Причины ложной диагностики полимиозита у пациентов с дисферлинопатией: клинический случай

Дифференциальная диагностика воспалительных миопатий, сопровождающихся вторичным воспалительным процессом, с наследственными мышечными дистрофиями является сложной и трудоемкой клинико‑патоморфологической задачей. В частности, ложная диагностика полимиозита у пациентов с дисферлинопатией достигает 25 % случаев.
Представлена пациентка 40 лет с поясно‑конечностным фенотипом дисферлинопатии, первично диагностированной как полимиозит. Причины, повлекшие ошибочную диагностику: спорадическое происхождение; подострый дебют; проксимальная мышечная слабость; миалгия, купировавшаяся на фоне глюкокортикостероидной терапии; повышение уровня креатинфосфокиназы (до 17 раз); наличие лимфоцитарно‑макрофагального инфильтрата в мышечном биоптате и отсутствие данных магнитно‑резонансной томографии при первичном обследовании.
Рефрактерность клинико‑лабораторных признаков к комплексной иммуносупрессивной терапии послужила причиной пересмотра результатов биопсии мышцы с типированием воспалительного инфильтрата. Невыраженный, преимущественно периваскулярный инфильтрат характеризовался преобладанием макрофагов и, в меньшей степени, CD4+, что указывало на вторичный характер воспаления в мышечной ткани, наблюдаемого при некоторых наследственных мышечных дистрофиях. При проведении иммуногистохимической реакции выявлено отсутствие белка дисферлина в саркоплазматической мембране.
В ходе полноэкзомного секвенирования (NGS) выявлена мутация в 39‑м экзоне гена DYSF (p.Gln1428Ter) в гетерозиготном состоянии, приводящая к появлению стоп‑кодона и преждевременной терминации трансляции белка. Методом MLPA зарегистрировано по 3 копии 18, 19, 20, 22, 24‑го экзонов гена DYSF. Клинический случай отражает основные ошибки оценки результатов обследования и эффективности иммуносупрессивной терапии у пациентов с дисферлинопатией.

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