Гемохроматозы у детей: патогенез, клиника, диагностика, принципы терапии
Диссертация
Частота выявления HT в США составляет 1,5−3 больных на 1000 населения (Steinberg К. 2001, Ioannou G., 2002, Bonkovsky, 2003). В Северной Европе популяционная частота мажорных мутаций НГ достигает 24% (Barton J., 2003, Beutler Е., 2003, Andersen R. 2004, Bhavnani M., -2006, Aranda N., 2010). В России — частота мутации H63D достигает 16%, а среди больных с начальными признаками перегрузки железом… Читать ещё >
Содержание
- Список сокращений
- Цели и задачи
- Глава I. Обзор литературы «Синдром перегрузки железом у взрослых и детей: механизмы гепатотоксичности железа, это логические аспекты наследственного гемохрматоза и вторичной перегрузки»
- 1. 1. Физиология и патофизиология перегрузки железом
- 1. 2. Современное представление о наследственном гемохроматозе
- 1. 3. Молекулярно-генетическое исследование НГ, значение частых мутаций
- 1. 4. Клинические проявления
- 1. 5. Фенотипическая диагностика
- 1. 6. Качественное и количественное определение железа в биоптатах печени
- 1. 7. Лечение
- 1. 8. Прогноз
- Глава II. Материалы и методы исследования
- Глава III. Результаты собственных наблюдений
- Референсные значения ферритина у детей и подростков на основе комплексного изучения обмена железа
- Глава IV. Обмен железа у детей с диффузными заболеваниями печени и другой соматической патологией
- 4. 1. Распространенность вариантов обмена железа у детей
- 4. 2. Обмен железа у детей с диффузными заболеваниями печени. 85 4.3 Активность матриксных металлопротеиназ (ММП-2 и ММП-9) и их ингибитора (ТИМП-1) у детей с перегрузкой железом
- 4. 4. Количественное исследование железа в биоптатах печени
- 4. 5. Особенности морфологического исследования биоптатов печени при перегрузке железом
- Глава V. Сравнительная оценка клинико-лабораторных данных детей с частыми мутациями наследственного гемохроматоза
- 5. 1. Результаты молекулярно-генетического исследования частых мутаций (C282Y, H63D, S65C) в гене HFE
- 5. 2. Показатели обмена железа в зависимости от результатов молекулярно-генетического исследования в гене HFE
- 5. 3. Жалобы и клинические проявления у детей с мутациями наследственного гемохроматоза и вторичной перегрузкой железом
- 5. 4. Данные лабораторных исследований
- 5. 5. Данные инструментальных исследований
- 5. 6. Мутации НГ у детей с аутосомно-рецессивными заболеваниями целиакия, гликогеновая болезнь)
- Глава V. 2. Семейный анамнез детей с с частыми мутациями НГ
- Глава V. 3. Принципы терапии синдрома перегрузки железом и оценка эффективности сидеропенической терапии
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