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search, age, gender, parent, symptoms, sort_name, sort_by, rand, branches
GET /disease/?format=api&ordering=code&page=136
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

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                    "disease_count": null,
                    "name": "неврология",
                    "code": "B23",
                    "branch_medicine_code": "023",
                    "slug": "nevrologiya",
                    "lead": "ЛидОбласть медицины, включающая в себя лечение 1036 заболеваний. В 1140 клиниках России оказывается помощь по этому направлению медицины.",
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                    "disease_count": null,
                    "name": "пульмонология",
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                    "branch_medicine_code": "037",
                    "slug": "pulmonologiya",
                    "lead": "Область медицины, включающая в себя лечение 145 заболеваний. В 181 клинике России оказывается помощь по этому направлению медицины.",
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                {
                    "id": 65,
                    "disease_count": null,
                    "name": "стоматология терапевтическая",
                    "code": "B65",
                    "branch_medicine_code": "065",
                    "slug": "stomatologiya_terapevticheskaya",
                    "lead": "Область медицины, включающая в себя лечение 87 заболеваний. В 1270 клиниках России оказывается помощь по этому направлению медицины.",
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                    "id": 16,
                    "disease_count": null,
                    "name": "клиническая лабораторная диагностика",
                    "code": "B16",
                    "branch_medicine_code": "016",
                    "slug": "klinicheskaya_laboratornaya_diagnostika",
                    "lead": "Область медицины, включающая в себя лечение 2214 заболеваний. В 886 клиниках России оказывается помощь по этому направлению медицины.",
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                {
                    "id": 3,
                    "disease_count": null,
                    "name": "анестезиология и реаниматология",
                    "code": "B3",
                    "branch_medicine_code": "003",
                    "slug": "anesteziologiya_i_reanimatologiya",
                    "lead": "Область медицины, включающая в себя лечение 1066 заболеваний. В 376 клиниках России оказывается помощь по этому направлению медицины.",
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                    "id": 24,
                    "disease_count": null,
                    "name": "нейрохирургия",
                    "code": "B24",
                    "branch_medicine_code": "024",
                    "slug": "neyrohirurgiya",
                    "lead": "Область медицины, включающая в себя лечение 173 заболеваний. В 95 клиниках России оказывается помощь по этому направлению медицины.",
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                    "id": 28,
                    "disease_count": null,
                    "name": "оториноларингология",
                    "code": "B28",
                    "branch_medicine_code": "028",
                    "slug": "otorinolaringologiya",
                    "lead": "Область медицины, включающая в себя лечение 685 заболеваний. В 631 клинике России оказывается помощь по этому направлению медицины.",
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                    "id": 47,
                    "disease_count": null,
                    "name": "терапия",
                    "code": "B47",
                    "branch_medicine_code": "047",
                    "slug": "terapiya",
                    "lead": "Область медицины, включающая в себя лечение 908 заболеваний. В 1399 клиниках России оказывается помощь по этому направлению медицины.",
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                    "id": 53,
                    "disease_count": null,
                    "name": "урология, детская урология андрология",
                    "code": "B53",
                    "branch_medicine_code": "053",
                    "slug": "urologiya_detskaya_urologiya_andrologiya",
                    "lead": "Область медицины, включающая в себя лечение 430 заболеваний. В 596 клиниках России оказывается помощь по этому направлению медицины.",
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                    "id": 4,
                    "disease_count": null,
                    "name": "гастроэнтерология",
                    "code": "B4",
                    "branch_medicine_code": "004",
                    "slug": "gastroenterologiya",
                    "lead": "Область медицины, включающая в себя лечение 211 заболеваний. В 341 клинике России оказывается помощь по этому направлению медицины.",
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                    "id": 29,
                    "disease_count": null,
                    "name": "офтальмология",
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                    "branch_medicine_code": "029",
                    "slug": "oftalmologiya",
                    "lead": "Область медицины, включающая в себя лечение 851 заболевания. В 696 клиниках России оказывается помощь по этому направлению медицины.",
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                    "id": 35,
                    "disease_count": null,
                    "name": "психиатрия и судебно психологическая экспертиза",
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                    "slug": "psihiatriya_i_sudebno_psihologicheskaya_ekspertiza",
                    "lead": "Область медицины, включающая в себя лечение 486 заболеваний. В 491 клинике России оказывается помощь по этому направлению медицины.",
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                    "disease_count": null,
                    "name": "аллергология и иммунология",
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                    "slug": "allergologiya_i_immunologiya",
                    "lead": "Область медицины, включающая в себя лечение 66 заболеваний. В 202 клиниках России оказывается помощь по этому направлению медицины.",
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            "code": "G10",
            "name": "Болезнь Гентингтона",
            "icd_name": "Болезнь Гентингтона",
            "gender": 0,
            "age_min": 5,
            "age_max": 89,
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            "lead": "тяжелое прогрессирующее нейродегенеративное наследственное заболевание головного мозга",
            "description": "Болезнь Гентингтона  - одно из тяжелейших и постоянно прогрессирующих наследственных заболеваний нервной системы, обусловленной системной дегенерацией экстрапирамидных двигательных структур и коры головного мозга.",
            "etiology": "<p>Причиной болезни Гентингтона является мутация гена на 4-й хромосоме, кодирующего белок гентингтин. Нарушение синтеза этого белка предопределяет избирательное повреждение нейронов базальных ганглиев различных структур мозга, прежде всего коры и экстрапирамидной системы. Заболевание передается по аутосомно-доминантному типу, при этом патологический ген проявляется очень часто, и к 70 годам болезнь проявляется практически у всех его носителей. Дети наследуют заболевание от одного из родителей с вероятностью 50 %.</p>",
            "pathogenesis": "<p>Патогенез болезни Гентингтона малоизучен, однако известно, что первопричиной ее возникновения является мутация гена на четвертой хромосоме, вследствие чего нарушается синтез белка гентингтина, происходит его кодирование. Строение данного белка представляет собой повторяющиеся триплеты аминокислотных цепочек (цитозин-аденин-гуанин), из-за мутации гена происходит увеличение количества триплетов, удлинение аминокислотной цепочки. Белок гентингтин меняет свою информацию, соединяясь с другими белками, изменяется взаимодействие между ними. Это приводит к гибели нейронов одного из отделов головного мозга, повреждению стриатума («полосатого тела»), а также коры головного мозга.</p>",
            "diagnostics": "<p>Физикальное обследование, иногда в сочетании с психологическим обследованием, позволяет определить область распространения болезни. </p>\r\n<p>Медицинская визуализация (компьютерная томография(КТ), магнитно-резонансная томография (МРТ) показывает только видимую атрофию мозга на прогрессирующей стадии заболевания. Методы функциональной нейровизуализации (фМРТ и позитронно-эмиссионная томография (ПЭТ)) могут показать изменения в активности мозга до появления клинических симптомов.</p>\r\n<p>Для проведения генетической диагностики болезни Хантингтона необходим забор крови с последующим определением количества повторов ЦАГ в каждом НТТ-аллеле. Положительный результат не подтверждает диагноз, поскольку может быть получен за несколько лет до появления первых симптомов. Однако отрицательный результат однозначно свидетельствует об отсутствии вероятности развития болезни Хантингтона.</p>\r\n<p>Эмбрионы, полученные в результате экстракорпорального оплодотворения, могут быть подвержены генетической диагностике болезни Хантингтона с применением преимплантационной генетической диагностики. При этом методе забирается одна клетка из 4-8-клеточного эмбриона и затем проверяется на генетическую патологию. Полученная информация может впоследствии быть использована при выборе здорового эмбриона для имплантации. Кроме того, возможна пренатальная диагностика для эмбриона или плода в утробе матери.</p>",
            "treatment": "<p>В настоящее время отсутствует возможность предупредить прогрессирование заболевания, и лечение носит чисто симптоматический характер.</p>\r\n<p>Для уменьшения гиперкинеза используют нейролептики и бензодиазепины. При депрессии показаны амитриптилин или другие антидепрессанты. При акинетикоригидной форме применяют антипаркинсонические средства, но их эффект обычно невелик. Определенную роль играет лечебная физкультура, направленная на предупреждение контрактур и деформаций, поддержание навыков передвижения.</p>",
            "prevention": "<p>Единственным методом первичной профилактики является медико-генетическое консультирование. При данном заболевании МГК позволяет:</p>\r\n<ul>\r\n<li>установить диагноз и тип наследования заболевания в консультируемой семье;</li>\r\n<li>определить генетический риск у консультируемых родственников, в т.ч. с помощью ДНК-диагностики (прогностическое тестирование);</li>\r\n<li>определить прогноз потомства и наиболее эффективный способ профилактики новых случаев заболевания (в т.ч. с помощью пренатальной и преимплантационной ДНК-диагностики);</li>\r\n<li>объяснить консультируемым лицам смысл полученной и проанализированной информации, оказать помощь в решении возникающих юридических, психологических, морально-этических, социальных и иных проблем.</li>\r\n</ul>",
            "clinical_picture": "<p>Симптомы болезни Хантингтона могут проявиться в любом возрасте, но чаще это происходит в 35-44 года. На ранних стадиях происходят небольшие изменения личности, когнитивных способностей и физических навыков. Обычно первыми обнаруживают физические симптомы, так как когнитивные и психические расстройства не столь выражены в ранних стадиях. Почти у всех пациентов болезнь Хантингтона в итоге проявляется схожими физическими симптомами, но начало заболевания, прогрессирование и степень когнитивных и психических нарушений различаются у отдельных лиц.</p>\r\n<p>Для начала заболевания наиболее характерна хорея — беспорядочные, неконтролируемые движения. Хорея в начале может проявляться в беспокойстве, небольших непроизвольных или незавершённых движениях, нарушении координации и замедлении скачкообразных движений глаз.</p>\r\n<p>В самом начале обычно возникают проблемы из-за физических симптомов, которые выражаются в резких, внезапных и не поддающихся контролю движениях. В других случаях, наоборот, больной двигается слишком замедленно. Возникают нарушения координации движений, речь становится невнятной. Постепенно все функции, требующие мышечного контроля, нарушаются: человек начинает гримасничать, испытывает проблемы с жеванием и глотанием. Из-за быстрого движения глаз происходят нарушения сна. Обычно больной проходит через все стадии физического расстройства, однако влияние болезни на когнитивные функции у всех очень индивидуально. Чаще всего происходит расстройство абстрактного мышления, человек перестаёт быть способным планировать свои действия, следовать правилам, оценивать адекватность своих действий. Постепенно появляются проблемы с памятью, может возникнуть депрессия и паника, эмоциональный дефицит, эгоцентризм, агрессия, навязчивые идеи, проблемы с узнаванием других людей, гиперсексуальность и усиление вредных привычек, таких как алкоголизм или игромания.</p>",
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            "code": "G12",
            "name": "Спинальная мышечная атрофия и родственные синдромы",
            "icd_name": "Спинальная мышечная атрофия и родственные синдромы",
            "gender": 0,
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            "age_max": 100,
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            "slug": "g12_spinalnaya_myshechnaya_atrofiya_i_rodstvennye_sindromy",
            "lead": "Нарушение здоровья, относящееся к группе системные атрофии, поражающие преимущественно центральную нервную систему",
            "description": "Термин “спинальная мышечная атрофия” (СМА), или “спинальная амиотрофия”, является широким понятием, объединяющим группу заболеваний, сопровождающихся дегенерацией двигательных нейронов в спинном мозге и (или) стволе головного мозга и характеризующихся преимущественно аутосомно-рецессивным типом наследования. ",
            "etiology": "<p>В большинство случаев СМА обусловлена дефицитом протеина мотонейронов, именуемым SMN (протеин выживаемости мотонейронов) </p>\r\n<p>Этот протеин, как следует из его названия, необходим для нормального функционирования мотонейронов.  </p>\r\n<p>SMN – связанная СМА обычно подразделяется на 3 категории. Тип 1 — наиболее тяжелый, с самым ранним началом, а тип 3 — наименее тяжелый, с наиболее поздним возрастом начала. Некоторые специалисты выделяют еще тип 4 для обозначения умеренной или мягкой СМА с дебютом во взрослом возрасте </p>\r\n<p>Все эти типы связаны с генетическими поломками (мутациями) на хромосоме 5, что влияет на количество синтезируемого SMN – протеина. Более высокие уровни протеина снижают тяжесть СМА. </p>\r\n<p>Существуют также формы СМА, не связанные с протеином SMN и не являющиеся результатом мутаций на хромосоме 5. </p>",
            "pathogenesis": "<p>СМА вызвана мутацией в гене SMN1, который в норме производит белок SMN.</p>\r\n<p>Из-за мутации гена, у людей с СМА производится меньшее количество белка SMN, что приводит к потере моторных нейронов.</p>",
            "diagnostics": "<p>При подозрении — консультация невролога и генетика.  </p>\r\n<p>Биохимия крови: креатинкиназа — в норме при СМА тип I, в норме или незначительно повышена при других типах.  </p>\r\n<p>Генетическое обследование: пренатально или постнатально. Тест ДНК путем определения выпадения гена SMN1.  </p>\r\n<p>Электронейромиография — показывает снижение нервных импульсов, помогает дифференцировать СМА от других нервно-мышечных болезней. Сенсорная нервная проводимость обычно нормальная.  </p>\r\n<p>Биопсия мышц — гистологические признаки атрофии мышечных волокон, помогает дифференцировать СМА от других нервно-мышечных болезней.  </p>",
            "treatment": "<p>Специального лечения пока не разработано.  </p>\r\n<p>Необходимы мультипрофессиональный подход и паллиативная помощь для улучшения качества жизни. </p>\r\n<ol>\r\n<li>Помощь в передвижении и самообслуживании.  </li>\r\n<li>Фиксация корпуса и конечностей (корсеты, туторы и др.).  </li>\r\n<li>Физиотерапия, эрготерапия (восстановлением утраченных двигательных навыков), физическая терапия и специальные сиденья могут уменьшить развитие контрактур суставов и сколиоза.  </li>\r\n<li>Дыхательные упражнения.  </li>\r\n<li>Респираторная поддержка, в том числе ИВЛ (неинвазивная через маску или инвазивная через трахеостому), может понадобиться на дому при прогрессировании болезни. </li>\r\n<li>Кормление через гастростому необходимо при прогрессировании проблем с глотанием. </li>\r\n</ol>",
            "prevention": "<p>Возможна только пассивная профилактика — консультирование родителей с риском СМА о возможных последствиях и пренатальная ДНК-диагностика во время беременности через биопсию ворсин хориона для принятия решения о рождении или прерывании беременности. </p>",
            "clinical_picture": "<p>Наиболее тяжёлой формой является I тип спинальной мышечной атрофии (синдром Верднига-Гоффмана), манифестирующий в раннем детстве (в первые 6 месяцев). Характерен синдром «вялого ребёнка» (слабый крик, сниженная двигательная активность, вялое сосание, потеря массы тела, сниженные глотательный, сосательный и кашлевой рефлексы). Такие дети неспособны удерживать головку, переворачиваться и сидеть, отстают в моторном развитии (грубая задержка). Могут развиваться деформации суставов и конечностей, контрактуры, дыхательные и бульбарные нарушения (расстройство глотания (дисфагия), нарушение артикуляции (дизартрия) и звучности речи (дисфония). Средняя продолжительность жизни таких детей – 2 года. Причиной смерти, как правило, становится тяжёлая дыхательная недостаточность или развитие пневмонии. </p>\r\n<p>Для II типа спинальной амиотрофии характерны более поздняя манифестация (6-18 месяцев) и хронически прогрессирующее течение. У таких детей наблюдается отставание в моторном развитии, тремор пальцев, прогрессирование слабости кашлевого рефлекса, поверхностного диафрагмального дыхания и межрёберных мышц. В начале дети с данной формой заболевания могут ползать, сидеть без поддержки, а некоторые и стоять при поддержке, но эти способности утрачиваются по мере роста и увеличения массы тела. Формируются скелетные и мышечные деформации (в том числе сколиоз, деформации грудной клетки и псевдогипертрофия икроножной мышцы), контрактуры, а также возникают нарушения дыхания (вплоть до развития дыхательной недостаточности). </p>\r\n<p>Наиболее лёгкое течение из детских форм характерно для III типа спинальной мышечной атрофии (синдрома Кугельберга-Веландера). Первые проявления, как правило, обнаруживаются у детей после 1,5 лет и характеризуются сложностями с комплексными двигательными навыками (бег, подъём по ступенькам и т.п.). Симптоматика прогрессирует медленно, нарушения глотания и жевания развиваются значительно позже. </p>\r\n<p>Взрослая форма (тип IV) имеет мягкое течение, при котором наиболее часто первыми поражаются мышцы плечевого пояса. </p>",
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