Синдром Бараката: клинический полиморфизм заболевания

Синдром Бараката (MIM#146255) — редкое аутосомно-доминантное заболевание, вызванное мутацией гена GATA3 и проявляющееся гипопаратиреозом (H), нейросенсорной глухотой (D) и почечной недостаточностью (R). HDR-синдром характеризуется высокой клинической вариабельностью. Точная распространенность этого заболевания неизвестна, в литературе описано 180 случаев. Представлены 2 клинических случая. У обоих пациентов выявлена гетерозиготная мутация de novo в гене GATA3. Наши наблюдения демонстрируют вариабельность клинических фенотипов и неблагоприятный прогноз заболевания у пациентов с синдромом Бараката. Синдром следует предполагать в случаях ранней выраженной глухоты и признаков заболевания почек для своевременной диагностики и назначения соответствующей терапии, включая профилактику прогрессирования хронической болезни почек.

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