Family hypercholesterolaemia at children: clinic, diagnostics, treatment

The Family Hypercholesterolaemias (FH) are a group of genetic disorders which lead to substantial increase of level of a cholesterol in a blood and an increased risk of early development of atherosclerosis and, therefore, increased mortality from coronary heart disease. FH – one of the most common m...

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Main Authors: D. I. Sadykova, L. F. Galimova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2017-11-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/561
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author D. I. Sadykova
L. F. Galimova
author_facet D. I. Sadykova
L. F. Galimova
author_sort D. I. Sadykova
collection DOAJ
description The Family Hypercholesterolaemias (FH) are a group of genetic disorders which lead to substantial increase of level of a cholesterol in a blood and an increased risk of early development of atherosclerosis and, therefore, increased mortality from coronary heart disease. FH – one of the most common metabolic disorders that occurs at the person already since the birth. Early diagnostics as identification of FH at children’s age will allow to begin early treatment is of great importance and to prevent development of cardiovascular pathology in the future. Criteria of phenotypical and genetic diagnostics of FH are given in article. Despite rough interest in this disease around the world, in Russia it remains poorly studied, especially among the children’s population. There is no detection system, routing of inspection, observation and registration of sick children, the low level of genetic consultation becomes perceptible. It testifies to need of significant improvement of knowledge and a comprehension of this pathology both for society, and among health workers.
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spelling doaj.art-ca4b4e2aa9114d59b2284e9d237db18a2023-03-13T09:12:44ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282017-11-0162511912310.21508/1027-4065-2017-62-5-119-123502Family hypercholesterolaemia at children: clinic, diagnostics, treatmentD. I. Sadykova0L. F. Galimova1Казанская государственная медицинская академия – филиал ФГБОУ РМАНПО Минздрава РоссииГАУЗ «Детская республиканская клиническая больница» Минздрава Республики ТатарстанThe Family Hypercholesterolaemias (FH) are a group of genetic disorders which lead to substantial increase of level of a cholesterol in a blood and an increased risk of early development of atherosclerosis and, therefore, increased mortality from coronary heart disease. FH – one of the most common metabolic disorders that occurs at the person already since the birth. Early diagnostics as identification of FH at children’s age will allow to begin early treatment is of great importance and to prevent development of cardiovascular pathology in the future. Criteria of phenotypical and genetic diagnostics of FH are given in article. Despite rough interest in this disease around the world, in Russia it remains poorly studied, especially among the children’s population. There is no detection system, routing of inspection, observation and registration of sick children, the low level of genetic consultation becomes perceptible. It testifies to need of significant improvement of knowledge and a comprehension of this pathology both for society, and among health workers.https://www.ped-perinatology.ru/jour/article/view/561детисемейная гиперхолестеринемиялипопротеины низкой плотностискринингкритерии
spellingShingle D. I. Sadykova
L. F. Galimova
Family hypercholesterolaemia at children: clinic, diagnostics, treatment
Rossijskij Vestnik Perinatologii i Pediatrii
дети
семейная гиперхолестеринемия
липопротеины низкой плотности
скрининг
критерии
title Family hypercholesterolaemia at children: clinic, diagnostics, treatment
title_full Family hypercholesterolaemia at children: clinic, diagnostics, treatment
title_fullStr Family hypercholesterolaemia at children: clinic, diagnostics, treatment
title_full_unstemmed Family hypercholesterolaemia at children: clinic, diagnostics, treatment
title_short Family hypercholesterolaemia at children: clinic, diagnostics, treatment
title_sort family hypercholesterolaemia at children clinic diagnostics treatment
topic дети
семейная гиперхолестеринемия
липопротеины низкой плотности
скрининг
критерии
url https://www.ped-perinatology.ru/jour/article/view/561
work_keys_str_mv AT disadykova familyhypercholesterolaemiaatchildrenclinicdiagnosticstreatment
AT lfgalimova familyhypercholesterolaemiaatchildrenclinicdiagnosticstreatment