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},
"code": "D66",
"name": "Наследственный дефицит фактора VIII",
"icd_name": "Наследственный дефицит фактора VIII",
"gender": 1,
"age_min": 0,
"age_max": 94,
"cause": [
0
],
"periodicity": 4,
"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>",
"image": null,
"image_alt": null,
"standard_type": 3,
"danger": 1,
"published": 2,
"parent": null,
"block_rubric": 42,
"standards": [
5250,
5251,
5252,
5329
]
},
{
"id": 6761,
"symptoms": [
{
"id": 2834,
"synonyms": [
{
"name": "политрихия"
},
{
"name": "много волос"
},
{
"name": "гипертрихоз"
},
{
"name": "Оволосение"
},
{
"name": "лохматость"
},
{
"name": "гирсутизм"
}
],
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"description": "<p><span id=\"docs-internal-guid-116013dd-7fff-2d7b-3ec2-f756aad92126\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Гипертрихоз – это избыточный рост волос на всех участках тела и головы, не зависящий от секреции стероидных половых гормонов и не связанный с вирилизацией (проявлением мужских черт у женщин)</span></span></p>",
"etiology": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Патология может возникнуть вследствие разных причин:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">врождённой мутации (из-за неправильного течения беременности, инфекции, перенесённой матерью в первом триместре);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">вследствие приёма рядах лекарств;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">из-за нарушений работы эндокринной системы.</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Также выделяется так называемый «симптоматический гипертрихоз». Он может сопутствовать некоторым заболеваниям и состояниям (истощение, нервная анорексия, алкогольный синдром, черепно-мозговая травма, порфирия и пр.).</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Симптомы локального гипертрихоз может наблюдаться на месте повреждения кожи (например, ожога).</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Кроме того, исследования показывают, что патология может появляется вследствие пробуждения волосяных фолликулов, вызванного различными онкологическими заболеваниями.</span></p>",
"pathogenesis": "",
"diagnostics": "<p><span id=\"docs-internal-guid-8285d8e2-7fff-f3eb-6d05-8261834a00af\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Для точной постановки диагноза внешних проявлений заболевания в виде избыточной волосяной растительности недостаточно. Диагностика должна включать в себя полное и всестороннее обследование, в том числе:</span></span></p>\r\n<ul>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">проведение анализов на изучение гормонального фона;</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">МРТ;</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">консультация и осмотр дерматолога, эндокринолога, онколога</span></li>\r\n</ul>\r\n<p><span id=\"docs-internal-guid-e41e7213-7fff-1373-6ded-450ed89fa755\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">После установления точной причины патологии врач подбирает схему и методику лечения гипертрихоза с обязательным учетом индивидуальных особенностей проявления.</span></span></p>",
"treatment": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Если чрезмерно беспокоит гипертрихоз, лечение необходимо проводить тогда, когда выявлены причины, вызвавшие развитие данной патологии. То есть, лечение должно быть направлено на избавление от основного заболевания. Если имеют место эндокринные нарушения, то проводить коррекцию нужно в этом направлении, так относительно каждого заболевания.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">В том случае, когда нет возможности выявить проблему, решением может быть просто эпиляция. Зачастую именно она и является оптимальным выходом для данной проблемы – это своеобразный метод симптоматического лечения. При болезненной эпиляции используют анестезию. После такой процедуры может быть отек, который проходит через несколько дней. Но стоит помнить о том, что самостоятельно устранять волосы нельзя ни в коем случае.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Зачастую используют электроэпиляцию для разнообразных областей тела: грудной клетки, живота, лобка, лица. </span></p>\r\n<p> </p>",
"prevention": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Поскольку причины гипертрихоза окончательно не известны, то сложно говорить о полноценно профилактике гипертрихоза. Тем не менее, некоторые люди могут снизить риск развития некоторых видов приобретенного гипертрихоза, если будут избегать:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">некоторых иммунодепрессантов</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">андрогенных стероидов</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">препаратов для роста волос</span></li>\r\n</ul>",
"clinical_picture": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Гипертрихоз проявляется избыточным ростом волос в тех местах, где это не считается нормой с учетом возраста, пола и этнической принадлежности. Так, рост волос на ногах и бедрах у женщин средиземноморья является нормой. Но то же самое проявление у девочек и представительниц азиатских народностей уже проявления гипертрихоза.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">У мужчин гипертрихоз проявляется избыточным ростом волос на спине и плечах и является симптомом атавизма. В виде атавизма гипертрихоз проявляется сразу после рождения. У младенца присутствует большое количество длинных или пушковых волос. При этом лицо и ладони тоже могут быть покрыты волосами. Ранее таких детей убивали, сейчас же гипертрихоз достаточно успешно лечат.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">У детей гипертрихоз чаще диагностируют вместе с невусами. Ограниченный гипертрихоз у детей и у взрослых может проявляться в виде сращения бровей. У мужчин гипертрихоз проявляется в виде избыточного роста волос на лице, спине и ногах.</span></p>",
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"lead": "Во время полового возбуждения из полового члена может выделяться предэякулят – бесцветная прозрачная вязкая жидкость, которая вырабатывается железами Литтре и железами Купера (бульбоуретральными железами), и поэтому ее также называют Куперовой жидкостью. Этот секрет необходим не только для того, чтобы поддерживать уретру увлажненной, но также для того, чтобы рН в ней был щелочной – наиболее благоприятный для сперматозоидов.Объем предэякулята может доходить до 4 мл. В среднем в 40% случаев, по данным исследования 2010 года, проведенного врачами из Hull York Medical School при University of Hull, в предэякуляте можно обнаружить живых и активных сперматозоидов.Нормальными также являются выделения, получившие название «смегма» – в переводе с древнегреческого это означает «кожное сало». Это действительно секрет препуциальных сальных желез, находящихся в крайней плоти, смешанный с остатками отмершего эпителия. Он нужен телу мужчины для смазки, чтобы нежная ткань головки не стиралась о крайнюю плоть. В норме в смегме обитают разнообразные бактерии, которых ученые относят к категории комменсалов - так называют организмы, получающие пользу от совместного обитания и при этом не причиняющие организму-партнеру вреда. К таким бактериями относятся: некоторые виды энтерококков, коринебактерии, Mycobacterium smegmatis и др. Под крайней плотью могут обитать более 40 видов микробов.\r\n\r\nПри регулярной гигиене половых органов смегма не накапливается и не доставляет никаких неудобств. В противном случае она откладывается в препуциальном мешке (крайней плоти) и может становиться отличным «пастбищем» для разнообразных микроорганизмов, которые начинают бурно размножаться и, в свою очередь, приводят к воспалению кожи головки пениса и крайней плоти. И вот уже на этом фоне могут развиваться баланит и баланопостит, кондиломы и папилломы (которые в худшем случае трансформируются в рак полового члена)По сути, это воспаление головки пениса. А воспаление крайней плоти называется поститом. Если же воспалительный процесс охватил и то, и другое – говорят о баланопостите. Цепочка баланит-постит-баланопостит часто наблюдается у необрезанных представителей мужского пола.\r\n\r\nВ перечень симптомов баланита, постита и их комбинации входят покраснение в области головки пениса и тканей крайней плоти, неприятный запах и зуд в области половых органов, боль.\r\n\r\nБаланит развивается у каждого 25-го мальчика и у каждого 30-го взрослого необрезанного мужчины. В категорию высокого риска входят мальчики младше 4 лет и мужчины, не проходившие процедуру обрезания (у обрезанных представителей сильного пола баланит развивается на 68% реже). При этом следует помнить, что на фоне баланита в 3,8 раза возрастают риски развития рака полового члена.\r\n\r\nВ группу повышенного риска указанных болезней также входят пациенты с сахарным диабетом и с фимозом (в последнем случае заболевание развивается из-за невозможности проведения полноценных гигиенических процедур и активного развития анаэробных бактерий). Баланит может также развиваться при экземе, грибковых и бактериальных инфекциях, при раздражении из-за использования агрессивных для кожи моющих средств.\r\n\r\nВ свою очередь, на фоне баланопостита увеличивается вероятность развития таких патологий, как фимоз, парафимоз, ксеротический облитерирующих баланит и злокачественные опухоли полового члена.",
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"etiology": "<p>Фимоз может иметь различные причины происхождения. Помимо врожденного состояния, сужение крайней плоти может возникать в результате следующих состояний:</p>\r\n<ul>\r\n<li>Возрастная атрофия</li>\r\n<li>Склеродермия</li>\r\n<li>Рубцовые сужения после травм, в том числе и после оперативных вмешательств;</li>\r\n<li>Хронический воспалительный процесс головки полового члена и т.д.</li>\r\n</ul>\r\n<p>Следует учитывать, что фимоз может быть и физиологическим состоянием. У мальчиков оно должно проходить до возраста 3-4 лет.</p>\r\n<p>Парафимоз возникает в результате наличия фимоза, который приводит к развитию этого осложнения, когда взрослые пытаются самостоятельно отодвинуть крайнюю плоть. У взрослых мужчин такое состояние развивается в результате рубцовых или воспалительных сужений крайней плоти. </p>",
"pathogenesis": "",
"diagnostics": "<p>Диагностика не составляет каких-либо трудностей, и постановка диагноза возможна уже при осмотре.</p>",
"treatment": "<p>Лечение фимоза оперативное. Его задача заключается в том, чтобы иссечь лишнюю крайнюю плоть. Операция выполняется под обезболиванием. Чем раньше она проведена, тем эффективнее ее результат оказывается.</p>\r\n<p>В случае парафимоза необходимо требуется охладить головку полового члена в течение нескольких минут. Это приведет к уменьшению отечности и, соответственно, к уменьшению размеров. После этого врач пытается вправить головку пениса обратно. Если же попытка оказывается неудачной, то проводится оперативное лечение. Оно включает в себя два этапа:</p>\r\n<ul>\r\n<li>Рассечение кольца, которое вызвало ущемление. Рассечение производится со стороны тыльной поверхности</li>\r\n<li>После того, как исчезнет отек, необходимо иссечь крайнюю плоть.</li>\r\n</ul>\r\n<p>Избыточная крайняя плоть требует ее иссечения, которое выполняется под адекватным обезболиванием. </p>",
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