Purpose: to analyze the structure of hereditary pathology and the results of genetic studies in children in a specialized clinic.Results.1045 children from 79 regions of the Russian Federation were examined and treated in the pediatric department of congenital and hereditary diseases in 2018. There were 25% of patients from Moscow and Moscow region and 75% from other territories. After examination all patients were divided into 2 large cohorts: patients with hereditary diseases diagnosed by clinical and laboratory data (737 children; 70%) and patients with undifferentiated pathological conditions with unclear genesis at the time of discharge from the hospital (308 children; 30%). In the cohort of hereditary diseases there were the most numerous (about 100 children in each) groups of patients with Ehlers–Danlos syndrome, imperfect osteogenesis and rare heterogeneous genetic syndromes. The groups of rickets- like diseases, chromosomal syndromes and Rett syndrome included 50-70 patients. Other groups were smaller. Half of the hospitalized patients required genetic analysis. The highest percentage of molecular genetically / cytogenetically confirmed diagnoses was found in the groups of chromosomal diseases, rare genetic syndromes of lysosomal and mitochondrial diseases, Rett syndrome, and aminoacidopathy. It is worth mentioning that a primary diagnosis was not established during a genetic study in 57 children (18%) children from the general cohort of patients with hereditary diseases, so the researchers used other methods of analysis or bioinformatic revision of the results.Conclusion: The authors found a large variety of genetic diseases in children requiring examination and treatment in a specialized hospital. 1/5 of the examined children require additional genetic testing or repeated bioinformatic interpretation of the data.
С реди наследственных дефектов обмена углеводов особое место занимают болезни накопления гликогена, или гликогенозы. Гликоген-высокомолекулярный полисахарид, образованный остатками глюкозы, главная форма запасания углеводов у животных и один из основных источников энергии [1]. Термин «гликогенозы» объединяет ряд генетически обусловленных заболеваний, при которых наблюдается нарушение синтеза, мобилизации или деградации гликогена и отложение его в неизмененном виде или в виде нефизиологических форм в различных органах и тканях. Наиболь
Статья посвящена редкой патологии из группы болезней накопления с аутосомно-рецессивным типом наследования - муколипидозу IIIA типа у больных, представителей коренного населения Республики Тыва. Обследованы 10 детей с этим редким заболеванием. Показаны основные клинические симптомы болезни; представлены 3 последовательных этапа диагностических мероприятий, на основании которых у всех больных была обнаружена новая нуклеотидная замена с.3169T>G; Cys1057Gly в экзоне 16 гена GNPTAB. Выявленная замена обнаружена у всех больных в гомозиготном состоянии. Высказано предположение, что данный вариант замены является следствием эффекта родоначальника и его носительство характерно только для тувинцев. Для эффективного медико-генетического консультирования тувинских семей рекомендуется популяционное обследование коренного населения Республики на носительство мутантного аллеля гена GNPTAB. The article is devoted to a rare pathology from the group of accumulation diseases with an autosomal recessive type of inheritance - type IIIA mucolipidosis in patients of the indigenous population of the Republic of Tyva. Ten children with this rare disease were examined. The main clinical symptoms of the disease are shown; 3 consecutive stages of diagnostic measures are presented, on the basis of which a new nucleotide substitution c. 3169T> G was found in all patients; Cys1057Gly in exon 16 of the GNPTAB gene. Revealed replacement was found in all patients in a homozygous state. It has been suggested that this option of replacement is a consequence of the effect of the ancestor and its carriage is characteristic only of persons of Tuvan nationality. For effective medical and genetic counseling of Tyva families, a population survey of the indigenous population of the Tuvan Republic on the carriage of the mutant GNPTAB gene is recommended.
The term «homocystinuria» combines a number of genetically determined nosological forms caused by defects of the metabolism of sulfur-containing amino acids (methionine, homocysteine), cobalamin and folate. The group of these diseases includes «classical» homocystinuria caused by insufficiency of cystathionine beta-synthase and forms associated with defects in methionine remethylation processes. More information is given about one of these forms — homocystinuria and megaloblastic anemia, type cblG, caused by MTR gene mutations. The results of observation of a child with this disease are presented. The clinical status includes: intellectual disability, autistic behavioral traits, stereotypes, nystagmus, visual impairment, macrocytic anemia, epilepsy in remission. Effective treatment requires the use of medications not registered in the Russian Federation — betaine and hydroxocobalamin.
The Classic Ehlers–Danlos syndrome (cEDS) is an autosomal dominant hereditary disease caused by type V collagen defect. The incidence of pathology is estimated at 1:20,000 of the population. The results of a long-term (15 years) follow-up of a group of patients (n=18) with cEDS, including 5 boys and 13 girls aged from 3 to 18 years, are presented. The diagnosis was made based on the presence of 2 large and 5 small international diagnostic criteria in all patients. The progreduated character of the disease is shown, which is most obvious in the dynamics of the state of the musculoskeletal system. Genetic verification of the diagnosis was performed in 6 patients; 5 probands had mutations in the COL5A1 gene, and one in the COL5A2 gene. Mutations already registered in the database were detected only in 2 children. Previously unknown substitutions were found in 4 patients. The article presents the issues of differential diagnosis of this severe pathology and touches upon the issue of continuity between medical pediatric specialists and doctors of various specialties working with the adult population.
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