The first results of tuberous sclerosis registry
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 a...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2016-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/165 |
| _version_ | 1797875332907270144 |
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| author | M. Yu. Dorofeeva E. D. Belousova A. M. Pivovarova B. A. Kobrinsky M. A. Podolnaya L. I. Shagam A. V. Polyakova E. N. Imyanitov E. Yu. Zakharova |
| author_facet | M. Yu. Dorofeeva E. D. Belousova A. M. Pivovarova B. A. Kobrinsky M. A. Podolnaya L. I. Shagam A. V. Polyakova E. N. Imyanitov E. Yu. Zakharova |
| author_sort | M. Yu. Dorofeeva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:45:59Z |
| format | Article |
| id | doaj.art-c4b350070bd64505b2db92f13d62ddab |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:45:59Z |
| publishDate | 2016-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-c4b350070bd64505b2db92f13d62ddab2023-03-13T09:12:40ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-03-01605113120158The first results of tuberous sclerosis registryM. Yu. Dorofeeva0E. D. Belousova1A. M. Pivovarova2B. A. Kobrinsky3M. A. Podolnaya4L. I. Shagam5A. V. Polyakova6E. N. Imyanitov7E. Yu. Zakharova8ОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБУ «НИИ онкологии им.Н.Н. Петрова» Минздрава России; ФГБНУ «Медико-генетический научный центр», МоскваThe 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.https://www.ped-perinatology.ru/jour/article/view/165детитуберозный склерозрегистрмониторинггенетикачастота симптомовсубэпендимальные гигантоклеточные астроцитомыангиомиолипомы почек. |
| spellingShingle | M. Yu. Dorofeeva E. D. Belousova A. M. Pivovarova B. A. Kobrinsky M. A. Podolnaya L. I. Shagam A. V. Polyakova E. N. Imyanitov E. Yu. Zakharova The first results of tuberous sclerosis registry Rossijskij Vestnik Perinatologii i Pediatrii дети туберозный склероз регистр мониторинг генетика частота симптомов субэпендимальные гигантоклеточные астроцитомы ангиомиолипомы почек. |
| title | The first results of tuberous sclerosis registry |
| title_full | The first results of tuberous sclerosis registry |
| title_fullStr | The first results of tuberous sclerosis registry |
| title_full_unstemmed | The first results of tuberous sclerosis registry |
| title_short | The first results of tuberous sclerosis registry |
| title_sort | first results of tuberous sclerosis registry |
| topic | дети туберозный склероз регистр мониторинг генетика частота симптомов субэпендимальные гигантоклеточные астроцитомы ангиомиолипомы почек. |
| url | https://www.ped-perinatology.ru/jour/article/view/165 |
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