Синдром Чедиака-Хигаси (обзор литературы и собственные клинические наблюдения)

Статья в Elpub

Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 27-33

Синдром Чедиака-Хигаси (обзор литературы и собственные клинические наблюдения)

Родина Юлия Александровна, Матвеев Виктор Евгеньевич, Балашов Дмитрий Николаевич, Дубровина Мария Эдуардовна, Щербина Анна Юрьевна

https://doi.org/10.24287/1726-1708-2016-15-1-27-33

Аннотация

Синдром Чедиака-Хигаси (СЧХ) - редкое иммунодефицитное состояние с аутосомно-рецессивным типом наследования, обусловленное мутацией в гене LYST/CHS1, кодирующем соответствующий белок-регулятор лизосомального транспорта. СЧХ характеризуется ранним дебютом, яркой клинической картиной и определенными лабораторными признаками (глазо-кожный альбинизм, гигантские пероксидазаположительные гранулы в гранулосодержащих клетках) и высоким риском развития гемофагоцитарного лимфогистиоцитоза (фазы «акселерации»), в большинстве случаев являющегося фатальным. Трансплантация гемопоэтических стволовых клеток (ТГСК) - единственный метод излечения данного заболевания. Лучшие результаты общей выживаемости пациентов с СЧХ достигнуты при выполнении ТГСК до развития фазы «акселерации», а также с использованием режимов кондиционирования со сниженной интенсивностью. В статье представлен опыт диагностики и лечения трех пациентов с СЧХ с различной степенью тяжести и осложнениями основного заболевания. Согласно международным рекомендациям двум пациентам выполнена ТГСК с режимом кондиционирования со сниженной интенсивностью. По результатам катамнеза (длительность наблюдения 4 мес и 1 год) достигнута полная гематологическая реконституция.

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Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 27-33

Chediak-Higashi syndrome (Review of literature and clinical case reports)

Rodina Yuliya A., Matveev Victor E., Balashov Dmitry N., Dubrovina Maria E., Shcherbina Anna Yu.

https://doi.org/10.24287/1726-1708-2016-15-1-27-33

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency, caused by mutation in LYST-CHS1 gene, encoding the respective protein regulating the lysosomal transport. The syndrome is characterized by early onset, specific clinical features and laboratory signs (oculocutaneous albinism, the presence of peroxidase-positive giant granules in granule containing cells), a high risk of hemophagocytic lymphohistiocytosis (accelerated phase), and is fatal in the majority of cases. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment. The best results of overall survival of CHS patients are attained if HSCT is carried out before the accelerated phase and with the use of reduced intensity conditioning. The authors present the experience gained in the diagnosis and treatment of three patients with CHS of different severity and with complications of the underlying disease. Two patients received HSCT with reduced intensity conditioning in accordance with the international recommendations. The results of catamnesis (duration of follow-up 4 months and 1 year) indicated complete hematological reconstitution.

References