Disease List

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            "lead": "одна из клинических форм муковисцидоза, характеризующаяся непроходимостью подвздошной кишки на фоне ее обтурации уплотненными мекониальными массами",
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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;\">Задержка отхождения мекония свыше 24 часов после рождения указывает на патологию пищеварительного тракта и представляет опасность для жизни ребёнка. Основные причины:&nbsp;</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;\">Врождённые дефекты кишечника с нарушением проходимости &ndash; атрезия участка тонкой или толстой кишки, ануса, кольцевидная поджелудочная железа, мембрана в двенадцатиперстной кишке. Дефекты пищеварительного тракта часто возникает на фоне хромосомных аномалий и сочетается с пороками развития других органов.&nbsp;</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;\">Муковисцидоз &ndash; тяжёлое полиорганное заболевание с аутосомно-рецессивным типом наследования. Секрет поджелудочной железы становится вязким, уменьшается продукция ферментов, усиливается всасывание жидкости из просвета кишечника. Изменяется консистенция мекония, нарушается его отхождение.&nbsp;</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;\">Функциональная незрелость органов пищеварения &ndash; снижение секреции и перистальтики у недоношенных младенцев приводит к застою кала.&nbsp;</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;\">Синдром мекониевой пробки &ndash; скопление мекония в толстой кишке из-за нарушения моторики. Патология встречается у детей, рождённых от женщин с сахарным диабетом и гипермагниемией.&nbsp;</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;\">Болезнь Гиршпрунга &ndash; врождённое недоразвитие или отсутствие нервных сплетений кишечника, регулирующих моторику. В результате возникает обструкция поражённого участка. Отделы кишечника, расположенные выше, переполняются каловыми массами и расширяются.</span></li>\r\n</ul>\r\n<p>&nbsp;</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;\">Для подтверждения диагноза и выявления причины патологии назначают следующие исследования:&nbsp;</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;\">Обзорная рентгенограмма живота &ndash; на снимке видны раздутые кишечные петли. Наличие газа и плотного мекония даёт характерную рентгенологическую картину: симптом матового стекла и мыльного пузыря.&nbsp;</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;\">Ирригография &ndash; в прямую кишку с помощью клизмы вводят гастрографин (контрастное вещество) и выполняют рентгенограмму. При мекониевом илеусе толстая кишка пустая, узкая (микроколон), в дистальном отделе подвздошной кишки видны дефекты наполнения &ndash; плотные комочки мекония. С помощью исследования определяют место закупорки кишечника.&nbsp;</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;\">Компьютерная томография &ndash; метод диагностики причины кишечной непроходимости, проводят рентгеновское исследование с разных ракурсов, затем получают трёхмерное изображение на компьютере.&nbsp;</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 &ndash; показывает структурные изменения органов брюшной полости, псевдокисты, кальцинаты в брюшной полости. Потовая проба &ndash; определение содержания хлоридов в секрете потовых желёз. Это основной лабораторный метод диагностики муковисцидоза. Тест проводят всем детям с мекониевой непроходимостью.</span></li>\r\n</ul>\r\n<p>&nbsp;</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;\">Тактика лечения мекониального илеуса зависит от тяжести состояния ребенка, наличия или отсутствия осложнений. При неосложненном варианте заболевания проводится промывание кишечника гиперосмолярным раствором (цистографином). Высокое осмотическое давление раствора позволяет &laquo;стягивать&raquo; в просвет кишечника жидкость из окружающих тканей, тем самым разжижая густые мекониальные массы и способствуя их отхождению. Промывание осуществляется не более 2-3 раз.</span></p>\r\n<p>&nbsp;</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 тяжелом общем состоянии ребенка, развитии осложнений или отсутствии эффекта от промывания кишечника гипертоническим раствором выполняют хирургическое вмешательство путем срединной лапаротомии. После вскрытия брюшной полости для упрощения манипуляций уплотненным меконием в просвет подвздошной кишки шприцем вводят цистографин. Далее при помощи эластического катетера, введенного в аппендикс, осуществляют эвакуацию размягченного секрета через анальное отверстие. При неэффективности данной манипуляции показано раскрытие просвета кишки и механическое удаление мекониальных масс с последующим восстановлением целостности пищеварительного тракта. В некоторых случаях формируют проксимальную стому, выводя кишку на переднюю брюшную стенку. При необходимости проводят симптоматическое лечение.</span></p>",
            "prevention": "<p>&nbsp;</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;\">Специфической профилактики мекониального илеуса и муковисцидоза не разработано. Неспецифические превентивные меры включают в себя медико-генетическое консультирование семейных пар, планирование беременности, регулярное посещение женской консультации, прохождение всех необходимых исследований в период гестации, обследование больных с подозрением на муковисцидоз.</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;\">Клиническая картина мекониального илеуса развивается в первые 24-48 часов после родов. В норме у новорожденного первородные каловые массы отходят на первые, редко &ndash; на вторые сутки. При данной форме муковисцидоза отхождения кала не происходит. Примерно через 1-2 дня ухудшается общее состояние ребенка &ndash; он становится беспокойным, нарушаются сон и аппетит, возникает необоснованный плач. На 2 день (иногда &ndash; с момента рождения) появляется срыгивание, частая рвота желудочным содержимым, нередко &ndash; с примесью желчи или фекальных масс. Спустя некоторое время возникают бледность и снижение тургора кожных покровов, расширение вен передней брюшной стенки и вздутие живота. Ребенок постепенно становится апатичным и малоподвижным. Присоединяются синдромы интоксикации и дегидратации: повышение температуры тела, выраженная жажда, сухость кожи, снижение АД, повышение ЧД и ЧСС и т. д. Часто присоединяются интеркуррентные заболевания &ndash; пневмонии, бронхиты и другие.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\">&nbsp;</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;\">Примерно в 50% случаев мекониальный илеус является причиной атрезии, перфорации или незавершенного поворота кишечника. Это обусловлено заворотом растянутых и ослабленных петель, формированием псевдоклапана и нарушением кровоснабжения стенок пищеварительного канала. При длительной ишемии возникает инфаркт кишечника с последующим заращением просвета (атрезией) или перфорацией кишки, развитием мекониевого перитонита или псевдокисты.</span></p>\r\n<p>&nbsp;</p>",
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            "code": "Q02",
            "name": "Микроцефалия",
            "icd_name": "Микроцефалия",
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            "slug": "q02_mikrocefaliya",
            "lead": "Нарушение здоровья, относящееся к группе врожденные аномалии [пороки развития] нервной системы",
            "description": "Микроцефалия – недоразвитие черепа и головного мозга, сопровождающее умственной отсталостью и неврологическими отклонениями.  \r\n ",
            "etiology": "<p>Первичной считается микроцефалия, развитие которой произошло в результате наследования ребенком дефектных генов от одного или обоих родителей. К хромосомным заболеваниям относятся: </p>\r\n<ul>\r\n<li>Синдром Дауна; </li>\r\n<li>Синдром Эдвардса;  </li>\r\n<li>Синдром Патау; </li>\r\n<li>Синдром кошачьего крика и т.д. </li>\r\n</ul>\r\n<p>Вторичная микроцефалия развивается в результате воздействия неблагоприятных факторов в период эмбрионального развития плода, когда происходит закладка и формирование структур головного мозга. Генетический аппарат родителей при этом не нарушен. </p>\r\n<p>Вторичная микроцефалия может быть обусловлена: </p>\r\n<ul>\r\n<li>Вирусными заболеваниями (краснухой, цитомегалией, корью); </li>\r\n<li>Токсоплазмозом; </li>\r\n<li>Злоупотреблением алкоголем; </li>\r\n<li>Злоупотреблением наркотиками; </li>\r\n<li>Приемом некоторых медикаментов; </li>\r\n<li>Голоданием; </li>\r\n<li>Внутриутробной гипоксией плода; </li>\r\n<li>Механическими травмами. </li>\r\n</ul>",
            "pathogenesis": "<p>При первичной микроцефалии возникает остановка роста мозга (и вслед за ним черепа) без указаний на дегенеративный процесс или повреждение. Истинная микроцефалия всегда имеет наследственный характер. Она возникает в результате раннего пора­жения зародышевых клеток и обусловленного этим искаженного развития мозга. При этом отсутствуют признаки перенесенных мозговых заболеваний.  </p>\r\n<p>Вторичная (ложная, или церебропатическая) микро­цефалия возникает в результате рано перенесенного мозгового заболевания. Чаще оно носит воспалительный или травматиче­ский характер. </p>",
            "diagnostics": "<p>Диагностика микроцефалии включает: </p>\r\n<p>Жалобы и анамнез: уменьшение размеров головы, задержка в психоречевом развитии, снижение мышления, памяти, внимания, расторможенность, неусидчивость. Перинатальный анамнез отягощен, в анамнезе возможны перенесенные нейроинфекции. Окружность черепа не увеличивается или увеличивается незначительно. <br /> Физикальное обследование: маленькая окружность головы, лоб скошен, затылок уплощен, отмечается выраженная диспропорция между лицевым и мозговым черепом, большие выступающие уши. У 95% больных отмечается неврологическая симптоматика: нарушение мышечного тонуса, спастические парезы, судороги, умственная отсталость, расстройство координации движений, косоглазие. <br /> Инструментальные исследования: на ЭЭГ задержка формирования возрастной корковой ритмики, диффузные изменения электрогенеза головного мозга. </p>",
            "treatment": "<p>Современное лечение микроцефалии заключается в основном в симптоматической поддержке больного при помощи медикаментозных препаратов, а также в комплексных реабилитационных мероприятиях, направленных на максимальную адаптацию и социализацию ребенка. В качестве лекарственной терапии для лечения микроцефалии применяются препараты, улучшающие обменные процессы в мозговой ткани, витаминные комплексы и т. д. По показаниям - противосудорожные и седативные препараты. В рамках реабилитационных мероприятий детям с микроцефалией необходимы занятия лечебной физкультурой, массаж, трудотерапия.</p>",
            "prevention": "<p>Профилактика микроцефалии у детей предусматривает тщательное планирование беременности, обследование на инфекции (TORCH-комплекс, ПЦР), антенатальную охрану плода. Раннее внутриутробное выявление микроцефалии является основанием для решения вопроса об искусственном прерывании беременности. Медико-генетическое консультирование семей, имеющих детей с микроцефалией, необходимо для оценки потенциального риска при последующих беременностях.</p>",
            "clinical_picture": "<p>Объем черепа у ребенка с микроцефалией уменьшен уже при рождении, в дальнейшем его развитие заметно отстает от возрастной нормы. Отмечается преобладание лицевого черепа над мозговым. Типичный внешний вид больного с микроцефалией характеризуется узким и скошенным лбом, выступающими надбровными дугами, большими ушами. Большой родничок и черепные швы закрываются уже в первые месяцы жизни. В дальнейшем больные с микроцефалией обычно отстают в массе и росте (вплоть до карликовости), имеют диспропорциональное телосложение, узкое высокое (готическое) небо, большие редкие зубы. </p>\r\n<p>Неврологические нарушения при микроцефалии могут включать мышечную дистонию, спастические парезы, атаксию, судороги, косоглазие. Часто дети с микроцефалией могут страдать эпилепсией и детским церебральным параличом. Дети с микроцефалией поздно начинают держать головку, сидеть, ползать, ходить. Отмечается грубая задержка речевого развития, нечеткость артикуляции, резкая ограниченность словарного запаса, нарушение понимания обращенной речи. </p>\r\n<p>Степень интеллектуальных нарушений  у ребенка с микроцефалией может варьировать от дебильности до идиотии. При нерезко выраженной умственной отсталости больные с микроцефалией могут быть обучаемы, способны к самообслуживанию и выполнению несложных поручений. Однако в большинстве случаев дети с микроцефалией требуют ухода, контроля и надзора со стороны взрослых. </p>\r\n<p>По особенностям темперамента дети с микроцефалией могут быть отнесены к торпидной или эретической группе. В первом случае детям свойственна малоподвижность, вялость, безучастность к окружающему, пассивно-подражательная деятельность; во втором случае – гиперактивность, суетливость, подвижность, неустойчивое внимание. Эмоциональная сфера у больных с микроцефалией остается относительно сохранной: дети приветливы, добродушны; реже - эмоционально неустойчивы и склонны к аффективным вспышкам. </p>",
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