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

Qiao YANG; Yi SHEN; Yue SHI; Jin WANG; Fangfang LYU

doi:10.12449/JCH240221

Volume 40 Issue 2

Feb. 2024

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Article Navigation > Journal of Clinical Hepatology > 2024 > 40(2): 356-360

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

DOI: 10.12449/JCH240221

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）
Received Date: 2023-05-28
Accepted Date: 2023-08-01
Published Date: 2024-02-19

Abstract

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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References

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

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

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