2025 年第 4 期 第 20 卷

成人尼曼-皮克病合并噬血细胞综合征1例

Adult Niemann-Pick disease with hemophagocytic syndrome： a case report

作者：彭海英刘金凤谢文杰刘桂娟马育华高春海

英文作者：Peng Haiying Liu Jinfeng Xie Wenjie Liu Guijuan Ma Yuhua Gao Chunhai

单位：山东省临沂市人民医院检验医学中心山东省医药卫生重点实验室山东省临沂市检验医学重点实验室，临沂276003

英文单位：Laboratory Medicine Center Linyi People′s Hospital Shandong Province Key Laboratory of Medicine and Health of Shandong Province Key Laboratory of Laboratory Medicine in Linyi City Shandong Province Linyi 276003 China

关键词：噬血细胞综合征；尼曼-皮克病；脂质贮积病

英文关键词：Hemophagocyticsyndrome;Niemann-Pickdisease;Lipoidosis

• 摘要：

• 尼曼-皮克病（NPD）是一种罕见的脂质贮积病。噬血细胞综合征（HPS）是一种罕见的高炎症性疾病，可由感染、恶性肿瘤或自身免疫性疾病引发。由于报道的病例数量有限，NPD合并HPS的临床特征尚不清楚。本文介绍1例41岁男性因皮肤黄染、乏力2个月，慢性肝功能衰竭入院患者。骨髓穿刺发现大量尼曼-皮克细胞并伴有红细胞吞噬现象。患者病情发展迅速，经积极诊治最终家属放弃，22 d时死亡。这是少有的在成年患者身上发现NPD合并HPS现象。现对该病例进行报道，旨在提高临床医师对本病的认识，避免误诊、漏诊。

• Niemann-Pick disease (NPD) is a rare lipid storage disease. Hemophagocytic syndrome (HPS) is a rare and highly inflammatory disease, which can be triggered by infection, malignant tumors, or autoimmune diseases. Due to the limited number of reported cases, the clinical features of NPD with HPS are unknown. A 41-year-old man was admitted to the hospital due to yellow skin, fatigue for 2 months, and chronic liver failure. Bone marrow aspiration revealed a large number of Niemann-Pick cells with erythrocyte phagocytosis. The patient′s condition developed rapidly, and his family finally gave up after active diagnosis and treatment, and he died at day 22. This is one of the rare HPS phenomenon associated with NPD found in adult patients. This case is reported in order to improve clinicians′ understanding of the disease and avoid misdiagnosis and missed diagnosis.