II glycogen storage disease – Pompe disease. Haematological tests excluded a pathology in this section and the serology for viruses with liver tropism was negative. The particularity of this case lies in the discrepancy between severe cytolysis syndrome and clinical oligosymptomatic presentation.

The measurement of aminotransferases levels has become part of the routine biochemical tests done in children regardless of their clinical symptoms. Aminotransferases (ALT, AST) are tissue necrosis markers which change in both hepatic and extra-hepatic conditions. The aim of this study was to establish the etiology and clinical signifi cance of the cytolysis syndrome without cholestasis in children hospitalized for various pediatric conditions. The study group consisted of 394 children (aged between 1.5 months and 16 years)with elevated values of ALT, AST. The investigation protocol applied included history, full physical examination, complete biological investigations, viral markers and liver ultrasounds.Depending on the aminotransferases values as compared to the normal value (NV), the patients were included in 3 study subgroups: 222 patients with slightlyelevated transaminases values (< 2xNV) (subgroup I), 164 patients with ALT and AST values between 2-3xNV (subgroup II) and 8 patients with TGP, TGO values > 3 x NV (subgroup III). The ALT and AST values were determined monthly during the fi rst 3 months, and then every 2 to 6 months. In all groups the etiology was dominated by acute bacterial (respiratory, urinary, digestive) and viral (Epstein Barr, Citomegalovirus infection) conditions. Other causes of cytolysis syndrome were nutritional and metabolic diseases (obesity, mellitus diabetes, phenylketonuria, cystic fi brosis, congenital hypotiroidism). The etiology remained unclear in 20.31% of the cases, yet the transaminase values returned to normal after 6 months with diet and hepatoprotective therapy. Slightly elevated ALT andASTvalues do not require thorough investigations, as they usually return to normal within the first three months. On the other hand, mildly and severe increases, which persist after three months therapy require further investigation to determine the etiology (viral infections, autoimmune, nutritional and metabolic diseases).