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

Turn off MathJax

Article Contents

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

PDF( 1123 KB)

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

FullText(HTML)

References(23)

References

[1]	PINTO C, SOUSA DA, GHILAS V, et al. Acid sphingomyelinase deficiency: A clinical and immunological perspective[J]. Int J Mol Sci, 2021, 22( 23): 12870. DOI: 10.3390/ijms222312870.
[2]	SCHUCHMAN EH, DESNICK RJ. Types A and B Niemann-Pick disease[J]. Mol Genet Metab, 2017, 120( 1-2): 27- 33. DOI: 10.1016/j.ymgme.2016.12.008.
[3]	VÉLEZ PINOS PJ, SAAVEDRA PALACIOS MS, COLINA ARTEAGA PA, et al. Niemann-Pick disease: A case report and literature review[J]. Cureus, 2023, 15( 1): e33534. DOI: 10.7759/cureus.33534.
[4]	COLOGNA SM, PATHMASIRI KC, PERGANDE MR, et al. Alterations in cholesterol and phosphoinositides levels in the intracellular cholesterol trafficking disorder NPC[J]. Adv Exp Med Biol, 2023, 1422: 143- 165. DOI: 10.1007/978-3-031-21547-6_5.
[5]	ZHANG HW, WANG Y, GONG ZW, et al. Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease[J]. Orphanet J Rare Dis, 2013, 8: 15. DOI: 10.1186/1750-1172-8-15.
[6]	LAN MY, LIN SJ, CHEN YF, et al. A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease[J]. Ann Hematol, 2009, 88( 7): 695- 697. DOI: 10.1007/s00277-008-0648-8.
[7]	CHEEMA HA, RASOOL IG, ANJUM MN, et al. Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients[J]. Pak J Med Sci, 2020, 36( 3): 479- 484. DOI: 10.12669/pjms.36.3.467.
[8]	WASSERSTEIN MP, DESNICK RJ, SCHUCHMAN EH, et al. The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study[J]. Pediatrics, 2004, 114( 6): e672- e677. DOI: 10.1542/peds.2004-0887.
[9]	LIPIŃSKI P, KUCHAR L, ZAKHAROVA EY, et al. Chronic visceral acid sphingomyelinase deficiency(Niemann-Pick disease type B) in 16 Polish patients: Long-term follow-up[J]. Orphanet J Rare Dis, 2019, 14( 1): 55. DOI: 10.1186/s13023-019-1029-1.
[10]	MCGOVERN MM, POHL-WORGALL T, DECKELBAUM RJ, et al. Lipid abnormalities in children with types A and B Niemann Pick disease[J]. J Pediatr, 2004, 145( 1): 77- 81. DOI: 10.1016/j.jpeds.2004.02.048.
[11]	CASSIMAN D, PACKMAN S, BEMBI B, et al. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency(Niemann-Pick disease type B and B variant): Literature review and report of new cases[J]. Mol Genet Metab, 2016, 118( 3): 206- 213. DOI: 10.1016/j.ymgme.2016.05.001.
[12]	LAN MY, KANG TW, LAN SC, et al. Spontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature[J]. J Clin Lipidol, 2022, 16( 4): 434- 437. DOI: 10.1016/j.jacl.2022.06.002.
[13]	MCGOVERN MM, WASSERSTEIN MP, GIUGLIANI R, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B[J]. Pediatrics, 2008, 122( 2): e341- e349. DOI: 10.1542/peds.2007-3016.
[14]	ADIN ME, ONDER H, ALABALıK U. Echogenic splenic lesions in a child with type B Niemann-Pick disease[J]. J Clin Ultrasound, 2013, 41( Suppl 1): 32- 34. DOI: 10.1002/jcu.22009.
[15]	THURBERG BL, WASSERSTEIN MP, SCHIANO T, et al. Liver and skin histopathology in adults with acid sphingomyelinase deficiency(Niemann-Pick disease type B)[J]. Am J Surg Pathol, 2012, 36( 8): 1234- 1246. DOI: 10.1097/PAS.0b013e31825793ff.
[16]	MOLES A, TARRATS N, FERNÁNDEZ-CHECA JC, et al. Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease[J]. J Biol Chem, 2012, 287( 2): 1178- 1188. DOI: 10.1074/jbc.M111.272393.
[17]	WANG RS, QIN ZY, HUANG L, et al. SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency[J]. Hereditas, 2023, 160( 1): 11. DOI: 10.1186/s41065-023-00272-1.
[18]	PATTERSON MC, DI BISCEGLIE AM, HIGGINS JJ, et al. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C[J]. Neurology, 1993, 43( 1): 61- 64. DOI: 10.1212/wnl.43.1_part_1.61.
[19]	WASSERSTEIN MP, DIAZ GA, LACHMANN RH, et al. Olipudase Alfa for treatment of acid sphingomyelinase deficiency(ASMD): Safety and efficacy in adults treated for 30 months[J]. J Inherit Metab Dis, 2018, 41( 5): 829- 838. DOI: 10.1007/s10545-017-0123-6.
[20]	MIRANDA SR, ERLICH S, FRIEDRICH VL Jr, et al. Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease[J]. Gene Ther, 2000, 7( 20): 1768- 1776. DOI: 10.1038/sj.gt.3301300.
[21]	LIU Y, LUO Y, XIA L, et al. The effects of liver transplantation in children with niemann-pick disease type B[J]. Liver Transpl, 2019, 25( 8): 1233- 1240. DOI: 10.1002/lt.25457.
[22]	GASPERINI S, D’ANTIGA L. Liver transplantation for lysosomal storage disorders: A novel option to pick[J]. Liver Transpl, 2019, 25( 8): 1140- 1141. DOI: 10.1002/lt.25578.
[23]	GEBERHIWOT T, WASSERSTEIN M, WANNINAYAKE S, et al. Consensus clinical management guidelines for acid sphingomyelinase deficiency(Niemann-Pick disease types A, B and A/B)[J]. Orphanet J Rare Dis, 2023, 18( 1): 85. DOI: 10.1186/s13023-023-02686-6.

Relative Articles

Supplements(0)

Cited By

Proportional views

Proportional views

通讯作者: 陈斌, bchen63@163.com

1.
沈阳化工大学材料科学与工程学院沈阳 110142

Figures(7)

Get Citation

PDF

XML

Article Metrics

Article views (287) PDF downloads(74)

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

DOI: 10.12449/JCH240221

Abstract

References

Proportional views

Catalog

通讯作者: 陈斌, bchen63@163.com

Article Metrics

Proportional views

Related

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

DOI: 10.12449/JCH240221

Abstract

References

Proportional views

Catalog

通讯作者: 陈斌, bchen63@163.com

Article Metrics

Proportional views

Related

About Journal

Submission Guideline

Journal Online

Hepatobiliary College

Guidelines

Export File

Citation

Format

Content