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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">detstom</journal-id><journal-title-group><journal-title xml:lang="ru">Стоматология детского возраста и профилактика</journal-title><trans-title-group xml:lang="en"><trans-title>Pediatric dentistry and dental prophylaxis</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1683-3031</issn><issn pub-type="epub">1726-7218</issn><publisher><publisher-name>RPA</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.33925/1683-3031-2024-830</article-id><article-id custom-type="elpub" pub-id-type="custom">detstom-830</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНАЯ СТАТЬЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL ARTICLE</subject></subj-group></article-categories><title-group><article-title>Оценка влияния состояния некоторых параметров стоматологического статуса на качество жизни детей с орфанными заболеваниями с нарушением фосфорно-кальциевого обмена</article-title><trans-title-group xml:lang="en"><trans-title>Evaluation of the impact of specific oral health parameters on the quality of life in children  with rare disorders of phosphorus-calcium metabolism</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9409-3046</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Алексеева</surname><given-names>И. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Alekseeva</surname><given-names>I. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Алексеева Ирина Александровна, кандидат медицинских наук, ассистент кафедры детской стоматологии</p><p>Москва</p></bio><bio xml:lang="en"><p>Irina A. Alekseeva, DMD, PhD, Assistant Professor, Department of Pediatric Dentistry</p><p>Moscow </p></bio><email xlink:type="simple">alexeeva.penza@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2095-9473</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кисельникова</surname><given-names>Л. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Kiselnikova</surname><given-names>L. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кисельникова Лариса Петровна, доктор медицинских наук, профессор, заведующая кафедрой детской стоматологии</p><p>Москва</p></bio><bio xml:lang="en"><p>Larisa P. Kiselnikova, DMD, PhD, DSc, Professor, Head of the Department of Pediatric Dentistry</p><p>Moscow</p></bio><email xlink:type="simple">lpkiselnikova@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Российский университет медицины</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Russian University of Medicine</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>07</day><month>10</month><year>2024</year></pub-date><volume>24</volume><issue>3</issue><fpage>259</fpage><lpage>266</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Алексеева И.А., Кисельникова Л.П., 2024</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="ru">Алексеева И.А., Кисельникова Л.П.</copyright-holder><copyright-holder xml:lang="en">Alekseeva I.A., Kiselnikova L.P.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.detstom.ru/jour/article/view/830">https://www.detstom.ru/jour/article/view/830</self-uri><abstract><sec><title>Актуальность</title><p>Актуальность. Весьма актуальным является изучение влияния стоматологических проблем на аспекты качества жизни детей с редкими метаболическими заболеваниями с нарушением минерального обмена.</p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. Проведено стоматологическое обследование 59 детей 6-17 лет с редкими заболеваниями с нарушением минерального обмена, с генетически подтвержденным диагнозом. В ходе исследования были сформированы группы: первая (24 ребенка) – с нарушением минерализации костной ткани (гипофосфатемический рахит, гипофосфатазия) и вторая (35 детей) – с нарушением процессов формирования кости и хряща (несовершенный остеогенез, синдром Марфана, ахондроплазия др.). Клинически состояние тканей зубов детей с данными заболеваниями оценивалось по уровню гигиены полости рта и интенсивности кариеса постоянных зубов с помощью индексов OHI-S и КПУ, соответственно. Индекс pufa/PUFA использовали для возможности регистрировать осложнения кариеса зубов. С целью изучения восприятия стоматологических проблем детей проводили анкетирование родителей и их законных представителей с использованием опросника Oral Health – Related Quality of Life (OHRQоL).</p></sec><sec><title>Результаты</title><p>Результаты. Средние показатели индексов КПУ и OHI-S не имели достоверно значимых различий и составили 4,26 ± 0,28 и 1,96 ± 0,15; 3,76 ± 0,40 и 1,75 ± 0,10 в первой и второй группах детей, соответственно. Однако средние значения индекса pufa/PUFА у детей с нарушением формирования кости и хряща достоверно (р = 0,003), в три раза, превышали аналогичные в группе с нарушением процессов минерализации кости, их показатели были равны 1,03 ± 0,18 и 0,30 ± 0,11, соответственно; что сопровождалось более высокими показателями коэффициентов корреляции КПУ и PUFА с аспектами модулей физического дискомфорта, функционального состояния в полости рта 0,38 и 0,41 и эмоционального благополучия 0,49 и 0,27 против аналогичных 0,07 и 0,02; 0,29 и – 0,21 в первой группе, различия были статистически достоверны при р &lt; 0,05 и р &lt; 0,005.</p></sec><sec><title>Заключение</title><p>Заключение. Выявлено наибольшее влияние имеющейся стоматологической патологии на качество жизни детей с орфанными заболеваниями с нарушением формирования кости и хряща.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Relevance</title><p>Relevance. Understanding the impact of oral health problems on the quality of life in children with rare metabolic disorders that affect mineral metabolism is critically important.</p></sec><sec><title>Materials and methods</title><p>Materials and methods. An oral health assessment was conducted on 59 children aged 6 to 17 years with rare diseases affecting mineral metabolism, each with a genetically confirmed diagnosis. The children were divided into two study groups: the first group (24 children) comprised those with bone mineralization disorders (hypophosphatemic rickets, hypophosphatasia), while the second group (35 children) included those with disorders of bone and cartilage formation (osteogenesis imperfecta, Marfan syndrome, achondroplasia, etc.). The clinical condition of the children's dental tissues was assessed by evaluating oral hygiene levels and caries intensity in permanent teeth, using the OHI-S and DMFT indices, respectively. The pufa/PUFA index was used to document complications arising from dental caries. To assess the perception of oral health problems, a survey was administered to parents and legal guardians using the Oral Health-Related Quality of Life (OHRQoL) questionnaire.</p></sec><sec><title>Results</title><p>Results. The average DMFT and OHI-S index values did not show statistically significant differences, with values of 4.26 ± 0.28 and 1.96 ± 0.15 in the first group, and 3.76 ± 0.40 and 1.75 ± 0.10 in the second group, respectively. However, the mean pufa/PUFA index values were significantly higher in children with bone and cartilage formation disorders (p = 0.003), being three times greater than those in the group with bone mineralization disorders, with values of 1.03 ± 0.18 and 0.30 ± 0.11, respectively. This increase was associated with higher correlation coefficients between the DMFT and PUFA indices and the modules for physical discomfort, oral functional status, and emotional well-being, with values of 0.38 and 0.41, and 0.49 and 0.27, compared to 0.07 and 0.02, and 0.29 and -0.21 in the first group. These differences were statistically significant at p &lt; 0.05 and p &lt; 0.005.</p></sec><sec><title>Conclusion</title><p>Conclusion. The study revealed that existing oral health conditions have the greatest impact on the quality of life in children with rare diseases affecting bone and cartilage formation.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>дети</kwd><kwd>орфанные заболевания</kwd><kwd>фосфорно-кальциевый обмен</kwd><kwd>стоматологический статус</kwd><kwd>качество жизни</kwd></kwd-group><kwd-group xml:lang="en"><kwd>children</kwd><kwd>rare diseases</kwd><kwd>phosphorus-calcium metabolism</kwd><kwd>oral health</kwd><kwd>quality of life</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Charoenngam, N.; Cevik, M.B.; Holick, M.F. Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility. 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