Donnai–Barrow syndrome in nephrology practice
Donnai–Barrow syndrome is a multi-system disorder characterized by a variable combination of congenital anomalies, progressive myopia, sensorineural hearing loss, intellectual disability and renal disease. The article describes clinical cases of children with different phenotypes of the syndrome, in...
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2021-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1346 |
| _version_ | 1797875133411491840 |
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| author | M. E. Aksenova N. M. Zaikova T. V. Lepaeva V. V. Dlin |
| author_facet | M. E. Aksenova N. M. Zaikova T. V. Lepaeva V. V. Dlin |
| author_sort | M. E. Aksenova |
| collection | DOAJ |
| description | Donnai–Barrow syndrome is a multi-system disorder characterized by a variable combination of congenital anomalies, progressive myopia, sensorineural hearing loss, intellectual disability and renal disease. The article describes clinical cases of children with different phenotypes of the syndrome, including different renal disorders. One patient had isolated low-molecular-weight proteinuria, another patient suffered from proteinuria, hypercalciuria, nephrocalcinosis. Disruption of megaline-mediated endocytosis, retrograde endosomal transport of ligands, mitochondrial dysfunction, stress of the endoplasmic reticulum can lead to a different spectrum and various degrees of severity of tubular dysfunction in Donnai-Barrow syndrome. A variety of clinical manifestations of the disease can lead to a low diagnosis of Donnai-Barrow syndrome and inadequate patient management. |
| first_indexed | 2024-04-10T01:42:52Z |
| format | Article |
| id | doaj.art-dca0be1bb43a4191ba5c9a4bc5de9531 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:42:52Z |
| publishDate | 2021-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-dca0be1bb43a4191ba5c9a4bc5de95312023-03-13T09:12:50ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282021-03-0166110611210.21508/1027-4065-2021-66-1-106-1121009Donnai–Barrow syndrome in nephrology practiceM. E. Aksenova0N. M. Zaikova1T. V. Lepaeva2V. V. Dlin3ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииDonnai–Barrow syndrome is a multi-system disorder characterized by a variable combination of congenital anomalies, progressive myopia, sensorineural hearing loss, intellectual disability and renal disease. The article describes clinical cases of children with different phenotypes of the syndrome, including different renal disorders. One patient had isolated low-molecular-weight proteinuria, another patient suffered from proteinuria, hypercalciuria, nephrocalcinosis. Disruption of megaline-mediated endocytosis, retrograde endosomal transport of ligands, mitochondrial dysfunction, stress of the endoplasmic reticulum can lead to a different spectrum and various degrees of severity of tubular dysfunction in Donnai-Barrow syndrome. A variety of clinical manifestations of the disease can lead to a low diagnosis of Donnai-Barrow syndrome and inadequate patient management.https://www.ped-perinatology.ru/jour/article/view/1346детисиндром донна–барроумегалинмиопиясиндром фанконинизкомолекулярная протеинуриягиперкальциуриянефрокальциноздент-подобная тубулопатия |
| spellingShingle | M. E. Aksenova N. M. Zaikova T. V. Lepaeva V. V. Dlin Donnai–Barrow syndrome in nephrology practice Rossijskij Vestnik Perinatologii i Pediatrii дети синдром донна–барроу мегалин миопия синдром фанкони низкомолекулярная протеинурия гиперкальциурия нефрокальциноз дент-подобная тубулопатия |
| title | Donnai–Barrow syndrome in nephrology practice |
| title_full | Donnai–Barrow syndrome in nephrology practice |
| title_fullStr | Donnai–Barrow syndrome in nephrology practice |
| title_full_unstemmed | Donnai–Barrow syndrome in nephrology practice |
| title_short | Donnai–Barrow syndrome in nephrology practice |
| title_sort | donnai barrow syndrome in nephrology practice |
| topic | дети синдром донна–барроу мегалин миопия синдром фанкони низкомолекулярная протеинурия гиперкальциурия нефрокальциноз дент-подобная тубулопатия |
| url | https://www.ped-perinatology.ru/jour/article/view/1346 |
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