Medicine · 2024
Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chen Bing, Dai Wenchu, Xu Yuni, Wang Feng, Liu Jinlin
Аннотация
RATIONALE: Gaucher disease (GD) is a rare hereditary lysosomal storage disorder disease progression and inappropriate treatment. However, not all patients with GD receive timely diagnosis and treatment.
PATIENT CONCERNS: Early diagnosis is important for initiating proper treatment and preventing complications.
DIAGNOSES: Two patients were diagnosed as GD in this study.
INTERVENTIONS AND OUTCOMES: These 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up.
LESSONS: Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive β-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.
PATIENT CONCERNS: Early diagnosis is important for initiating proper treatment and preventing complications.
DIAGNOSES: Two patients were diagnosed as GD in this study.
INTERVENTIONS AND OUTCOMES: These 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up.
LESSONS: Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive β-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.