Introduction. Krabbe disease (KD) is the lysosomal storage disease developed due to the decline of the galactocerebrosidase activity associated with mutations in the GALC gene. It leads to the development of oligodendrocytes and lemmocytes (Schwann cells) myelin-forming dysfunction. Nowadays the only possible treatment of KD is hemopoietic cell transplantation which should be performed before the manifestation of any signs of disease. That is why laboratory diagnostics has special significance. The aim of the study. To elaborate the algorithm of a molecular diagnostics of the Krabbe disease (KD) in Russian children. Material and methods. 190 patients were diagnosed for the exclusion of KD during the period from 2012 to 2019. In all cases, there was measured a galactocerebrosidase activity in dry blood spots. In cases with the declined enzyme activity, there was performed a further search of pathogenic variants in the GALC gene. The concentration of glycosyl sphingosine (Lyso-GL1) biomarker was measured in 90 patients included in the study since 2016. Results. The enzyme activity was decreased in all patients in comparison with the control group (0.33±0.05; 2.95±0.24 µmol/l/h, ( p G, c.1036del and c.2037_2040del . Conclusion. The Lyso-GL1 concentration measurement can be used as an additional diagnostics method of KD. The high efficiency of the presented algorithm for the KD diagnostics in Russian children is presented.

Innovative technologies in the reanimation and intensive therapy permitted to improve the survival of premature infants, including those with extremely low birth weight infants. There are considered various issues of practical medical care for very-low-birth weight infants in the first three years of life. The special attention is given to patients with bronchopulmonary dysplasia (BPD). There is briefly presented the own authors’ experience of the observation for premature infants in conditions of a multidisciplinary team care approach. There were described such important aspects of the mentioned category of patients as neurodietology/nutritional rehabilitation, compliance with aseptic environmental conditions, the correction of visual and hearing impairment, treatment of neurological deficit, especially neuropharmacology, treatment of paroxysmal disorders and epilepsy.

The article focuses on Global Consensus recommendations on prevention and management of nutritional rickets (2016), created by 33 foreign experts, representing 11 pediatric communities from 18 countries. Positive and negative aspects of these Consensus recommendations are reviewed and carped when necessary. The need for the development of Russian national consensus on rickets prevention and management is noted.

CDG Ib type is a rare autosomal recessive disorder (OMIM 154550) manifesting as coagulopathy, hypoglycemia, enteropathy, liver damage, delayed physical development etc. Approximately 20 cases of CDG Ib are described world-wide, being one of two CDG types, responding to treatment (along with CDG IIc type). CDG Ib is caused by a mutation in mannose-6-phosphate isomerase. Then, mannose-6-phosphate for protein N-glycosylation can only be synthesised from outside sources mannose. Treatment with d-mannose is the only described therapy for CDG Ib. We have extablished the diagnosis in 2 patients. Patient 1 was a 9 months old girl with exudative enteropathy, hypoproteinemia, ascites, liver fibrosis, malabsorption, multiple deficiency syndrome, hypoglycemia, coagulopathy with low antithrombin III and protein C, and right atrium thrombosis. Patient 2 was a 10 months old boy with severe physical delay and liver damage. Coagulogram studies showed low antithrombin III/protein C levels. The diagnosis was proved by molecular genetics and biochemistry in both cases. Mutation in mannose-6-phospahte isomerase gene (Ar219Trp – R219W) and abnormally structured glycoproteins (transferrin, α1-antitrypsin, haptoglobin) were discovered in patient 1. Mutation c.1252T>C in homozygotic state was found in MPI gene of patient 2. Treatment with d-mannose (150 mg/kg) resulted in stool normalisation, albumin, glucose, antithrombin III and protein C levels’ increase, intoxication symptoms and clot’s disappearance in 2 weeks. Frequent episodes of acute respiratory infections with manifested CDG symptoms demanded the increase of d-mannose (up to 230 mg/kg). The therapy revealed no side effects. Normal glucose, albumin and antithrobmin III were the criteria for adequate dose selection. We conclude that CDG Ib should be considered in patients with unexplained chronic diarrhoea, hypoglycemia, liver pathology, thromboses/haemorrhages, allowing early diagnostics/effective management for this rare disorder.

Background: There are few data on co-occurring with bronchopulmonary dysplasia diseases but there is no single point of view on their mutual effect.Objective: Our aim was to learn the structure and frequency of extrapulmonary disease, concomitant of bronchopulmonary dysplasia, in children aged up to 3 years.Methods. A retrospective analysis of histories of 93 children with bronchopulmonary dysplasia with an analysis of the consequences of perinatal pathology structure was carried out.Results. On average, each patient with bronchopulmonary dysplasia accounted for 5 comorbidities. The most common (89; 96%) were perinatal lesions of the nervous system and their consequences. In children with bronchopulmonary dysplasia at the age of 3 years there was a relatively low incidence of hydrocephalus and, on the contrary, high — of infantile cerebral palsy. Violations of the organs of vision were found in 58 (62%) children, malnutrition and other violations of physical development — in 58 (62%) and 27 (29%), respectively, and the cardiovascular system pathology — in 59 (63%).Conclusion. The most commonly, extrapulmonary pathology, co-occuring with bronchopulmonary dysplasia, includes neurological deficit with psychomotor retardation, violations of organs of vision, pathology of the cardiovascular system, malnutrition/delay in physical development.

Malnutrition is widely spread among infants with severe, especially chronic pathology. Effective treatment of the underlying disease is impossible without adequate diet therapy that includes clinical nutritive products with specially designed composition. Rational feeding positively influences metabolic processes and adds to body mass gain.Key words: malnutrition, hypotrophy, infants, special clinical nutrition, short-life proteins.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (4): 119–125)

Malnutrition is widely spread among infants with severe, especially chronic pathology. Effective treatment of the underlying disease is impossible without adequate diet therapy that includes clinical nutritive products with specially designed composition. Rational feeding positively influences metabolic processes and adds to body mass gain. Key words: malnutrition, hypotrophy, infants, special clinical nutrition, short-life proteins. (Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (4): 119–125 )

The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N or O glycosylation. Manifestations of the disease are protein losing enteropathy and severe developmental delay, hypoglycemia, co agulopathy (thrombosis), liver injury. glycosylation disorder syndrome type 1b differs from other types of this group absence of the neurologic semiology and efficiency of therapy by mannose.Key words: glycoproteins, glycosylation disorders, manifestations, mannose, children.