The population frequency of neuropsychic developmental delays in infants is estimated at nearly 10%; that of global intellectual disability (mental retardation) is at 1-3%. Delayed development is denned as a substantial retardation as compared to the standard indicators in any of the basic spheres: motor, communicative, cognitive, adaptive-behavioral, and socioemotional ones. Global developmental delay is characterized by a significant lag in two or more spheres. The use of current diagnostic techniques, such as the Bayley or Griffiths scales, can provide an objective quantitative assessment of both an infant's overall development and indicators in individual spheres. At the preliminary examination stage, it is expedient to carry out a Denver developmental screening test that may be directly used in a doctor's consulting room. The causes of global developmental delay/intellectual disability in infants may be perinatal central nervous system (CNS) lesions; brain malformations; intrauterine infections; intrauterine intoxications; early-onset psychoneurological diseases (neuroinfections, CNS injuries, epilepsies, autism spectrum disorders, etc.); congenital hypothyroidism; genetic diseases. Among all genetic causes of global developmental delay/intellectual disability, there are chromosomal anomalies (25-30%), monogenic diseases (metabolic diseases, neuroectodermal syndromes, diseases with predominant grey and white matter involvement). The diagnostic possibilities of current genetic methods are considered.

The paper describes current methods for evaluating external respiratory function in children, including younger ones. Particular attention is given to high-precision ultrasonic spirometry, the estimation of static lung volumes and ventilation irregularity index by nitrogen leaching with oxygen; that of quiet breathing parameters in infants (impulse oscillometry; airflow interruption technique, bronchophonography), and the study of biomarkers for respiratory tract infections (gas analytical methods with fractional determination of nitric oxide and carbon monoxide, analysis of exhaled breath condensate and composition of induced sputum).

Atopic dermatitis is a chronic recurrent skin disease accompanied by itching, dry skin, and eczematous inflammation. In some of 5—10% of patients, the disease is noted to be continuously recurrent, which causes considerable financial costs of treatment and may give rise to disability and dramatically worse quality of life. The review gives information on promising areas in the prevention of atopic dermatitis in children and analyzes the possibilities of their clinical application.

The paper reviews the current literature on immune-mediated pediatric epilepsies. It describes the clinical picture, laboratory diagnosis, and treatment of autoimmune encephalitides (limbic encephalitis and anti-NMDA-receptor antibody encephalitis), Hashimoto's encephalopathy, opsoclonus-myoclonus-syndrome, and Rasmussen's syndrome, as well as groups of acute encephalopathies with immune-mediated status epilepticus (FIRES-, DESK-, HHE- syndrome). A clinical case of Hashimoto's encephalopathy is described. Emphasis is laid on a close relationship between epilepsy and inflammation, including the development of an autoimmune process due to recurrent epileptic seizures.

Barth syndrome is an X-linked recessive disease characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutro-penia, and 3-methylglutaconic aciduria. The Barth syndrome was first described as a mitochondrial disease leading to neutropenia and skeletal and cardiac myopathy. A deeper insight into the pathogenesis of the disease is associated with the development of its main genetic mechanisms. Mutations in the TAZ gene (Xq28) give rise to a loss of its function and to abnormalities in the cardiolipin structure and are responsible for the phenotype of Barth syndrome. Patients are susceptible to life-threatening bacterial infection and sepsis due to neutropenia; evolving heart failure is caused by cardiomyopathy, non-compact myocardium syndrome. Patient management tactics have recently undergone changes, resulting in longer survival.

The most important and noticeable rhythmical phenomenon observed in the human body is a sleep-wake rhythm and related physical and mental changes. The so-called circadian rhythms that vary over a period of approximately 24 hours are most important. The suprachi-asmatic nucleus of the hypothalamus is a primary circadian pacemaker in mammals; and light pulses out of all stimuli obtained by this structure have been mostly studied. The light pulses unrelated to visual perception serve as the most important synchronizers of circadian rhythms. Children with visual impairments lack adequate photic stimulation and hence circadian rhythm disorders develop and cognitive impairments worsen with a high probability. The most important types of sleep disorders in children with visual impairments are considered; their negative impact on a child's cognitive functions is discussed; possible correction approaches are laid down.

Objective: to study pregnancy and delivery characteristics in mothers who have given birth to infants with intrauterine growth restriction. Pregnancy and delivery outcomes were studied in 315 mothers who had given birth to infants with intrauterine growth restriction (a study group). The studies have shown that toxemia, anemia, and preeclampsia prevent physiological pregnancy that concurrent with placental insufficiency leads to serious metabolic disturbances in the mother-placenta-fetus system and eventually lead to intrauterine growth restriction. A set of pathological factors of pregnancy required surgical delivery in mothers with fetal growth restriction.

The diagnostic and prognostic values of individual markers for intranatal fetal hypoxia were estimated to identify reserves for reducing hypoxic CNS lesions in full-term newborns. A set of (clinical, ultrasonic, laboratory) studies was conducted in 102 women who had delivered via cesarean section during term delivery for progressive fetal hypoxia. Doppler abnormalities in the mother - placenta -fetus system showed low sensitivity when predicting hypoxic CNS lesions. The most important diagnostic and prognostic markers of intranatal fetal hypoxia leading to cerebral ischemia were as follows: fetal growth retardation with grade IB placental circulatory disorders; abnormal intranatal cardiotocography with lactic acidosis in amniotic fluid, thick meconium amniotic fluid.

Echocardiographic parameters were analyzed in newborn infants who had experienced cerebral ischemia. The patients were divided into 2 groups: 1) 30-50% packed cell volume; 2) 51-68% packed cell volume. Group 2 was found to have reductions in left ventricular linear dimensions and volume indices, which might suggest that there was a trend for higher rigidity and lower contractility of the myocardium. The findings of neonatal infants who have experienced cerebral ischemia and have a packed cell volume of more than 50% may be interpreted as the preclinical manifestations of myocardial dysfunction.

То establish the diagnostic value of a change in the indicator coenzyme Qlo, its blood levels were tested in 15 children with mitochondrial diseases (Group 1). A comparison group consisted of 13 children with neurodegenerative diseases (Group 2). A control group included 29 healthy children of the same age. In Group 1 patients, the mean coenzyme Qlo level (0,56+0,06 mcmol/1) did not differ from that in the control group. However, these patients had a considerably lower coenzyme Q10/cholesterol ratio (0,10+0,01; /K0,001). The patients in the older age subgroup were found to have a significantly lower coenzyme Qlo level, which seems to reflect the progressive nature of the abnormality. There was a trend for the coenzyme Q10/cholesterol ratio to decline with age. Group 2 children had higher blood coenzyme Qlo levels (1,53+0,23; /K0,001) than Group 1 and an increased Q10/cholesterol ratio (0,31+0,04; /K0,001). It is advisable to continue the investigation to provide a rationale for using low coenzyme values as an additional criterion for the differential diagnosis of mitochondrial diseases.

Mitochondrial DNA (mtDNA) has a polyploid structure, i.e. every cell contains thousands of mtDNA copies. However, in view of heredity or somatic mutations, mtDNA copies vary from one another (heteroplasmy). Moreover, heteroplasmy may occur at both the intracellular, intercellular, or even intertissue level. The tissue distribution of mtDNA variants is heterogeneous. The paper describes the results of mitochondrial genome primary sequencing carried out because of suspected mitochondrial encephalomyopathy. There is a need for further investigation of the pathogenetic value of mtDNA variants. Due to the fact that blood and buccal epithelial samples from each patient vary in the found mtDNA variants, it is very important to send a few samples from different tissues for sequencing.

Objective: to investigate the impact of incorporation of cycloferon into a therapy regimen on the efficiency of treatment for acute respiratory viral infections (ARVI) in frequently ill children. Subjects and methods. The results of treatment were analyzed in 117 children divided into three groups according to the therapy regimen. Thus, symptomatic and local antiviral therapies (interferon nasal ointment and viferon suppositories) were prescribed to all the children; furthermore, Group 1 (control) used antibiotic therapy; Group 2 (Comparison Group 1) took antibiotics and cycloferon (tablets), and Group 3 (Comparison Group 2) had Cycloferon. Results: At the beginning of treatment, there was a reduction in interferon-a and interferon-y values with preserved serum interferon levels, suggesting the diminished compensatory responses ensuring antiviral protection. Analysis of the immune status revealed that virtually half of the children exhibited activation of compensatory mechanisms (stimulation of CD4+ and CD8+ production and an increase in NST test activity), one third displayed a disturbance (decreases in CD4+, CDlfrf, IgA, and NST test activity). After treatment, interferonogenesis was recovered in the majority (86,7%) of the patients taking Cycloferon, in 74,1% of those who had a treatment regimen containing cycloferon and antibiotics, and only in 47,1 % of those who received antibiotics. Comparison of the immunological indicators during therapy with antibiotics alone or in combination with cycloferon demonstrated a more noticeable and balanced response to the latter: the normalized CD4+ and CD8+ values in the patients on antibiotic therapy was 8,9 and 5,8%, respectively, and 11,1 % in those who received antibiotics and cycloferon. Conclusion. Incorporation of cycloferon into ARVI treatment regimens for frequently ill patients has the positive effect on immunological indicators, which shows itself as recovery of initially diminished interferonogenesis (antiviral protection) and the use of cycloferon in combination with antibiotic therapy exerts an im-munomodulatory effect in causing more marked and balanced positive immunological changes.

In Ms/her practice, a pediatrician frequently faces ambiguous questions about foods for infants during the first year of life in particular. Not only parents ask pediatricians these questions - the latter naturally arise during work and attempts to pinpoint the problem of adequate nutrition during infancy. These questions are whether complementary foods containing starch cause allergy in an infant; gluten is a detrimental ingredient of infant foods; hydrolysis of cereal polysaccharides is essential; palm oil is dangerous to an infant's health; butter fat as an ingredient infant foods may be harmful to a child. Among other things, butter fat in globules is shown to contain phospholipids, gangliosides, cholesterol, which are essential for a child's development and absent in infant formulas. In this connection, addition of fat globule membranes to foods is promising in terms of the provision of an infant with lipids of full value. There is a need for further in-depth investigations of infant feeding practices, by keeping in mind numerous features of an infant's organism.

The article presents data on the prevalence, the most common causes, and clinical manifestations of iron-deficiency anemia (IDA) in children. The given clinical examples demonstrate the importance of consideration and competent interpretation of the existing clinical symptoms of anemia. Cases of delayed diagnosis of IDA developing in the presence of chronic gastrointestinal diseases are described.

Objective: to investigate the metabolic activity of the enteric microflora and the rate of milk protein sensitization during different types of feeding in healthy infants of Moscow. A total of 200 apparently healthy children were followed up. According to feeding patterns, there were 100 formula-fed babies (a study group) and 100 breast-fed ones (a comparison group). Subgroup 1 of the study group included 51 infants receiving formulas based on New Zealand goat's milk with prebiotics; Subgroup 2 consisted of 49 infants having formulas based on cow's milk-serum proteins with prebiotics. The metabolic activity of the enteric microflora was investigated by gas liquid chromatography; the concentrations of allergen-specific IgE and IgG antibodies against cow's and goat's milk proteins in coprofllrates were determined by noncompetitive enzyme immunoassay using special test systems (Allergopharma, Germany) before and during the ingestion of the formulas with prebiotics. The use of the formulas containing prebiotics led to increases in acetic acid and butyric acid concentrations and anaerobic index in both subgroups. However, their highest values in the coproflltrates were observed in Subgroup 1 and breast-fed infants. Analysis of allergen-specific IgE and IgC antibodies before formula indigestion showed that the level of latent sensitization to goat's milk protein was substantially lower than that to cow's milk protein (+ Class 1 and + Class 2, respectively). Subgroup 1 showed a more pronounced tendency to decrease the rate of latent sensitization to these types of protein. Thus, the most pronounced positive tendency in the examined indicators was observed in babies receiving breast milk or formulas based on New Zealand goat's milk with prebiotics.

То provide patients with specialized and high-tech medical care is the most important problem of practice healthcare at the present-day stage. This cannot be achieved without searching for new forms of interaction between the departments of medical universities and urban hospitals. The paper evaluates the efficiency of using the professional and teaching staff of the universities and practical healthcare workers in the educational and diagnostic-and-therapeutic process. Analysis of the activity of the University Clinic of Pediatrics and Childhood Infectious Diseases has demonstrated its high effectiveness. This makes it possible to set up similar structural entities on the base of the departments of medical universities and urban hospitals.

The paper describes the medical, scientific, and pedagogical activities of Academician of the USSR Academy of Medical Sciences, Honored Scientist of the RSFSR Mikhail Stepanovich Maslov (1885—1961). It emphasizes his role in the foundation of the Leningrad Pediatric Medical Institute. The distinguished scientist Mikhail Stepanovich Maslov made a great contribution to the development of Russian pediatrics.

The Pediatric Faculty of the Yaroslavl State Medical University (on the occasion of the 45th anniversary of its foundation)

The causes of psychological problems in children with micturition disorders are analyzed and social factors influencing quality of life in a child are considered. The study and understanding of the psychosocial aspects of micturition disorders in children are an important component in the structure of diagnosis and therapy of this pathology. Morbid self-perception in society contributes to further personality neurotization, social maladjustment, and emotional and neurotic disorders. The complexity is that psychological abnormalities may persist much longer even after micturition problems come to an end. The timely participation of a psychologist in patients' rehabilitation has a significant impact on the success of performed therapy.

Objective: to study the value of epidermal growth factor (EGF) in the serum and urine of patients with chronic pyelonephritis (CP) depending on the clinical form and features of the disease. Eighty patients aged 6 to 16 years, including 65 who were in clinical and laboratory remission, were examined. In addition to traditional nephrological examination, the serum and urinary levels of EGF, transforming growth factor-Pj (TGF-Pj), insulin-like growth factor-1 (IGF-1), and interleukins (IL)-4, IL-10, and IL-12 were determined by a standard set of solid-phase enzyme immunoassay. There was a statistically significant decrease in serum and urinary EGF level in children having a history of frequent CP exacerbations and a disease duration of more than 5-7 years. An antagonistic relationship was found between of EGF and the profibrotic cytokine TGF-Pj. On the contrary, EGF is strongly related to IGF-1 having antiapoptotic properties. In the patients with latent CP, the serum and urinary EGF levels were significantly lower than in those with recurrent CP. In patients with a history of transient hypoisostenuria, the serum level of EGF did not differ from the normal ones whereas its urinary level was significantly decreased. Conclusion. Significantly low serum and urinary EGF levels were noted in the patients who had an unfavorable disease and were although in clinical and laboratory remission documented by the clinical and laboratory examination traditionally accepted in nephrourological practice.

Kawasaki syndrome is a childhood systemic vasculitis that may affect coronary arteries, further leading to myocardial ischemia or myocardi-al infarction. This investigation is our country's first experience with regression analysis to find risk factors for coronary artery involvement in Kawasaki syndrome. The outpatient and inpatient medical records of 168 KD patients aged 1 month 13 days to 13 years 6 months were retrospectively analyzed. Results. The investigators revealed risk factors for coronary artery involvement: persistent fever; prolonged fever prior to immunoglobulin infusion; low hemoglobin in acute phase; leukocytosis more than 17* 109/l in acute phase; thrombocytosis more than 790-109/! and obviously increased erythrocyte sedimentation rate; a more than 5-fold rise in normal C-reactive protein; immunoglobulin administration after day 10; and no immunoglobulin therapy. The dose of immunoglobulin of 2 g/kg reduces the risk of coronary artery aneurysms, but its effect depends on the day of administration. Cervical lymphadenopathy and immunoglobulin resistance may be risk factors for coronary artery aneurysms, but further investigations are needed to solve this problem.

Objective: to reveal the specific features of kidney injury in children with juvenile rheumatoid arthritis (JRA) and to compare findings with the concentrations of serum amyloid A (SAA) precursor protein and the proinflammatory cytokines IL-ip, IL-6, and TNF-a. Results. Twenty (4,5%) of 44 patients aged 3 to 17 years were found to have systemic-onset JRA; 24 (54,5%) had articular-onset JRA. Twenty-six (59.1%) patients had normal urinalyses; 18 (40,9%) were diagnosed with proteinuria. All the 44 patients were ascertained to have elevated blood SAA protein concentrations. There were no statistically significant differences between the patients with systemic-onset JRA and those with articular-onset JRA in this indicator (333,7+55,2 and 227,3+39,5 mg/1, respectively). The increased blood concentrations of IL-ip and IL-6 were detected in 20 (45,5%) and 17 (38,6%) of the 44 patients. In the patients with systemic-onset JRA, the levels of IL-ip (91,2+18,1 pg/ml) and IL-6 (80,4+18,6 pg/ml) were established to be significantly higher than those (41,4+10,6 and 29,8+5,6 pg/ml, respectively) in the children with articular-onset JRA (/K0,05). Significantly higher serum levels of IL-ip (124,7+23,6 pg/ml) and IL-6 (102,4+27,8 pg/ml) were detected in the systemic-onset JRA patients having proteinuria than those (38,4+16,0 and 43,2+15,2 pg/ml, respectively) in the patients without the latter. The children with JRA showed moderate positive correlations between the elevated blood concentrations of SAA protein and IL-lp and between the blood levels of SAA and IL-6. The findings suggest that the proinflammatory cytokines play a role in maintaining the chronic inflammatory process and stimulating amyloidogenesis in children with JRA.

Fifty-six out of 79 pediatric patients with supratentorial brain tumors were noted to have symptomatic epilepsy. Dysembryoplastic neuroepithelial tumors (DNET), diffuse astrocytomas (DA), and gangliogliomas (GG) were the most epileptogenic tumors. Seizures were new-onset in all our noted cases of DNET and in 4 patients with GG and the only clinical tumor sign in 6 of 8 cases of DNET. The neuroimaging features of the MRI pattern of DNET, DA, and GG were an iso/hypointense signal on Tl-weighted magnetic resonance images and a signal, the intensity of which varied from heterogeneous to cerebrospinal fluid, on T2-weighted FLAIR images. Cases of DNET and GG displayed no mass effect or perifocal edema, a trend towards location in the temporoinsular regions, and a frequent concurrence with local gray-white matter differentiation disorders and atrophy. The FLAIR images clearly showed the so-called foam-like (multicystic) structure with pericystic changes. No significant change in the dimensions of the identified DNET and GG was observed during the follow up period. In low-grade DA, tumor growth was reduced and it is difficult to differentiate minimal perifocal edema from tumor-like tissue. The sensitivity of these tumors to contrast enhancement is ambiguous. Along with DNET (that was epileptogenic in 100% of cases), DA (91,7%) and GG (80%) were the most common epileptogenic brain tumors.

The purpose of establishing and maintaining a tuberous sclerosis registry is to collect data on the clinical manifestations and outcomes of the disease, and drug and non-drug interventions. The registry includes data on 303 people (156 men and 147 women) aged 4 months to 28 years who are diagnosed as having this disease. Most patients are the residents of Moscow and its Region (102/303; 33,6%). Thirty (9,9%) of the 303 patients are registered to have a family history of tuberous sclerosis. TSC1 and TSC2 gene mutations are detected in 29 (38,6%) and 46 (61,4%) patients, respectively. The TSC2 gene mutations previously undescribed in the world literature are found in 10 patients. There is epilepsy in 86,8% (263/303), intellectual developmental disorders in 39,3% (119/303), subependymal giant cell astrocytomas in 16,2% (49/303), tubers in 61% (81/131), subependymal nodules in 65,7% (86/131), hypopigmentation spots in 66,3% (201/303), facial angtofibromas in 29,4% (89/303), cardiac rhabdomyomas in 44,2% (134/303), and renal angiomyolipomas in 41,6% (126/303). West's syndrome is noted in 68 (25,9%) of the 262 epileptic patients; symptomatic focal epilepsy is seen in 149 (56,9%) patients. Seven patients took everolimus for subependymal giant cell astrocytomas. The registry demonstrates the late diagnosis of tuberous sclerosis, the limitation of genetic testing, and physicians' inadequate attention to the psychiatric manifestations of the disease.

Despite widespread vaccination, pertussis remains an important cause of infant morbidity and mortality. About 16 million people are ill with this disease and approximately 195 thousand children die worldwide every year. However, only 5—10% of all pertussis cases are diagnosed and notified. In spite of wide immunization coverage, there is really a pertussis epidemic in many countries of the world now; moreover, vaccinated children constitute a high proportion of disease cases. Adolescents and adults are a major reservoir for cyclic outbreaks of pertussis; however, they are rarely diagnosed with the disease. The review gives scientists' opinion on the causes of this phenomenon and proposed measures to reduce morbidity in different age groups. The severe and complicated forms of pertussis and fatal outcomes occur in babies during the first months of life and therefore current vaccination strategies should be aimed at preventing the infection just in this age group of children.

Cellular immunity indicators were investigated in infants with localized (и=10) and generalized (и=15) bacterial infections (sepsis). The blood levels of different groups of white blood cells (neutrophils, lymphocytes, monocytes) and lymphocyte subpopulations (CD3, CD4, CD8, CD16/56, and CD19) were estimated. The development of sepsis was accompanied by leukocytosis and leukopenia in 47 and 20% of the cases, respectively. In localized infections, there was leukocytosis in 30% of the infants and leukopenia in 10%. Absolute lymphopenia was present in 40% of the cases of sepsis and in 20% of those of localized infections. The acute period of neonatal sepsis was accompanied by a substantial reduction in the level of CD3+, CD4+, CD8+, and CD16/56+ lymphocyte subpopulations. The highest changes were recorded in the CD4+ and CD16/56+: their counts were decreased by an average of 3,9 and 3,6 times, respectively, compared to the control values; CD8+ lymphocytes dropped by 2,7 times. Localized infections were characterized by a predominant fall in the number of CD4+ and CD16/56+ subpopulations. Moreover, the level of CD4+ lymphocytes was significantly lower than that in the sepsis group. Thus, the acute period of both localized and generalized bacterial infections took place in the presence of cellular immunity suppression. The most marked changes were recorded in sepsis. The fi

The paper considers the types of chronic herpesvirus infection in children, which involves several serous membranes (polyserositis). It discusses possible pathogenetic mechanisms for the development of such manifestations of the disease.

The paper considers the topical problems arising in children with the most severe form of type I galactosemia. It describes the specific features of neonatal screening for galactosemia. Diagnostic criteria for the classic, clinical, and biochemical variants of galactosemia are presented. The basic characteristics of the clinical picture and late sequels of the disease are identified. Particular emphasis is placed on management tactics for ill children via dietary correction, complication treatments, preventive measures, and a follow-up.

Despite the fact that functional constipations are a common and hence relevant problem of pediatrics, there are difficulties in managing this category of patients. The paper presents the current guidelines for the diagnosis and treatment of functional constipation in children, which rely on the principles of evidence-based medicine. Particular attention is given to the age-related aspects of constipation in childhood.

Tills paper reviews an update on risk factors for hypertension in children and teenagers and on a role of endothelial dysfunction in the etiology and pathogenesis of the disease.

Critically ill neonates are at high risk for acute kidney injury (AKI). Objective: to estimate the clinical and diagnostic value of urinary neutrophil gelatinase-associated lipocalin (NGAL) 2, interleukin-18 (IL-18), and kidney injury molecule-1 (KIM-1) levels in diagnosing AKI in critically ill full-term newborn infants. Subjects and methods. A study group consisted of 86 critically ill full-term neonates who were divided into 2 subgroups according to their blood creatinine levels at the age of less than 2 days of life: 1) creati-nine >1,5 mg/dl (и=12) and 2) creatinine <1,5 mg/dl (и=74). A control group included 26 healthy full-term newborns. Results. The incidence of AKI was 14%. Its clinical sign was urine output less thanl, 5 ml/kg/h(/K0,001). On days 3—5 of life, Subgroup 1 showed urinary NGAL values that were twice higher than those in Subgroup 2; on days 10-14, there was a 1,5-fold decrease in this indicator, but it remained at a rather high level in the control group. On days 3-5 of life, the levels of urinary KIM-1 were thrice higher in Subgroup 1 than those in Subgroup 2; on days 18—21, the difference between them was almost 7 times higher (/K0,01). On days 3—5 of life, Subgroup 1 displayed urinary IL-18 values that were twice higher than those in Subgroup 2; on days 18—21, the difference remained at the same level (/K0,05). Conclusion. Determination of urinary NGAL, IL-18, and KIM-1 levels is recommended for the early non-invasive diagnosis of AKI in critically ill full-term neonates. Urinary NGAL and KIM-1 are markers of poor outcomes; IL-18 is a marker of the aggressive nephrotoxicity of the therapy performed.

The article presents the results of a study of the levels of zinc, chromium, and strontium in the venous red blood cells and plasma of 134 newborn infants at different gestational ages and in those of their mothers. The results suggest that transmembrane and trans-placental zinc transport is impaired in premature infants and their mothers.

Clinical and laboratory examinations were made in 56 children aged 1 to 16 years; out of them, 22 children were diagnosed as having nephrocalcinosis, 11 had nephrolithiasis in the presence of hypercalciuria, and 23 were found to have hypercalciuria without concrements and calcifications being formed in the urinary organs. The associations of single-nucleotide polymorphisms rs4987682 Thr681Met, rs4987667 Val378Met, rs4987657 Cysl57Arg of a gene calcium vanilloideae membrane channel TRPV6, rsl04893723 Glyl98Asp of a gene protein of dense intercellular contacts CLDN16, rsl3324142 Vall85Met of a gene union transporter SLC26A6 with the development of hypercalciuria, nephrolithiasis, and nephrocalcinosis were studied in children. TRPV6 gene polymorphism was is associated with the risk of nephrolithiasis and nephrocalcinosis in children with hypercalciuria. The predisposing factors were a homozygous genotype for the T-allele (TT) polymorphism rs4987682 C2042TThr681Met TRPV6 gene and genotype AA polymorphism rs4987667 G1132A Val378Met TRPV6 gene. Examination of bone mineral density in children with hypercalciuria revealed osteopenia in 45% of the cases, which increased the risk of fractures.

Galactosemia is a rare life-threatening inherited autosomal recessive disease, the differential diagnosis of which has been very difficult up to date, especially if there are no results of neonatal screening for some reasons. The paper describes a clinical case of a 10-day patient with type I classic galactosemia and reflects the importance of a timely diagnostic search and switching him to lactose-free formulas.