B型尼曼-皮克病及其肝脏受累的异质性表现1例报告

阳乔; 沈轶; 史悦; 王进; 吕芳芳

doi:10.12449/JCH240221

B型尼曼-皮克病及其肝脏受累的异质性表现1例报告

DOI: 10.12449/JCH240221

阳乔^{1a, 2},
沈轶^1b,
史悦^1c,
王进^1c,
吕芳芳^1a, , ,

1a.
浙江大学医学院附属邵逸夫医院肝病感染科，杭州 310016
1b.
浙江大学医学院附属邵逸夫医院生物医学研究中心，杭州 310016
1c.
浙江大学医学院附属邵逸夫医院病理科，杭州 310016
2.
浙江大学医学院附属邵逸夫医院新疆兵团阿拉尔医院感染科，新疆阿拉尔 843399

基金项目:

浙江省自然科学基金 (LY21H030011);

浙江省医药卫生科技青年创新人才支持计划项目 (2022RC196)

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：阳乔负责病例收集，撰写论文；沈轶负责信息收集，文献检索；史悦、王进负责数据和病理图谱收集；吕芳芳负责诊治策略和论文审阅及修改。

详细信息

通信作者:
吕芳芳， lvfangfang@zju.edu.cn （ORCID： 0000-0001-8573-350X）

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出版历程
- 收稿日期: 2023-05-28
- 录用日期: 2023-08-01
- 出版日期: 2024-02-19

Niemann-Pick disease type B and heterogeneous manifestations of its liver involvement： A case report

Qiao YANG^{1a, 2},
Yi SHEN^1b,
Yue SHI^1c,
Jin WANG^1c,
Fangfang LYU^{1a
, ,
,}

1a.
Department of Infectious Diseases，Sir Run Run Shaw Hospital，Zhejiang University School of Medicine，Hangzhou 310016，China
1b.
Biomedical Research Center，Sir Run Run Shaw Hospital，Zhejiang University School of Medicine，Hangzhou 310016，China
1c.
Department of Pathology，Sir Run Run Shaw Hospital，Zhejiang University School of Medicine，Hangzhou 310016，China
2.
Department of Infectious Diseases，Sir Run Run Shaw Alar Hospital，Zhejiang University School of Medicine，Alar，Xinjiang 843399，China

Research funding:

Zhejiang Provincial Natural Science Foundation of China (LY21H030011);

Zhejiang Medical Health Science and Technology Program-Young Innovative Support Program (2022RC196)

More Information

Corresponding author: LYU Fangfang， lvfangfang@zju.edu.cn （ORCID： 0000-0001-8573-350X）

摘要

摘要: 本文报道以“肝脾肿大待查”为主诉，经各项检查确诊为B型尼曼-皮克病的案例，并通过文献复习，总结B型尼曼-皮克病肝脏受累的异质性表现，旨在提高疑难罕见肝脏疾病的临床诊治水平。
- 尼曼-皮克病， B型 /
- 肝肿大 /
- 遗传性疾病，先天性 /
- 基因检测
Abstract: This article reports a case with the chief complaint of “hepatosplenomegaly to be investigated” and a confirmed diagnosis of Niemann-Pick disease type B after various tests， and a literature review was conducted to summarize the heterogeneous manifestations of liver involvement in type B Niemann-Pick disease， in order to improve the clinical management of difficult and rare liver diseases.
- Niemann-Pick Disease， Type B /
- Hepatomegaly /
- Genetic Diseases， Inborn /
- Genetic Testing

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图 1 肺部CT

注：两肺未见活动性或间质性病变。

Figure 1. Lung CT scan

下载: 全尺寸图片幻灯片

图 2 上腹部CT平扫

注： a，脾脏肿大；b，肝脏肿大。

Figure 2. Upper abdominal CT scan

下载: 全尺寸图片幻灯片

图 3 腹部增强CT+门静脉CT血管造影

注： a，门静脉扩张，门静脉高压；b，脾静脉增宽迂曲，脾肿大。

Figure 3. Upper abdominal CT enhancement and enhanced CT of portal vein

下载: 全尺寸图片幻灯片

图 4 骨髓穿刺病理组织学检查

注；a，骨髓组织增生活跃伴多灶泡沫细胞（尼曼-皮克细胞），箭头所示细胞体积大、胞质淡染且含吞噬颗粒（HE染色，×100）；b，骨髓组织CD68阳性细胞大量表达，提示为吞噬脂质的尼曼-皮克细胞（DAB染色，×400）。

Figure 4. Bone marrow aspiration and biopsy

下载: 全尺寸图片幻灯片

图 5 患者遗传病基因检测结果

注： a，SMPD1_ex2 c.742G>T（p.Glu248*）受检者Sanger测序验证图（正向，检出），NCBI参考序列ATACTGGGGCGAATACAGCAA；b，SMPD1_ex2 c.995C>G（p.Pro332Arg）受检者Sanger测序验证图（正向，检出），NCBI参考序列TTCCCTCCCCCCTTCATTGAG。

Figure 5. Ggenetic testing in the patient

下载: 全尺寸图片幻灯片

图 6 患者母亲固定位点Sanger测序的验证报告

注： a，NM_000543.4（SMPD1）c.742G>T（p.Glu248*）Sanger测序验证图（正向，检出），NCBI参考序列ATACTGGGGCGAATACAGCAA；b，NM_000543.4（SMPD1）c.995C>G（p.Pro332Arg）Sanger测序验证图（正向，未检出），NCBI参考序列TTCCCTCCCCCCTTCATTGAG。

Figure 6. Validation report of Sanger sequencing of the patient’s mother

下载: 全尺寸图片幻灯片

图 7 患者父亲固定位点Sanger测序的验证报告

注： a，NM_000543.4（SMPD1）c.742G>T（p.Glu248*）Sanger测序验证图（正向，未检出），NCBI参考序列ATACTGGGGCGAATACAGCAA；b，NM_000543.4（SMPD1）c.995C>G（p.Pro332Arg）Sanger测序验证图（正向，检出），NCBI参考序列TTCCCTCCCCCCTTCATTGAG。

Figure 7. Validation report of Sanger sequencing of the patient’s father

下载: 全尺寸图片幻灯片

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