• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

表现为胎儿水肿的围产期致死性戈谢病。

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

作者信息

BenHamida Emira, Ayadi Imene, Ouertani Ines, Chammem Maroua, Bezzine Ahlem, BenTmime Riadh, Attia Leila, Mrad Ridha, Marrakchi Zahra

机构信息

Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.

Genetic Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.

出版信息

Pan Afr Med J. 2015 Jun 10;21:110. doi: 10.11604/pamj.2015.21.110.7052. eCollection 2015.

DOI:10.11604/pamj.2015.21.110.7052
PMID:26327947
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4546719/
Abstract

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.

摘要

围产期致死性戈谢病非常罕见，被认为是2型戈谢病在新生儿期出现的一种变异型。围产期致死性戈谢病最显著的特征是胎儿非免疫性水肿。该疾病较不常见的体征是肝脾肿大、鱼鳞病和关节挛缩。我们报告了一例在新生儿期诊断为戈谢病（2型）且伴有胎儿水肿的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b70/4546719/a536610a8b38/PAMJ-21-110-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b70/4546719/78eda1b16257/PAMJ-21-110-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b70/4546719/a536610a8b38/PAMJ-21-110-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b70/4546719/78eda1b16257/PAMJ-21-110-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b70/4546719/a536610a8b38/PAMJ-21-110-g002.jpg

相似文献

1
Perinatal-lethal Gaucher disease presenting as hydrops fetalis.表现为胎儿水肿的围产期致死性戈谢病。
Pan Afr Med J. 2015 Jun 10;21:110. doi: 10.11604/pamj.2015.21.110.7052. eCollection 2015.
2
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.围生期致死性戈谢病：神经病变连续谱中的一种独特表型。
Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. doi: 10.1080/15227950500405296.
3
Perinatal-lethal Gaucher disease.围产期致死性戈谢病
Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117.
4
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.一名患有[L444P;E326K]/P182L基因型的2型戈谢病患者出现伴有全身性鱼鳞病的围产期致死表型：E326K突变在该疾病新生儿型和经典型中的作用
Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8. doi: 10.1016/j.bcmd.2005.04.007.
5
Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report.围产期致死型戈谢氏病伴单核苷酸变异和拷贝数变异的复合杂合性表现为非免疫性胎儿水肿和小脑发育不良：病例报告。
Taiwan J Obstet Gynecol. 2024 Sep;63(5):771-776. doi: 10.1016/j.tjog.2024.03.022.
6
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.非免疫性胎儿水肿中的溶酶体贮积病谱：一项回顾性病例对照研究
Prenat Diagn. 2020 May;40(6):738-745. doi: 10.1002/pd.5678. Epub 2020 Mar 20.
7
Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.与复发性胎儿水肿相关的绒毛膜绒毛中戈谢细胞的鉴定。
Placenta. 2000 May;21(4):412-6. doi: 10.1053/plac.1999.0483.
8
A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene.一名因R463H纯合性导致围产期致死性戈谢病且合并MTHFR基因C677T纯合性的新生儿病例。
J Pediatr Endocrinol Metab. 2011;24(5-6):381-3. doi: 10.1515/jpem.2011.001.
9
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.两名患有新突变的戈谢病2型患者中胎儿水肿的罕见病因。
Metab Brain Dis. 2022 Apr;37(4):1283-1287. doi: 10.1007/s11011-022-00942-5. Epub 2022 Mar 7.
10
Perinatal lethal form of Gaucher's disease presenting with hemosiderosis.
Am J Perinatol. 2000;17(4):201-6. doi: 10.1055/s-2000-9419.

引用本文的文献

1
Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.对受早发性溶酶体贮积病影响的胎儿进行酶替代疗法的产前给药。
Am J Med Genet C Semin Med Genet. 2025 Jan 31:e32132. doi: 10.1002/ajmg.c.32132.
2
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.两名患有新突变的戈谢病2型患者中胎儿水肿的罕见病因。
Metab Brain Dis. 2022 Apr;37(4):1283-1287. doi: 10.1007/s11011-022-00942-5. Epub 2022 Mar 7.
3
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

本文引用的文献

1
The clinical management of Type 2 Gaucher disease.2型戈谢病的临床管理
Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14.
2
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.两个戈谢病家系中的胚系或新生突变：对隐性疾病的影响。
Eur J Hum Genet. 2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20.
3
A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene.
不要漏诊戈谢病（基因诊断）：关于严重产前和围产期致死性散发病例诊断线索及管理的叙述性综述
J Clin Med. 2021 Oct 23;10(21):4890. doi: 10.3390/jcm10214890.
4
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.诊断神经病变型戈谢病：戈谢表型分类的新考虑因素和新挑战。
Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9.
5
Perinatal post mortem ultrasound (PMUS): a practical approach.围产期尸检超声检查（PMUS）：一种实用方法。
Insights Imaging. 2019 Mar 18;10(1):35. doi: 10.1186/s13244-019-0723-9.
6
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia.由于基因中RecNcil重组突变导致的围产期致死性戈谢病，表现为胎儿水肿和严重先天性贫血。
Case Rep Pathol. 2018 May 9;2018:2549451. doi: 10.1155/2018/2549451. eCollection 2018.
一名因R463H纯合性导致围产期致死性戈谢病且合并MTHFR基因C677T纯合性的新生儿病例。
J Pediatr Endocrinol Metab. 2011;24(5-6):381-3. doi: 10.1515/jpem.2011.001.
4
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.2 型戈谢病：表型变异和基因型异质性。
Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Epub 2010 Sep 28.
5
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).戈谢病：葡糖脑苷脂酶基因（GBA）中的突变和多态性谱
Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676.
6
Perinatal-lethal Gaucher disease.围产期致死性戈谢病
Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117.
7
Hydrops fetalis: lysosomal storage disorders in extremis.胎儿水肿：极端情况下的溶酶体贮积症。
Adv Pediatr. 1999;46:409-40.
8
Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.
Pediatr Res. 1996 Jan;39(1):134-41. doi: 10.1203/00006450-199601000-00020.