Ферментопатии

Ферментопатии -                                          |                              | развития, костные     | биоптатах печени        |                             | |                                                                        |                                               |                              | аномалии                  |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Синдром Элерса — Данлоса (около 14            | Лизил-гидро-ксилаза              | Вскоре после         | Задержка                  | Определение               | Аскорбиновая       | | подтипов). Наследование аутосомно-              |                                               | рождения              | физического и           | содержания                 | кислота (большие | | рецессивное, аутосомно-доминантное,            |                                               |                              | нервно-психического | гидроксилизина в         | дозы)                   | | сцепленное с полом                                        |                                               |                              | развития,                  | биоптатах кожи,           |                             | |                                                                        |                                               |                              | чрезмерная               | активность лизил-        |                             | |                                                                        |                                               |                              | растяжимость           | гидроксилазы в            |                             | |                                                                        |                                               |                              | суставов, кожи,         | фибробластах             |                             | |                                                                        |                                               |                              | грыжи, кифосколиоз, |                                    |                             | |                                                                        |                                               |                              | плохое заживание     |                                    |                             | |                                                                        |                                               |                              | ран, варикозные        |                                    |                             | |                                                                        |                                               |                              | расширения вен,       |                                    |                             | |                                                                        |                                               |                              | пролапс                    |                                    |                             | |                                                                        |                                               |                              | митрального              |                                    |                             | |                                                                        |                                               |                              | клапана, иногда —    |                                    |                             | |                                                                        |                                               |                              | прогерия.                  |                                    |                             | |                                                                        |                                               |                              | Марфаноподобный    |                                    |                             | |                                                                        |                                               |                              | синдром                    |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Другие аномалии обмена, связанные с ферментопатиями                                                                                                                                                       | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Синдром Леша— Найхана (наследование        | Гипоксантин-гуанин-               | Первые месяцы     | Рвота, гипотония       | Повышение                  | Аллопуринол,       | | рецессивное, сцепленное с полом). Описано   | фосфорибозилтрансфераза   | жизни                    | мышц, задержка        | содержания мочевой   | щелочные            | | более 100 больных                                          |                                               |                              | психомоторного        | кислоты в крови и        | минеральные        | |                                                                        |                                               |                              | развития. Позднее    | моче. Определение     | воды Разработан  | |                                                                        |                                               |                              | гиперрефлексия,       | активности фермента  | метод                   | |                                                                        |                                               |                              | гипертонус мышц,     | в эритроцитах,             | пренатальной       | |                                                                        |                                               |                              | опистотонус,             | биоптатах печени        | диагностики.        | |                                                                        |                                               |                              | самоповреждения,    |                                    |                             | |                                                                        |                                               |                              | нефропатия, анемия  |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Острая перемежающаяся порфирия.              | Синтетаза уропорфириногена | Подростковый       | Приступы болей в     | Определение амино-    | Диета,                  | | Частота 1:50 000                                             | (порфобилиноген-деаминаза)  | возраст                 | животе, запоры,        | левулиновой кислоты   | обогащенная        | |                                                                        |                                               |                              | задержка                  | в крови,                       | углеводами,         | |                                                                        |                                               |                              | мочеотделения.        | порфобилиногена в      | психотропные       | |                                                                        |                                               |                              | Судороги,                 | моче                            | препараты            | |                                                                        |                                               |                              | психотические          |                                    |                             | |                                                                        |                                               |                              | состояния,                |                                    |                             | |                                                                        |                                               |                              | парестезии,               |                                    |                             | |                                                                        |                                               |                              | артериальная            |                                    |                             | |                                                                        |                                               |                              | гипертензия              |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Лейкоцитарные ферментопатии                                                                                                                                                                                                            | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Тяжелая                 | Аденозиндезаминаза лимфоцитов                                                  | 3—6       | Задержка развития,  | Исследование общего  | Антибиотики,        | | комбинированная    |                                                                                                       | мес.       | лимфопения,             | числа лимфоцитов, их | переливание         | | иммунологическая  |                                                                                                       | жизни    | гнойничковые            | субпопуляций.             | крови;                  | | недостаточность     |                                                                                                       |              | заболевания кожи,    | Определение               | разрабатывают     | |                               |                                                                                                       |              | гнойные отиты,          | активности                  | методы генной     | |                               |                                                                                                       |              | септический              | ферментов в               | терапии                | |                               |                                                                                                       |              | процесс, грибковый   | эритроцитах                |                             | |                               |                                                                                                       |              | сепсис,                     |                                    |                             | |                               |                                                                                                       |              | рахитоподобные        |                                    |                             | |                               |                                                                                                       |              | изменения костей      |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | То же                      | Пурин-нуклеотид-фосфорилаза лимфоцитов                                  | То же     | Синдром                   | То же                          | То же                   | |                               |                                                                                                       |              | иммунодефицита, Т- |                                    |                             | |                               |                                                                                                       |              | клеточная                 |                                    |                             | |                               |                                                                                                       |              | недостаточность.      |                                    |                             | |                               |                                                                                                       |              | Рецидивирующие      |                                    |                             | |                               |                                                                                                       |              | микробно-                 |                                    |                             | |                               |                                                                                                       |              | воспалительные        |                                    |                             | |                               |                                                                                                       |              | заболевания легких,  |                                    |                             | |                               |                                                                                                       |              | кожи, хронические    |                                    |                             | |                               |                                                                                                       |              | вирусные инфекции  |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Хроническая           | Оксидаза НАД- и НАДФ-фагоцитов                                                | Ранний  | Рецидивирующие      | Выявление                  | Антибиотики.        | | гранулематозная     |                                                                                                       | возраст  | гнойные процессы и  | нейтрофильного          | Прогноз                | | болезнь. Описано   |                                                                                                       |              | образование              | лейкоцитоза.                | неблагоприятный  | | наследование,        |                                                                                                       |              | множественных         | Исследование             |                             | | сцепленное с          |                                                                                                       |              | гранулем в легких,    | дыхательного              |                             | | полом. Частота не  |                                                                                                       |              | печени и др.              | «взрыва» фагоцитов,   |                             | | установлена           |                                                                                                       |              | органах,                    | NBT-тест,                    |                             | |                               |                                                                                                       |              | остеомиелиты,          | фагоцитарные             |                             | |                               |                                                                                                       |              | гепато- и                   | функции                      |                             | |                               |                                                                                                       |              | спленомегалия.         |                                    |                             | |                               |                                                                                                       |              | Перикардиты;            |                                    |                             | |                               |                                                                                                       |              | септический процесс |                                    |                             | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Дефицит                 | Миелопероксидаза                                                                         | То же     | Повторные                | Определение               | Прогноз более      | | миелопероксидазы. |                                                                                                       |              | микробно-                 | фагоцитарных             | благоприятный,    | | Частота 1: 2000      |                                                                                                       |              | воспалительные        | функций,                     | чем при                | |                               |                                                                                                       |              | заболевания легких,  | миелопероксидазы      | хронической         | |                               |                                                                                                       |              | грибковые инфекции  |                                    | гранулематозной  | |                               |                                                                                                       |              |                                  |                                    | болезни                | |-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- Библиогр.: Вельтищев Ю.Е. и др. Обмен веществ у детей, М., 1983; Врожденные и приобретенные энзимопатии, под ред. Т. Ташева, пер. с болг., М., 1980; Детские болезни, под ред. А.Ф. Тура и др., с. 564, М., 1985; Руководство по педиатрии, под ред. Р.Е. Бермака и В.К. Вогана, пер. с англ., т. 6, М., 1989.