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"code": "D66",
"name": "Наследственный дефицит фактора VIII",
"icd_name": "Наследственный дефицит фактора VIII",
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"age_min": 0,
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"slug": "d66_nasledstvennyy_deficit_faktora_viii",
"lead": "Нарушение здоровья, относящееся к группе нарушения свертываемости крови, пурпура и другие геморрагические состояния",
"description": "Гемофилия А - тяжелое наследственное генетическое заболевание крови, которое вызвано врожденным отсутствием факторов свертывания крови VIII. Болезнь характеризуется нарушением свертываемости крови и проявляется в частых кровоизлияниях в суставы, мышцы и внутренние органы.",
"etiology": "<p>Гены, обусловливающие развитие гемофилии, сцеплены с половой Х-хромосомой, поэтому заболевание наследуется по рецессивному признаку по женской линии. Наследственной гемофилией болеют практически исключительно лица мужского пола. Женщины являются проводниками носителями гена гемофилии, передающими заболевание части своих сыновей. Несмотря на то, что болезнь является наследственной в одной трети случаев болезнь возникает без соответствующего семейного анамнеза.</p>",
"pathogenesis": "<p>Свертываемость крови, или гемостаз, служит важнейшей защитной реакцией организма. Активизация системы гемостаза происходит в случае повреждения сосудов и начала кровотечения. Свертываемость крови обеспечивается тромбоцитами и особыми веществами – плазменными факторами. При дефиците фактора свертывания своевременный и адекватный гемостаз становится невозможным. При гемофилии А в связи с дефицитом VIII фактора нарушается первая фаза свертывания крови - образование тромбопластина. При этом увеличивается время свертывания крови; иногда кровотечение не останавливается в течение нескольких часов.</p>",
"diagnostics": "<p>Для диагностики гемофилии используют различные лабораторные методы. В коагулограмме наблюдается повышение АЧТВ, протромбинового времени и времени кровотечения.</p>\r\n<p>Диагноз ставится при наличии очень низкого уровня фактора VIII.</p>\r\n<p>Данные о семейном анамнезе часто учитываются, хотя и не являются решающими. В последнее время доступным для определения вероятности наличия или передачи гемофилии стало генетическое тестирование.</p>",
"treatment": "<p>В лечении гемофилии выделяют два направления – профилактические и «по требованию», в период проявлений геморрагического синдрома.</p>\r\n<p> Профилактическое введение концентратов факторов свертывания крови показано пациентам с тяжелой формой гемофилии и проводится 2-3 раза в неделю для предупреждения развития гемофилической артропатии и прочих кровотечений.</p>\r\n<p>Дополнительно используются свежезамороженная плазма, эритромасса, гемостатики. Все инвазивные вмешательства у больных с гемофилией (наложение швов, удаление зубов, любые операции) проводятся под прикрытием гемостатической терапии.</p>\r\n<p>При незначительных наружных кровотечениях (порезах, кровотечениях из полости носа и рта) может использоваться гемостатическая губка, наложение давящей повязки, обработка раны тромбином. При неосложненном кровоизлиянии ребенку необходим полный покой, холод, иммобилизация больного сустава гипсовой лонгетой, в дальнейшем – УВЧ, электрофорез, ЛФК, легкий массаж.</p>\r\n<p>При гемартрозах проводится пункция сустава, после аспирации в полость сустава вводят глюкокортикоидный препарат</p>\r\n<p>Больным с гемофилией рекомендуется диета, обогащенная витаминами А, В, С, D, солями кальция и фосфора.</p>",
"prevention": "<p>Большое значение имеет профилактика кровотечений. Следует избегать внутримышечного введения лекарственных средств из-за опасности возникновения гематом. Лекарственные препараты целесообразно назначать перорально или вводить внутривенно. Ребёнок с гемофилией должен посещать стоматолога каждые 3 мес, чтобы предупредить возможную экстракцию зуба. Родителей больного гемофилией необходимо ознакомить с особенностями ухода за детьми с этим заболеванием и принципами оказания им первой помощи. Поскольку больной гемофилией не сможет заниматься физической работой, родители должны развивать у него склонность к интеллектуальному труду.</p>",
"clinical_picture": "<p>Кровотечения – отсроченные, возникают через несколько часов после травмы. Кровотечения в неонатальном периоде: кефалогематома, кровотечения из пуповины, кровоизлияния в области ягодиц при ягодичном предлежании плода. Позже – кровотечения при прорезываении зубов или при ранении уздечки языка, гематомы в местах ушибов и внутримышечных инъекций. Могут возникать желудочно-кишечные кровотечения, связанные с эрозивно-язвенной патологией.</p>\r\n<p>Для детей после года характерны носовые кровотечения, подкожные и межмышечные гематомы, кровоизлияния в крупные суставы.</p>\r\n<p>Ввиду постоянных и длительных кровотечений у детей с гемофилией имеется анемия различной степени выраженности.</p>\r\n<p>Гемартрозы являются наиболее частым и специфическим проявлением гемофилии. Первые внутрисуставные кровоизлияния у детей с гемофилией случаются в возрасте 1-8 лет после ушибов, травм или спонтанно. При гемартрозе выражен болевой синдром, отмечается увеличение сустава в объеме, покраснение и повышении температуры участка кожи над ним. Рецидивирующие гемартрозы приводят к развитию хронического синовита, деформирующего остеоартроза и ограничения пассивных движений в суставе. Деформирующий остеоартроз приводит к нарушению динамики опорно-двигательного аппарата в целом (искривлению позвоночника и таза, гипотрофии мышц, остеопорозу, вальгусной деформации стопы и др.) и к наступлению инвалидности уже в детском возрасте.</p>\r\n<p>При гемофилии могут возникать кровотечения из десен, носа, почек, органов ЖКТ. Кровотечение может быть инициировано любыми медицинскими манипуляциями.</p>\r\n<p>При гемофилии часто возникают кровоизлияния в мягкие ткани – подкожную клетчатку и мышцы. У детей обнаруживаются непроходящие синяки на туловище и конечностях, часто возникают глубокие межмышечные гематомы. Такие гематомы склонны к распространению, поскольку излившаяся кровь не сворачивается и, проникая вдоль фасций, инфильтрирует ткани. Обширные и напряженные гематомы могут сдавливать крупные артерии и периферические нервные стволы, вызывая интенсивные боли, паралич, атрофию мышц или гангрену.</p>",
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"code": "D67",
"name": "Наследственный дефицит фактора IX",
"icd_name": "Наследственный дефицит фактора IX",
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"lead": "Нарушение здоровья, относящееся к группе нарушения свертываемости крови, пурпура и другие геморрагические состояния",
"description": "Гемофилия В - тяжелое наследственное генетическое заболевание крови, которое вызвано врожденным отсутствием факторов свертывания крови VIII. Болезнь характеризуется нарушением свертываемости крови и проявляется в частых кровоизлияниях в суставы, мышцы и внутренние органы. ",
"etiology": "<p>Гены, обусловливающие развитие гемофилии, сцеплены с половой Х-хромосомой, поэтому заболевание наследуется по рецессивному признаку по женской линии. Наследственной гемофилией болеют практически исключительно лица мужского пола. Женщины являются проводниками носителями гена гемофилии, передающими заболевание части своих сыновей. Несмотря на то, что болезнь является наследственной в одной трети случаев болезнь возникает без соответствующего семейного анамнеза. </p>\r\n<p> </p>",
"pathogenesis": "<p>Свертываемость крови, или гемостаз, служит важнейшей защитной реакцией организма. Активизация системы гемостаза происходит в случае повреждения сосудов и начала кровотечения. Свертываемость крови обеспечивается тромбоцитами и особыми веществами – плазменными факторами. При дефиците фактора свертывания своевременный и адекватный гемостаз становится невозможным. При гемофилии Б в связи с дефицитом IХ фактора нарушается первая фаза свертывания крови - образование тромбопластина. При этом увеличивается время свертывания крови; иногда кровотечение не останавливается в течение нескольких часов. </p>\r\n<p> </p>",
"diagnostics": "<p>Для диагностики гемофилии используют различные лабораторные методы. В коагулограмме наблюдается повышение АЧТВ, протромбинового времени и времени кровотечения. </p>\r\n<p>Диагноз ставится при наличии очень низкого уровня фактора IХ. </p>\r\n<p>Данные о семейном анамнезе часто учитываются, хотя и не являются решающими. В последнее время доступным для определения вероятности наличия или передачи гемофилии стало генетическое тестирование. </p>\r\n<p> </p>",
"treatment": "<p> </p>\r\n<p>В лечении гемофилии выделяют два направления – профилактические и «по требованию», в период проявлений геморрагического синдрома. </p>\r\n<p> Профилактическое введение концентратов факторов свертывания крови показано пациентам с тяжелой формой гемофилии и проводится 2-3 раза в неделю для предупреждения развития гемофилической артропатии и прочих кровотечений. </p>\r\n<p>Дополнительно используются свежезамороженная плазма, эритромасса, гемостатики. Все инвазивные вмешательства у больных с гемофилией (наложение швов, удаление зубов, любые операции) проводятся под прикрытием гемостатической терапии. </p>\r\n<p>При незначительных наружных кровотечениях (порезах, кровотечениях из полости носа и рта) может использоваться гемостатическая губка, наложение давящей повязки, обработка раны тромбином. При неосложненном кровоизлиянии ребенку необходим полный покой, холод, иммобилизация больного сустава гипсовой лонгетой, в дальнейшем – УВЧ, электрофорез, ЛФК, легкий массаж. </p>\r\n<p>При гемартрозах проводится пункция сустава, после аспирации в полость сустава вводят глюкокортикоидный препарат </p>\r\n<p>Больным с гемофилией рекомендуется диета, обогащенная витаминами А, В, С, D, солями кальция и фосфора. </p>",
"prevention": "<p>Большое значение имеет профилактика кровотечений. Следует избегать внутримышечного введения лекарственных средств из-за опасности возникновения гематом. Лекарственные препараты целесообразно назначать перорально или вводить внутривенно. Ребёнок с гемофилией должен посещать стоматолога каждые 3 мес, чтобы предупредить возможную экстракцию зуба. Родителей больного гемофилией необходимо ознакомить с особенностями ухода за детьми с этим заболеванием и принципами оказания им первой помощи. Поскольку больной гемофилией не сможет заниматься физической работой, родители должны развивать у него склонность к интеллектуальному труду. </p>",
"clinical_picture": "<p>Кровотечения – отсроченные, возникают через несколько часов после травмы. Кровотечения в неонатальном периоде: кефалогематома, кровотечения из пуповины, кровоизлияния в области ягодиц при ягодичном предлежании плода. Позже – кровотечения при прорезываении зубов или при ранении уздечки языка, гематомы в местах ушибов и внутримышечных инъекций. Могут возникать желудочно-кишечные кровотечения, связанные с эрозивно-язвенной патологией. </p>\r\n<p>Для детей после года характерны носовые кровотечения, подкожные и межмышечные гематомы, кровоизлияния в крупные суставы. </p>\r\n<p>Ввиду постоянных и длительных кровотечений у детей с гемофилией имеется анемия различной степени выраженности. </p>\r\n<p>Гемартрозы являются наиболее частым и специфическим проявлением гемофилии. Первые внутрисуставные кровоизлияния у детей с гемофилией случаются в возрасте 1-8 лет после ушибов, травм или спонтанно. При гемартрозе выражен болевой синдром, отмечается увеличение сустава в объеме, покраснение и повышении температуры участка кожи над ним. Рецидивирующие гемартрозы приводят к развитию хронического синовита, деформирующего остеоартроза и ограничения пассивных движений в суставе. Деформирующий остеоартроз приводит к нарушению динамики опорно-двигательного аппарата в целом (искривлению позвоночника и таза, гипотрофии мышц, остеопорозу, вальгусной деформации стопы и др.) и к наступлению инвалидности уже в детском возрасте. </p>\r\n<p>При гемофилии могут возникать кровотечения из десен, носа, почек, органов ЖКТ. Кровотечение может быть инициировано любыми медицинскими манипуляциями. </p>\r\n<p>При гемофилии часто возникают кровоизлияния в мягкие ткани – подкожную клетчатку и мышцы. У детей обнаруживаются непроходящие синяки на туловище и конечностях, часто возникают глубокие межмышечные гематомы. Такие гематомы склонны к распространению, поскольку излившаяся кровь не сворачивается и, проникая вдоль фасций, инфильтрирует ткани. Обширные и напряженные гематомы могут сдавливать крупные артерии и периферические нервные стволы, вызывая интенсивные боли, паралич, атрофию мышц или гангрену. </p>",
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