Kidney cystosis in tuberous sclerosis in infants
The tuberous sclerosis is a systemic orphan disease. According to the literature data, the article summarizes the clinical and genetic features, presents the large and small criteria for the tuberous sclerosis diagnostics in children. The authors provide the comprehensive description of the kidney p...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2018-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/627 |
| _version_ | 1797875254839738368 |
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| author | E. F. Andreeva N. D. Savenkova |
| author_facet | E. F. Andreeva N. D. Savenkova |
| author_sort | E. F. Andreeva |
| collection | DOAJ |
| description | The tuberous sclerosis is a systemic orphan disease. According to the literature data, the article summarizes the clinical and genetic features, presents the large and small criteria for the tuberous sclerosis diagnostics in children. The authors provide the comprehensive description of the kidney pathological condition specific for the tuberous sclerosis, which complicates considerably the course and determines the disease prognosis. The clinical observation of two tuberous sclerosis cases in the infants with very early detection of the polycystic kidney disease, quick growth of the kidney cysts and increase of the kidney volume, with formation of the nephrogenic arterial hypertension is presented. The TSC2/PKD1 syndrome (“adjacent gene syndrome”), which is a consequence of the simultaneous mutation of the adjacent genes on the short arm of chromosome 16, is the most probable in both cases. |
| first_indexed | 2024-04-10T01:43:37Z |
| format | Article |
| id | doaj.art-9e0625714aee4b019f525f45566f0ff0 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:43:37Z |
| publishDate | 2018-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-9e0625714aee4b019f525f45566f0ff02023-03-13T09:12:44ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282018-03-0163110010510.21508/1027-4065-2018-63-1-100-105556Kidney cystosis in tuberous sclerosis in infantsE. F. Andreeva0N. D. Savenkova1ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения Российской Федерации, Санкт-ПетербургФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения Российской Федерации, Санкт-ПетербургThe tuberous sclerosis is a systemic orphan disease. According to the literature data, the article summarizes the clinical and genetic features, presents the large and small criteria for the tuberous sclerosis diagnostics in children. The authors provide the comprehensive description of the kidney pathological condition specific for the tuberous sclerosis, which complicates considerably the course and determines the disease prognosis. The clinical observation of two tuberous sclerosis cases in the infants with very early detection of the polycystic kidney disease, quick growth of the kidney cysts and increase of the kidney volume, with formation of the nephrogenic arterial hypertension is presented. The TSC2/PKD1 syndrome (“adjacent gene syndrome”), which is a consequence of the simultaneous mutation of the adjacent genes on the short arm of chromosome 16, is the most probable in both cases.https://www.ped-perinatology.ru/jour/article/view/627детитуберозный склерозкистыпочкигены tsc1tsc2pkd1 |
| spellingShingle | E. F. Andreeva N. D. Savenkova Kidney cystosis in tuberous sclerosis in infants Rossijskij Vestnik Perinatologii i Pediatrii дети туберозный склероз кисты почки гены tsc1 tsc2 pkd1 |
| title | Kidney cystosis in tuberous sclerosis in infants |
| title_full | Kidney cystosis in tuberous sclerosis in infants |
| title_fullStr | Kidney cystosis in tuberous sclerosis in infants |
| title_full_unstemmed | Kidney cystosis in tuberous sclerosis in infants |
| title_short | Kidney cystosis in tuberous sclerosis in infants |
| title_sort | kidney cystosis in tuberous sclerosis in infants |
| topic | дети туберозный склероз кисты почки гены tsc1 tsc2 pkd1 |
| url | https://www.ped-perinatology.ru/jour/article/view/627 |
| work_keys_str_mv | AT efandreeva kidneycystosisintuberoussclerosisininfants AT ndsavenkova kidneycystosisintuberoussclerosisininfants |