COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES
The review summarizes clinical features, biochemical and molecular-genetic characteristics, laboratory and instrumental indicators, as well as approaches to the treatment of ricket-like diseases: vitamin D-dependent rickets, renal tubular acidosis, de Toni-DebreFanconi syndrome. Differential diagno...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2018-06-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/668 |
| _version_ | 1797875219013042176 |
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| author | T. Yu. Proshlyakova T. S. Korotkaya S. Yu. Kuznetsova |
| author_facet | T. Yu. Proshlyakova T. S. Korotkaya S. Yu. Kuznetsova |
| author_sort | T. Yu. Proshlyakova |
| collection | DOAJ |
| description | The review summarizes clinical features, biochemical and molecular-genetic characteristics, laboratory and instrumental indicators, as well as approaches to the treatment of ricket-like diseases: vitamin D-dependent rickets, renal tubular acidosis, de Toni-DebreFanconi syndrome. Differential diagnosis of this disease group is associated with a number of difficulties, the main of which are a fairly low frequency of certain forms occurrence and a strong resemblance with other diseases, that disrupt the metabolism, associated with the influence of many hereditary and external factors. Establishing an accurate diagnosis is important not only for correct and timely treatment, but also for medical-genetic family counseling and genetic risk calculation, since different disease forms have different inheritance types. A competent and timely diagnosis should be based on knowledge of the distinctive features of very similar diseases. The data described in this article can be used by doctors at all stages of the patient survey. |
| first_indexed | 2024-04-10T01:43:07Z |
| format | Article |
| id | doaj.art-0e3b863468dc4183b5b0d71b0ce1669c |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:43:07Z |
| publishDate | 2018-06-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-0e3b863468dc4183b5b0d71b0ce1669c2023-03-13T09:12:45ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282018-06-01633192510.21508/1027-4065-2018-63-3-19-25585COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASEST. Yu. Proshlyakova0T. S. Korotkaya1S. Yu. Kuznetsova2ФГБНУ Медико-генетический научный центрФГБНУ Медико-генетический научный центрОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГБОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава РоссииThe review summarizes clinical features, biochemical and molecular-genetic characteristics, laboratory and instrumental indicators, as well as approaches to the treatment of ricket-like diseases: vitamin D-dependent rickets, renal tubular acidosis, de Toni-DebreFanconi syndrome. Differential diagnosis of this disease group is associated with a number of difficulties, the main of which are a fairly low frequency of certain forms occurrence and a strong resemblance with other diseases, that disrupt the metabolism, associated with the influence of many hereditary and external factors. Establishing an accurate diagnosis is important not only for correct and timely treatment, but also for medical-genetic family counseling and genetic risk calculation, since different disease forms have different inheritance types. A competent and timely diagnosis should be based on knowledge of the distinctive features of very similar diseases. The data described in this article can be used by doctors at all stages of the patient survey.https://www.ped-perinatology.ru/jour/article/view/668детирахитоподобные заболеваниятубулопатиивитамин d-зависимый рахитпочечный канальцевый ацидозсиндром де тони–дебре–фанкони |
| spellingShingle | T. Yu. Proshlyakova T. S. Korotkaya S. Yu. Kuznetsova COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES Rossijskij Vestnik Perinatologii i Pediatrii дети рахитоподобные заболевания тубулопатии витамин d-зависимый рахит почечный канальцевый ацидоз синдром де тони–дебре–фанкони |
| title | COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES |
| title_full | COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES |
| title_fullStr | COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES |
| title_full_unstemmed | COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES |
| title_short | COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES |
| title_sort | comparative characteristics of rickets like diseases |
| topic | дети рахитоподобные заболевания тубулопатии витамин d-зависимый рахит почечный канальцевый ацидоз синдром де тони–дебре–фанкони |
| url | https://www.ped-perinatology.ru/jour/article/view/668 |
| work_keys_str_mv | AT tyuproshlyakova comparativecharacteristicsofricketslikediseases AT tskorotkaya comparativecharacteristicsofricketslikediseases AT syukuznetsova comparativecharacteristicsofricketslikediseases |