两例迟发性血小板增多伴脾肿大的病例报告。
Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly.
机构信息
Department of Clinical Laboratory, Wenchang People's Hospital, Wenchang, Hainan, China.
Department of Clinical Laboratory, Xian No. 1 Hospital, Xian, Shanxi, China.
出版信息
Medicine (Baltimore). 2024 Aug 23;103(34):e39354. doi: 10.1097/MD.0000000000039354.
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.
背景
戈谢病（GD）是一种罕见的遗传性溶酶体贮积病，病情进展和治疗不当。然而，并非所有 GD 患者都能得到及时诊断和治疗。
关注点
早期诊断对于启动适当的治疗和预防并发症很重要。
病例报告
本研究中诊断出 2 例 GD 患者。
干预措施和结果
这 2 例患者接受了伊米苷酶酶替代治疗，随访时症状明显改善。
结论
我们报告了 2 例 GD 患者延迟诊断的情况，以提高对罕见病的认识和教育。然而，在骨髓抽吸之前，尚未进行非侵入性β-葡糖脑苷脂酶活性或 GBA 基因检测，这些检测是非侵入性和可靠的，可提示 GD 的诊断。
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