SYNDROMAL APPROACH IN THE DIAGNOSIS OF HEREDITARY DISEASES (LECTURE)
https://doi.org/10.57256/2949-0715-2023-4-85-94
Abstract
The number of nosologic units of hereditary pathology is, according to Online Mendelian Inheritance in Man, about 16,000 syndromes (and their corresponding genes). Before starting diagnostics, it is necessary to make sure that the disease is genetically determined, using such signs as the familial and congenital nature of the pathology, progressive chronic course, multiplicity of pathological changes in organs and systems, resistance to known meth-ods of therapy. For effective diagnosis, it is necessary to use the assessment of minor and major developmental anomalies, as well as a syndromic approach. The syndromic approach is used to diagnose functional and anatomical syndromes that accompany hereditary diseases. This allows you to narrow the range of diseases to the use of labora-tory and instrumental research methods, and most accurately formulate a preliminary diagnosis for DNA diagnostics.
Diagnosis of hereditary pathology is a rather complex problem because the number of nosologic forms is large, and the final diagnosis is determined using expensive DNA diagnostics. In this regard, the possibility of using a syn-dromic approach in clinical diagnosis comes to the fore.
About the Authors
Elena A. Tkachuk
Irkutsk State Medical University, Scientific Center for Problems of Family Health and Human Reproduction
Russian Federation
Russian Federation
Igor Zh. Seminsky
Irkutsk State Medical University
Russian Federation
Russian Federation
References
1. Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 2023. https://www.omim.org/help/copyright [accessed: 02.10.2023].
2. Медицинская генетика: национальное руководство. Под ред. Гинтера Е.К., Пузырева В.П., Куцева С.И. Москва:ГОЭТАР-Медиа;2022. [Medical genetics: national guidelinesю Ed. Ginter E.K., Puzyrev V.P., Kutsev S.I. Moscow: GOETAR-Media;2022 (In Russian)]. DOI: 10.33029/9704-6307-9-GEN-2022-1-896
3. Мелешкина А.В., Чебышева С.Н., Бурдаев Н.И. Малые аномалии развития у детей. Диагностика и возможности профилактики. Consilium Medicum. 2015;17(6):68–72. [Meleshkina A.V., Chebysheva S.N., Burdaev N.I. Minor malformations in children. Diagnosis and possibilities of prevention. Consilium Medicum. 2015; 17 (6): 68–72. (In Russian)] https://omnidoctor.ru/upload/iblock/33b/33b8b05d472690449fd61167c72f5940.pdf [accessed: 02.10.2023].
4. Бородулин В.И., Тополянский А.В. Клинические синдромы и симптомы. Эпонимический справочник практикующего врача. Миа;2017 [Borodulin V.I., Topolyansky A.V. Clinical syndromes and symptoms. Eponymous reference book for a practicing physician. Mia; 2017 (In Russian)].
5. Мутовин Г.Р. Клиническая генетика. Геномика и протеомика наследственной патологии: учебное пособие. М.:ГЭОТАР-Медиа;2010 [Mutovin G.R. Clinical genetics. Genomics and proteomics of hereditary pathology: a textbook. M.:GEOTAR-Media;2010 (In Russian)].
6. Клиническая генетика: учебник. Под ред. Бочкова Н.П., Пузырева В.П., Смирнихина С.А. М.:ГЭОТАР-Медиа;2022 [Clinical genetics: textbook. Ed. Bochkov N.P., Puzyrev V.P., Smirnikhin S.A.. M.:GEOTAR-Media;2022 (In Russian)].
7. Ткачук Е.А., Семинский И.Ж. Методы современной генетики. Байкальский медицинский журнал. 2023;2(1):60-71 [Tkachuk E.A., Seminsky I.Z. Methods of modern genetics. Baikal Medical Journal. 2023;2(1):60-71 (In Russian)]. DOI:10.57256/2949-0715-2023-1-60-71
8. Джонс Кеннет Л. Наследственные синдромы по Дэвиду Смиту. Атлас-справочник. М.:Практика;2011 [Jones Kenneth L. Hereditary syndromes according to David Smith. Atlas-directory. M.:Practice;2011 (In Russian)].
Review
For citations:
Tkachuk E., Seminsky I. SYNDROMAL APPROACH IN THE DIAGNOSIS OF HEREDITARY DISEASES (LECTURE). Baikal Medical Journal. 2023;2(4):85-94. (In Russ.) https://doi.org/10.57256/2949-0715-2023-4-85-94
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