Journal of Internal Medicine Concepts & Practice >

2022 , Vol. 17 >Issue 06: 471 - 474

DOI: https://doi.org/10.16138/j.1673-6087.2022.06.010

Review article

Progress of research on Niemann-Pick disease type A and type B

Expand

Received date: 2021-09-13

  Online published: 2023-02-27

Fold

Cite this article

QIAN Lan, WU Tao . Progress of research on Niemann-Pick disease type A and type B[J]. Journal of Internal Medicine Concepts & Practice, 2022 , 17(06) : 471 -474 . DOI: 10.16138/j.1673-6087.2022.06.010

References

[1] Niemann-Pick disease: own observations and new therapeutic options[J]. Orv Hetil, 2021, 162(2): 74-80.
[2] Wheeler S, Sillence DJ. Niemann-Pick type C disease: cellular pathology and pharmacotherapy[J]. J Neurochem, 2020, 153(6): 674-692.
[3] McGovern MM, Wasserstein MP, Bembi B, et al. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation[J]. Orphanet J Rare Dis, 2021, 16(1): 212.
[4] Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease[J]. Mol Genet Metab, 2017, 120(1-2): 27-33.
[5] Zampieri S, Filocamo M, Pianta A, et al. SMPD1 mutation update: database and comprehensive analysis of published and novel variants[J]. Hum Mutat, 2016, 37(2): 139-147.
[6] Alcalay RN, Mallett V, Vanderperre B, et al. SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson’s disease[J]. Mov Disord, 2019, 34(4): 526-535.
[7] Ordieres-Ortega L, Galeano-Valle F, Mallén-Pérez M, et al. Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management[J]. BMC Med Genet, 2020, 21(1): 1-6.
[8] Pinto C, Sousa D, Ghilas V, et al. Acid sphingomyelinase deficiency[J]. Int J Mol Sci, 2021, 22(23): 12870.
[9] Thurberg BL. Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick disease type A)[J]. Mol Genet Metab Rep, 2020, 24: 100626.
[10] 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.
[11] Dhami R, He X, Gordon RE, et al. Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase[J]. Lab Invest, 2001, 81(7): 987-999.
[12] Cerón-Rodríguez M, Vázquez-Martínez ER, García-Delgado C, et al. Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population[J]. Ann Hepatol, 2019, 18(4): 613-619.
[13] Cox GF, Clarke LA, Giugliani R, et al. Burden of illness in acid sphingomyelinase deficiency[J]. JIMD Rep, 2018, 41: 119-129.
[14] Al-Eitan L, Alqa’qa’ K, Amayreh W, et al. Novel mutations in the SMPD1 gene in Jordanian children with acid sphingomyelinase deficiency (Niemann-Pick types A and B)[J]. Gene, 2020, 747: 144683.
[15] McGovern MM, Dionisi-Vici C, Giugliani R, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency[J]. Genet Med, 2017, 19(9): 967-974.
[16] 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)[J]. Mol Genet Metab, 2016, 118(3): 206-213.
[17] McGovern MM, Avetisyan R, Sanson BJ, et al. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency(ASMD)[J]. Orphanet J Rare Dis, 2017, 12(1):41.
[18] Wasserstein M, Godbold J, McGovern MM. Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B[J]. J Inherit Metab Dis, 2013, 36(1): 123-127.
[19] 徐威, 翟允鹏, 常宏, 等. 脾切除治疗成人型尼曼-匹克病1例[J]. 中国现代普通外科进展, 2014, 17(1): 81-82.
[20] Lipiński P, Kuchar L, Zakharova EY, et al. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients[J]. Orphanet J Rare Dis, 2019, 14(1):55.
[21] Bender CV, da Silveira HLD, Dos Santos NS, et al. Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency[J]. Am J Med Genet A, 2020, 182(12): 2891-2901.
[22] Jones SA, McGovern M, Lidove O, et al. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy[J]. Mol Genet Metab, 2020, 131(1-2): 116-123.
[23] 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.
[24] 陈姣, 刘小梅, 肖娟, 等. 异基因造血干细胞移植治疗尼曼匹克病B型1例[J]. 中国小儿血液与肿瘤杂志, 2021, 26(1): 48-50.
[25] Quarello P, Spada M, Porta F, et al. Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity[J]. Pediatr Blood Cancer, 2018, 65(2): 10.
[26] Mercati O, Pichard S, Ouachée M, et al. Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type[J]. Eur J Paediatr Neurol, 2017, 21(6): 907-911.
[27] McGovern MM, Wasserstein MP, Kirmse B, et al. Novel first-dose adverse drug reactions during a phase Ⅰ trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency)[J]. Genet Med, 2016, 18(1): 34-40.
[28] Wasserstein MP, Jones SA, Soran H, et al. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency[J]. Mol Genet Metab, 2015, 116 (1-2): 88-97.
[29] Wasserstein MP, Diaz GA, Lachmann RH, et al. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD)[J]. J Inherit Metab Dis, 2018, 41(5): 829-838.
[30] Thurberg BL, Diaz GA, Lachmann RH, et al. Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency(ASMD)[J]. Mol Genet Metab, 2020, 131(1-2): 245-252.
[31] Garnacho C, Dhami R, Solomon M, et al. Enhanced delivery and effects of acid sphingomyelinase by ICAM-1-targeted nanocarriers in type B Niemann-Pick disease mice[J]. Mol Ther, 2017, 25(7): 1686-1696.
[32] Hughes MP, Smith DA, Morris L, et al. AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease[J]. Hum Mol Genet, 2018, 27(17): 3079-3098.
[33] Samaranch L, Pérez-Ca?amás A, Soto-Huelin B, et al. Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A[J]. Sci Transl Med, 2019, 11(506): eaat3738.
[34] Zou S, Kumar U. Cannabinoid receptors and the endocannabinoid system[J]. Int J Mol Sci, 2018, 19(3): 833.
[35] Bartoll A, Toledano-Zaragoza A, Casas J, et al. Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling[J]. EMBO Mol Med, 2020, 12(11): e11776.
Options
Outlines

/

〈 〉