A型及B型尼曼-皮克病研究新进展

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R742.89

钱岚, 吴涛. A型及B型尼曼-皮克病研究新进展[J]. 内科理论与实践, 2022, 17(06): 471-474.

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.

参考文献35

[1]	Niemann-Pick disease: own observations and new therapeutic options[J]. Orv Hetil, 2021, 162(2): 74-80. doi:10.1556/650.2021.31950 URL
[2]	Wheeler S, Sillence DJ. Niemann-Pick type C disease: cellular pathology and pharmacotherapy[J]. J Neurochem, 2020, 153(6): 674-692. doi:10.1111/jnc.14895pmid:31608980
[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. doi:10.1186/s13023-021-01842-0pmid:33971920
[4]	Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease[J]. Mol Genet Metab, 2017, 120(1-2): 27-33. doi:S1096-7192(16)30317-1pmid:28164782
[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. doi:10.1002/humu.22923pmid:26499107
[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. doi:10.1002/mds.27642 URL
[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. doi:10.1186/s12881-019-0942-4 URL
[8]	Pinto C, Sousa D, Ghilas V, et al. Acid sphingomyelinase deficiency[J]. Int J Mol Sci, 2021, 22(23): 12870. doi:10.3390/ijms222312870 URL
[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. doi:10.1074/jbc.M111.272393pmid:22102288
[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. pmid:11454988
[12]	Cerón-Rodríguez M, Vázquez-Martínez ER, García-Delgado C, et al. Niemann-Pick disease A or B in four pediatric patients andSMPD1mutation carrier frequency in the Mexican population[J]. Ann Hepatol, 2019, 18(4): 613-619. doi:S1665-2681(19)30056-0pmid:31122880
[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 theSMPD1gene in Jordanian children with acid sphingomyelinase deficiency (Niemann-Pick types A and B)[J]. Gene, 2020, 747: 144683. doi:10.1016/j.gene.2020.144683 URL
[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. doi:10.1038/gim.2017.7pmid:28406489
[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. doi:10.1016/j.ymgme.2016.05.001pmid:27198631
[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. doi:10.1186/s13023-017-0572-x URL
[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. doi:10.1007/s10545-012-9503-0pmid:22718274
[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. doi:10.1186/s13023-019-1029-1pmid:30795770
[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. doi:10.1002/ajmg.a.61871 URL
[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. doi:10.1016/j.ymgme.2020.06.008pmid:32616389
[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. doi:10.1002/lt.25457 URL
[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. doi:10.1016/j.ejpn.2017.07.015 URL
[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. doi:10.1038/gim.2015.24 URL
[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. doi:10.1016/j.ymgme.2015.05.013pmid:26049896
[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. doi:10.1007/s10545-017-0123-6pmid:29305734
[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. doi:10.1016/j.ymgme.2020.06.010pmid:32620536
[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. doi:S1525-0016(17)30232-0pmid:28606376
[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. doi:10.1093/hmg/ddy212pmid:29878115
[33]	Samaranch L, Pérez-Cañamás 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. doi:10.1126/scitranslmed.aat3738 URL
[34]	Zou S, Kumar U. Cannabinoid receptors and the endocannabinoid system[J]. Int J Mol Sci, 2018, 19(3): 833. doi:10.3390/ijms19030833 URL
[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.

A型及B型尼曼-皮克病研究新进展

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

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