Search Results - Natalia V. Zhurkova
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Psychoneurological Disorders in Children with Congenital Aniridia and <i>PAX6</i>-Associated Syndromes
Published 2023-08-01Get full textCongenital aniridia manifests with total or partial absence of the iris. The association of the disease with the PAX6 gene has been proven. Changes in the PAX6 structure lead to intrauterine pathology, visual organ malformation, malformation of master regulator proteins of organogenesis affecting va...
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Sodium-Dependent Glucose Transporter Type 2 Inhibitors as a Breakthrough in Neutropenia and Neutrophil Dysfunction Management in Patients with Glycogen Storage Disease Type Ib
Published 2024-07-01Get full textGlycogen storage disease type Ib (GSD Ib) is a rare and extremely severe disease included in the group of hereditary carbohydrate metabolism disorders. The condition is caused by pathogenic variants in the SLC37A4 gene leading to glucose metabolic disorder in the liver and kidneys, and as a result t...
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Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Published 2021-03-01Get full textBackground. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation. The GAG accumulation in lysosomes leads to dysfu...
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Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)
Published 2023-01-01Get full textMucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase. This enzyme deficiency leads to specific glycosaminoglycans (keratan sulfate and chondroitin-6sulfate) accumulation mainly in the bone an...
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Modern Approach to Fabry Disease Diagnosis and Management in Children
Published 2024-02-01Get full textFabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopath...
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GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice
Published 2021-01-01Get full textBackground. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell death. The major clinical signs of this disease are r...
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The Course of Dyskeratosis Congenita Masked by Crohn’s Disease in a Primary School-Age Child: Case Report
Published 2024-12-01Get full textBackground. Dyskeratosis congenita (DC) is an extremely rare genetically determined syndrome associated with the formation of bone marrow depression and clinically manifested by abnormal pigmentation of the skin, onychodystrophy, cobble-stone tongue, damage to the gastrointestinal tract, lungs, etc....
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Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases
Published 2019-09-01Get full textMucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meant...
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Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report
Published 2023-12-01Get full textBackground. Hurler syndrome (mucopolysaccharidosis, type I) is a rare hereditary disease with chronic course. The main methods for Hurler syndrome management are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, combination treatment (ERT administr...
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Clinic Case of Rare Type VI Osteogenesis Imperfecta
Published 2019-04-01Get full textOsteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology...
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Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review
Published 2023-01-01Get full textCongenital mitochondrial fatty acid beta-oxidation disorders are a heterogeneous group of metabolic disorders characterized by impaired fatty acid metabolism in mitochondria. It results in central nervous system, skeletal muscle, cardiovascular system, and liver damage, as well as the development of...
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Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results
Published 2022-10-01Get full textBackground. Hemostatic system pathology is topical and poorly studied issue in pediatrics. One of the main causes of coagulation pathway disorders associated with thrombotic events is abnormality in various parts of the hemostatic system. Vascular accidents are commonly caused by anticoagulation sys...
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Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Published 2020-02-01Get full textMucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous syste...
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Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases
Published 2020-06-01Get full textMucopolysaccharidosis type I mild forms include Scheie syndrome and Hurler-Scheie syndrome that are characterized by slow progression, intact intelligence, and primarily effect on visual organ, musculoskeletal and cardiovascular systems. Early diagnostics, multidisciplinary approach to examination a...
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Alfa-mannosidosis: Frequent Symptoms in Rare Patient
Published 2023-01-01Get full textBackground. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation....
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Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case
Published 2020-11-01Get full textBackground. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such pathology are even less often. Clinical case desc...
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THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES
Published 2018-05-01Get full textBackground. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic compli...
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Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II
Published 2021-12-01Get full textMucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S). The main treatment scheme for children with MPS II is enzyme replacement therapy (ERT) with recombinant huma...
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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case
Published 2023-01-01Get full textBackground. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ qual...
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How to Distinguish Attenuated Forms of Mucopolysaccharidosis and Articular Forms of Juvenile Arthritis: Development of Diagnostic Algorithm Based on the Data from Multicenter Retro...
Published 2023-01-01Get full textBackground. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities.Objective. The aim of the study is to create simple diagnostic criteria (DScore) that would allow to differentiate MPS from JIA f...
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