ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet9672ometendo-9672Research ArticleЛекцияLectureГипофосфатемический рахит: патогенез, диагностика и лечениеHypophosphatemic rickets: pathogenesis, diagnosis and treatmenthttps://orcid.org/0000-0002-0434-9088КуликоваКристина СергеевнаKulikovaKristina S.

к.м.н., научный сотрудник отделения наследственных эндокринопатий ФГБУ НМИЦ эндокринологии

PhD

kristinakulikova87@gmail.comhttps://orcid.org/0000-0001-8500-4841ТюльпаковАнатолий НиколаевичTiulpakovAnatoly N.

заведующий отделением наследственных эндокринопатий ФГБУ НМИЦ эндокринологии

ScD

 

ant@endocrincentr.ru<p>ФГБУ Национальный медицинский исследовательский центр эндокринологии Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation2018280720181524650Copyright &#x00A9; Куликова К.С., Тюльпаков А.Н., 20182018Куликова К.С., Тюльпаков А.Н.Kulikova K.S., Tiulpakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.omet-endojournals.ru/jour/article/view/9672

Гипофосфатемический рахит (ГФР) – группа заболеваний, характеризующихся развитием рахитических изменений костной ткани вследствие повышенного выведения фосфора из организма. Данная форма рахита является наиболее распространенной среди вариантов генетически детерминированных форм нарушений минерального обмена. ГФР является актуальной медико-социальной проблемой, требующей постоянного обновления знаний как эндокринологов, так и врачей другого профиля. Это обусловлено тем, что клиническая картина ГФР имеет значительную гетерогенность и может проявляться выраженными деформациями скелета, задержкой физического развития, тяжелой мышечной гипотонией, частыми переломами, абсцессами зубов, что в ряде случаев приводит к инвалидизации пациента и, соответственно, снижает качество жизни. Своевременная диагностика и адекватная терапия ГФР имеет крайне важное значение для предотвращения развития тяжелых осложнений.

В настоящее время известны более 10 генов-кандидатов, дефекты в которых приводят к развитию врожденных форм ГФР. Генетическая диагностика ГФР имеет большое значение для определения формы ГФР, а также для проведения генетического консультирования семей при планировании беременности.

Hypophosphatemic rickets (HR) - a group of diseases characterized by the development of ricketic changes in bone tissue due to increased excretion of phosphorus from the body. This form of rickets is the most common among variants of genetically determined forms of disturbances in mineral metabolism. HR is an actual medical and social problem, requiring constant updating of knowledge of both endocrinologists and doctors of other profile. This is due to the fact that the clinical picture of HR has a significant heterogeneity and can manifest as severe deformations of the skeleton, delay in physical development, severe muscle hypotension, frequent fractures, tooth abscesses, which in some cases leads to disability of the patient and, accordingly, reduces the quality of life. Timely diagnosis and adequate therapy of HR is extremely important for preventing the development of severe complications. Currently, more than 10 candidate genes are known, the defects in which lead to the development of congenital forms of GFR. Genetic diagnostics of the HR is of great importance for determining the form of the HR, and for carrying out genetic counseling of families when planning pregnancy.

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The authors declare that there are no conflicts of interest present.