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"description": "Сахарный диабет, обусловленный недостаточностью питания — по рекомендации Всемирной организации здравоохранения в 1985 году, в дополнение к ранее выделенным типам сахарного диабета, в классификацию была включена ещё одна клиническая форма, обусловленная недостаточностью питания, главным образом в тропических странах у пациентов 10—50 лет. ",
"etiology": "<p>Выделяют панкреатическую и панкреатогенную формы сахарного диабета, обусловленного недостаточностью питания. </p>\r\n<p>Возникновение панкреатической формы сахарного диабета связывают с избыточным употреблением в пищу продуктов, содержащих цианиды (бобы, маниока, сорго, просо) на фоне дефицита белка (фиброкалькулезный подтип). </p>\r\n<p>Протеин-дефицитный подтип панкреатической формы сахарного диабета обусловлен низким содержанием в принимаемой пище белка и насыщенных жиров, возникает в возрасте 20—35 лет. </p>\r\n<p>Панкреатогенная форма связана с избыточным поступлением железа в организм и его отложением в поджелудочной железе. </p>",
"pathogenesis": "<p>Патогенез панкреатической формы связывают с избыточным употреблением в пищу продуктов, содержащих цианиды (бобы, маниока, сорго, просо) на фоне дефицита белка. Отмечается весьма низкая секреция инсулина, глюкагона и синдром нарушения внутрикишечного всасывания. При патогистологическом исследовании в протоках поджелудочной железы пациентов выявляются кальцинаты (отложение солей кальция) и диффузный фиброз железы (замещение соединительной тканью) без признаков наличия воспалительного процесса. </p>\r\n<p>При панкреатогенном диабете отложение железа в поджелудочной железе возникает, например, при лечении талассемии (частые переливания крови), употребление жидкостей (в том числе алкоголя) из железных ёмкостей распространено среди народа банту в Южной Африке) и другими факторами, приводящими к развитию вторичного гемохроматоза (накоплению железа в крови). </p>",
"diagnostics": "<p>Диагностика включает: </p>\r\n<ul>\r\n<li>Определение содержания глюкозы в плазме капиллярной крови натощак и через 2 часа после теста толерантности к глюкозе (прием внутрь 75 г глюкозы, разведенной в 300 мл воды). </li>\r\n<li>Проводится патогистологическое исследование поджелудочной железы и ее протоков. </li>\r\n<li>Определение уровня железа в переферической крови. </li>\r\n<li>Биохимическое исследование крови с определением уровня белка. </li>\r\n</ul>\r\n<p> </p>",
"treatment": "<p>Лечение включает в себя: </p>\r\n<ul>\r\n<li>инсулинотерапию; </li>\r\n<li>сбалансированное питание; </li>\r\n<li>исключение из рациона продуктов, содержащих цианиды (бобы, маниока, сорго, просо); </li>\r\n<li>применение антидота железа (десферала) - препарата, образующего комплексное соединение с железом, способствующего удалению железа из организма с мочой. </li>\r\n</ul>",
"prevention": "<p>Профилактика заболевания включает в себя рациональное сбалансированное питание, своевременное выявление повышения уровня глюкозы крови, контроль уровня железа в крови. </p>",
"clinical_picture": "<p>Течение данной формы сахарного диабета характеризуется отсутствием кетоза при наличии клинической картины 1-го типа сахарного диабета, резистентностью (устойчивостью) к инсулинотерапии. </p>\r\n<p>Проявляется повышением уровня сахара крови, повышенным мочевыделением, похудением при повышенном аппетите, сухостью во рту, слабостью. </p>\r\n<p>Течение данного подтипа диабета зачастую осложняется тяжёлой периферической соматической полинейропатией (множественное поражение периферических нервов). </p>",
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"description": "Сахарный диабет, обусловленный недостаточностью питания — по рекомендации Всемирной организации здравоохранения в 1985 году, в дополнение к ранее выделенным типам сахарного диабета, в классификацию была включена ещё одна клиническая форма, обусловленная недостаточностью питания, главным образом в тропических странах у пациентов 10—50 лет. ",
"etiology": "<p>Выделяют панкреатическую и панкреатогенную формы сахарного диабета, обусловленного недостаточностью питания. </p>\r\n<p>Возникновение панкреатической формы сахарного диабета связывают с избыточным употреблением в пищу продуктов, содержащих цианиды (бобы, маниока, сорго, просо) на фоне дефицита белка (фиброкалькулезный подтип). </p>\r\n<p>Протеин-дефицитный подтип панкреатической формы сахарного диабета обусловлен низким содержанием в принимаемой пище белка и насыщенных жиров, возникает в возрасте 20—35 лет. </p>\r\n<p>Панкреатогенная форма связана с избыточным поступлением железа в организм и его отложением в поджелудочной железе. </p>",
"pathogenesis": "<p>Патогенез панкреатической формы связывают с избыточным употреблением в пищу продуктов, содержащих цианиды (бобы, маниока, сорго, просо) на фоне дефицита белка. Отмечается весьма низкая секреция инсулина, глюкагона и синдром нарушения внутрикишечного всасывания. При патогистологическом исследовании в протоках поджелудочной железы пациентов выявляются кальцинаты (отложение солей кальция) и диффузный фиброз железы (замещение соединительной тканью) без признаков наличия воспалительного процесса. </p>\r\n<p>При панкреатогенном диабете отложение железа в поджелудочной железе возникает, например, при лечении талассемии (частые переливания крови), употребление жидкостей (в том числе алкоголя) из железных ёмкостей распространено среди народа банту в Южной Африке) и другими факторами, приводящими к развитию вторичного гемохроматоза (накоплению железа в крови). </p>",
"diagnostics": "<p>Диагностика включает: </p>\r\n<ul>\r\n<li>Определение содержания глюкозы в плазме капиллярной крови натощак и через 2 часа после теста толерантности к глюкозе (прием внутрь 75 г глюкозы, разведенной в 300 мл воды). </li>\r\n<li>Проводится патогистологическое исследование поджелудочной железы и ее протоков. </li>\r\n<li>Определение уровня железа в переферической крови. </li>\r\n<li>Биохимическое исследование крови с определением уровня белка. </li>\r\n</ul>\r\n<p> </p>",
"treatment": "<p>Лечение включает в себя: </p>\r\n<ul>\r\n<li>инсулинотерапию; </li>\r\n<li>сбалансированное питание; </li>\r\n<li>исключение из рациона продуктов, содержащих цианиды (бобы, маниока, сорго, просо); </li>\r\n<li>применение антидота железа (десферала) - препарата, образующего комплексное соединение с железом, способствующего удалению железа из организма с мочой. </li>\r\n</ul>",
"prevention": "<p>Профилактика заболевания включает в себя рациональное сбалансированное питание, своевременное выявление повышения уровня глюкозы крови, контроль уровня железа в крови. </p>",
"clinical_picture": "<p>Течение данной формы сахарного диабета характеризуется отсутствием кетоза при наличии клинической картины 1-го типа сахарного диабета, резистентностью (устойчивостью) к инсулинотерапии. </p>\r\n<p>Проявляется повышением уровня сахара крови, повышенным мочевыделением, похудением при повышенном аппетите, сухостью во рту, слабостью. </p>\r\n<p>Течение данного подтипа диабета зачастую осложняется тяжёлой периферической соматической полинейропатией (множественное поражение периферических нервов). </p>",
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"lead": "Нарушение здоровья, относящееся к группе хромосомные аномалии, не классифицированные в других рубриках",
"description": "Синдром Эдвардса — это генетическое заболевание, характеризующееся дублированием (трисомией) 18 хромосомы и проявляющееся целым рядом характерных пороков развития у плода во время беременности, часто приводящих к смерти ребенка или его инвалидизации. \r\n\r\nСиндром Патау – хромосомное заболевание, обусловленное наличием дополнительной копии 13-ой хромосомы (трисомия по 13-ой хромосоме). \r\n \r\n\r\n ",
"etiology": "<p>Причиной синдрома Эдвардса является наличие дополнительной 18-й хромосомы (трёх вместо двух в норме для диплоидного набора) в кариотипе зиготы. </p>\r\n<p>Основой для развития синдрома Патау служит присутствие в кариотипе дополнительной копии 13-ой хромосомы. Точные причины утроения хромосом не установлены. Известно лишь, что генетический сбой может произойти во время формирования гамет или уже на этапе образования зиготы. Прослеживается связь между частотой развития патологии у плода и возрастом матери. </p>\r\n<p>Роль других факторов (инфекций, соматических заболеваний матери, вредных привычек, экологического неблагополучия и пр.) достоверно не определена. </p>",
"pathogenesis": "<p>Лишняя хромосома обычно появляется до оплодотворения. У человека нормальные половые клетки — гаметы — содержат по 23 хромосомы (гаплоидный набор) и, сливаясь, они дают кариотип зиготы — 46 хромосом. К появлению лишней хромосомы у гамет обычно приводит нерасхождение хромосом при мейотическом делении, вследствие чего в половой клетке оказывается 24 хромосомы. В случае, если такая клетка встретит при оплодотворении гамету от противоположного пола, они образуют зиготу с трисомией. </p>\r\n<p>В одном случае из десяти наблюдается мозаицизм в явлении трисомии 18: лишнюю хромосому несут не все клетки организма. Это говорит о том, что нерасхождение произошло на ранней стадии развития зародыша, а все клетки с трисомией — потомки неправильно поделившейся клетки зародыша. </p>",
"diagnostics": "<p>На первом этапе скрининга производится определение биохимических маркеров (бета-ХГЧ, РАРР-А и др.) и УЗИ-исследование, на основании которых рассчитывается риск рождения больного ребенка для данной женщины. </p>\r\n<p>Женщинам, попавшим в группы риска, предлагается проведение инвазивной пренатальной диагностики: биопсии ворсин хориона (8-12 недели), амниоцентеза (забор околоплодных вод) на 14-18 недели или кордоцентеза (взятие крови плода из пуповины) после 20-й недели беременности. В полученных образцах материала плода проводится поиск трисомии по 13-ой хромосоме методом кариотипирования с дифференциальной окраской хромосом или КФ-ПЦР. </p>\r\n<p>Если дородовая диагностика по каким-либо причинам не проводилась, хромосомная аномалия может быть заподозрена у новорожденного неонатологом на основании ярких клинических признаков и дерматографических изменений. Однако цитогенетический диагноз трисомии может быть получен только после определения хромосомного набора ребенка. </p>\r\n<p>Новорожденные с предполагаемым или установленным диагнозом нуждаются в углубленном комплексном обследовании для выявления тяжелых пороков развития (эхокардиографии, УЗИ органов брюшной полости и почек, нейросонографии, КТ головного мозга и др.). </p>",
"treatment": "<p>Лечения хромосомных заболеваний в настоящее время не существует. </p>\r\n<p>Проводятся пластическиу операции по устранению щели на небе и губе, и ликвидации лишних пальцев; осуществляются множественные хирургические вмешательства для удаления патологий внутренних органов; обеспечивается тщательный уход, полноценное питание и постоянный контроль за малышом; общеукрепляющие мероприятия для поддержания функционирования поражённых органов; ограничение ребёнка от заражения инфекционными или воспалительными заболеваниями.</p>",
"prevention": "<p>Специфической профилактики не существует. С целью своевременного выявления хромосомной патологии у плода не следует пренебрегать антенатальным скринингом, входящим в программу введения беременности.</p>",
"clinical_picture": "<h3><strong>Синдром Эдвардса </strong></h3>\r\n<p>Во время беременности наблюдается малый вес плода, многоводие, небольшая плацента и наличие одной артерии плаценты. </p>\r\n<p>Новорожденные имеют изменение формы черепа, маленькие рот и челюсть, лицевой дисфорфизм, дефекты глаз (косоглазие, опущение века, третье веко, пучеглазие) и низкие деформированные ушные раковины. Также наблюдаются количественные аномалии пальцев рук и ног, деформация стопы («стопа-качалка»). </p>\r\n<p>Из дефектов внутренних органов наиболее часто встречаются пороки сердца и сосудов, мочеполовой системы, желудочно-кишечного тракта, дыхательной системы. </p>\r\n<p>Синдром Эдвардса характеризуется умственной отсталостью и задержкой в развитии. Большая часть детей умирает в первые месяцы жизни. </p>\r\n<h3><strong>Синдром Патау</strong></h3>\r\n<p>Дети с синдромом Патау небольшого роста, с микроцефалией (маленьким черепом), имеют покатый лоб, суженные глазные щели, маленькие глаза, миеломенингоцеле (спиномозговая грыжа), помутнение роговицы, запавшая переносица и широкое основание носа, деформированные ушные раковины, расщелина верхней губы и нёба, полидактилия (увеличение количества пальцев), короткая шея, флексорное (сгибательное) положение кистей, сморщенная кожа задней поверхности шеи. </p>\r\n<p>Характерна умственная отсталость. Внутренние органы имеют дефекты: пороки сердца, сосудов, поджелудочной железы, селезенки, почек. </p>\r\n<p>Во время беременности в большинстве случаев наблюдается многоводие. </p>\r\n<p> </p>",
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"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;\">Патологическое состояние развивается вследствие генетической ошибки при делении клеток – у плода во всех клетках организма появляется дополнительная хромосома 13-й пары. Редко лишняя хромосома находится только в некоторых клетках, еще реже часть 13-й хромосомы присоединяется к другой хромосоме.</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: 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;\">Современная медицина не может дать четкий ответ на вопрос о причине генной мутации, однако способна выделить факторы, увеличивающие риск возникновения аномалии у плода:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">зачатие плода от брака между близкими родственниками;</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">наличие в роду генетических заболеваний (наличие у родителей робертсоновской транслокации);</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">рождение ребенка матерью зрелого возраста (болезнь относительно часто выявляется у детей, рожденных женщинами старше 45 лет).</span></li>\r\n</ul>\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;\">Влияние на частоту заболеваемости плохой экологии, вредных привычек матери, внутриутробных инфекций и соматических заболеваний матери на данный момент достоверно не определено.</span></p>",
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"diagnostics": "<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;\">Своевременная диагностика синдрома Патау значительно облегчилась с началом применения обязательного скринингового ультразвукового обследования беременных женщин. Первое, что бросается в глаза специалисту УЗ-диагностики – это наличие многоводия. Около половины женщин с выраженным многоводием при беременности рожают детей с различными патологиями развития (в том числе и с синдромом Патау).</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: 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;\">Заподозрить хромосомное заболевание также можно при сдаче анализа крови на биохимические маркеры, проводимого всем беременным в конце 1-го триместра. Анализ позволяет врачу оценить вероятность возникновения генетических аномалий у плода.</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;\">При плохих результатах скринигового УЗИ и анализа крови женщине проводится инвазивное исследование – биопсия хориона. Данный анализ также показан возрастным беременным женщинам (забеременевшим в возрасте свыше 35 лет). Достоверность полученных в ходе биопсии данных очень высока.</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;\">В том случае, если по каким-то причинам женщине не проводились скрининговые исследования плода во время беременности, диагностика аномалии у новорожденного ребенка проводится врачом-неонатологом на основании ярко выраженных клинических признаков.</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;\">Новорожденный младенец с внешними проявлениями синдрома Патау направляется на дополнительные исследования с целью выявления различных пороков развития:</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;\">генетическое исследование хромосомного набора ребенка;</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;\">эхокардиографию;</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;\">УЗИ органов грудной клетки и брюшной полости;</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;\">нейросонографию;</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;\">компьютерную томографию головного мозга;</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;\">аудиометрию слуха и др.</span></li>\r\n</ul>\r\n<p> </p>\r\n<p><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;\"> </span></p>",
"treatment": "<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;\">Возможности медицинской помощи больным с синдромом Патау ограничены. Главная задача специалистов – продление жизни младенца и улучшение ее качества. Для этого врачи обеспечивают необходимый ребенку уход, нормальное питание (из-за расщелин на лице младенец не способен получать пищу привычным для всех способом), предотвращение инфицирования, устранение неприятных симптомов.</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: 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;\">Маленькому пациенту назначается курс медикаментозного лечения, включающий прием препаратов, направленных на поддержание нормального функционирования пораженных органов, иммуноукрепляющих и симптоматических средств (противовоспалительных, обезболивающих и др.).</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;\">Для устранения видимых дефектов хирурги проводят оперативное лечение заячьей губы, волчьей пасти, удаление лишних пальцев, хирургическое устранение пороков органов и т.д.</span></p>",
"prevention": "<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;\">Несмотря на то что синдром Патау — это серьезное заболевание с очень высокими показателями смертности, специфических профилактических мер по отношению к нему не разработано. Основная профилактика синдрома Патау — это тщательное планирование беременности, диагностика заболевания на ранних сроках внутриутробного развития и принятия решения о целесообразности сохранения беременности.</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;\">Далеко не второстепенную роль играет неспецифическая профилактика синдрома Патау, которая заключается в правильном питании, исключении вредных привычек, своевременном лечении инфекционных заболеваний. Эти простые мероприятия помогут предотвратить не только хромосомные патологии, но и многие другие заболевания.</span></p>",
"clinical_picture": "<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;\">Хромосомная патология сопровождается многообразными пороками, нередко приводящими к гибели плода еще в утробе матери. В большинстве случаев аномалию можно обнаружить во время беременности при проведении планового УЗИ.</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: 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;\">При доношенной беременности дети с синдромом Патау рождаются с маленьким весом – около 2,5 кг. Процесс родов часто осложняется асфиксией младенца. Ребенок имеет характерный для болезни внешний вид: маленькую окружность головы (микроцефалия), низкий скошенный лоб, запавшую переносицу, узковатые щели глаз, деформацию ушных раковин. Главная отличительная особенность патологии – наличие двусторонней расщелины на лице (волчьей пасти и заячьей губы).</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: 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;\">Другие признаки заболевания:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">многочисленные патологии мочеполовой, сердечно-сосудистой и пищеварительной систем.</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">отклонения в физическом развитии;</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">аномальное строение глаз (отсутствие глазных яблок, отслойка сетчатки, врожденная катаракта и др.);</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">выраженное снижение интеллекта;</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">нарушение строения половых органов;</span></li>\r\n<li><span style=\"font-size: 7pt; color: #000000; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">деформация стоп, присутствие лишних пальцев на ногах;</span></li>\r\n</ul>",
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"code": "Q91",
"name": "Синдром Эдвардса и синдром Патау",
"icd_name": "Синдром Эдвардса и синдром Патау",
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"lead": "Нарушение здоровья, относящееся к группе хромосомные аномалии, не классифицированные в других рубриках",
"description": "Синдром Эдвардса — это генетическое заболевание, характеризующееся дублированием (трисомией) 18 хромосомы и проявляющееся целым рядом характерных пороков развития у плода во время беременности, часто приводящих к смерти ребенка или его инвалидизации. \r\n\r\nСиндром Патау – хромосомное заболевание, обусловленное наличием дополнительной копии 13-ой хромосомы (трисомия по 13-ой хромосоме). \r\n \r\n\r\n ",
"etiology": "<p>Причиной синдрома Эдвардса является наличие дополнительной 18-й хромосомы (трёх вместо двух в норме для диплоидного набора) в кариотипе зиготы. </p>\r\n<p>Основой для развития синдрома Патау служит присутствие в кариотипе дополнительной копии 13-ой хромосомы. Точные причины утроения хромосом не установлены. Известно лишь, что генетический сбой может произойти во время формирования гамет или уже на этапе образования зиготы. Прослеживается связь между частотой развития патологии у плода и возрастом матери. </p>\r\n<p>Роль других факторов (инфекций, соматических заболеваний матери, вредных привычек, экологического неблагополучия и пр.) достоверно не определена. </p>",
"pathogenesis": "<p>Лишняя хромосома обычно появляется до оплодотворения. У человека нормальные половые клетки — гаметы — содержат по 23 хромосомы (гаплоидный набор) и, сливаясь, они дают кариотип зиготы — 46 хромосом. К появлению лишней хромосомы у гамет обычно приводит нерасхождение хромосом при мейотическом делении, вследствие чего в половой клетке оказывается 24 хромосомы. В случае, если такая клетка встретит при оплодотворении гамету от противоположного пола, они образуют зиготу с трисомией. </p>\r\n<p>В одном случае из десяти наблюдается мозаицизм в явлении трисомии 18: лишнюю хромосому несут не все клетки организма. Это говорит о том, что нерасхождение произошло на ранней стадии развития зародыша, а все клетки с трисомией — потомки неправильно поделившейся клетки зародыша. </p>",
"diagnostics": "<p>На первом этапе скрининга производится определение биохимических маркеров (бета-ХГЧ, РАРР-А и др.) и УЗИ-исследование, на основании которых рассчитывается риск рождения больного ребенка для данной женщины. </p>\r\n<p>Женщинам, попавшим в группы риска, предлагается проведение инвазивной пренатальной диагностики: биопсии ворсин хориона (8-12 недели), амниоцентеза (забор околоплодных вод) на 14-18 недели или кордоцентеза (взятие крови плода из пуповины) после 20-й недели беременности. В полученных образцах материала плода проводится поиск трисомии по 13-ой хромосоме методом кариотипирования с дифференциальной окраской хромосом или КФ-ПЦР. </p>\r\n<p>Если дородовая диагностика по каким-либо причинам не проводилась, хромосомная аномалия может быть заподозрена у новорожденного неонатологом на основании ярких клинических признаков и дерматографических изменений. Однако цитогенетический диагноз трисомии может быть получен только после определения хромосомного набора ребенка. </p>\r\n<p>Новорожденные с предполагаемым или установленным диагнозом нуждаются в углубленном комплексном обследовании для выявления тяжелых пороков развития (эхокардиографии, УЗИ органов брюшной полости и почек, нейросонографии, КТ головного мозга и др.). </p>",
"treatment": "<p>Лечения хромосомных заболеваний в настоящее время не существует. </p>\r\n<p>Проводятся пластическиу операции по устранению щели на небе и губе, и ликвидации лишних пальцев; осуществляются множественные хирургические вмешательства для удаления патологий внутренних органов; обеспечивается тщательный уход, полноценное питание и постоянный контроль за малышом; общеукрепляющие мероприятия для поддержания функционирования поражённых органов; ограничение ребёнка от заражения инфекционными или воспалительными заболеваниями.</p>",
"prevention": "<p>Специфической профилактики не существует. С целью своевременного выявления хромосомной патологии у плода не следует пренебрегать антенатальным скринингом, входящим в программу введения беременности.</p>",
"clinical_picture": "<h3><strong>Синдром Эдвардса </strong></h3>\r\n<p>Во время беременности наблюдается малый вес плода, многоводие, небольшая плацента и наличие одной артерии плаценты. </p>\r\n<p>Новорожденные имеют изменение формы черепа, маленькие рот и челюсть, лицевой дисфорфизм, дефекты глаз (косоглазие, опущение века, третье веко, пучеглазие) и низкие деформированные ушные раковины. Также наблюдаются количественные аномалии пальцев рук и ног, деформация стопы («стопа-качалка»). </p>\r\n<p>Из дефектов внутренних органов наиболее часто встречаются пороки сердца и сосудов, мочеполовой системы, желудочно-кишечного тракта, дыхательной системы. </p>\r\n<p>Синдром Эдвардса характеризуется умственной отсталостью и задержкой в развитии. Большая часть детей умирает в первые месяцы жизни. </p>\r\n<h3><strong>Синдром Патау</strong></h3>\r\n<p>Дети с синдромом Патау небольшого роста, с микроцефалией (маленьким черепом), имеют покатый лоб, суженные глазные щели, маленькие глаза, миеломенингоцеле (спиномозговая грыжа), помутнение роговицы, запавшая переносица и широкое основание носа, деформированные ушные раковины, расщелина верхней губы и нёба, полидактилия (увеличение количества пальцев), короткая шея, флексорное (сгибательное) положение кистей, сморщенная кожа задней поверхности шеи. </p>\r\n<p>Характерна умственная отсталость. Внутренние органы имеют дефекты: пороки сердца, сосудов, поджелудочной железы, селезенки, почек. </p>\r\n<p>Во время беременности в большинстве случаев наблюдается многоводие. </p>\r\n<p> </p>",
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