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与非免疫性胎儿水肿相关的尼曼-匹克病

Niemann-Pick disease associated with nonimmune hydrops fetalis.

作者信息

Meizner I, Levy A, Carmi R, Robinsin C

机构信息

Ultrasound Unit, Soroka Medical Center, Beer-Sheva, Israel.

出版信息

Am J Obstet Gynecol. 1990 Jul;163(1 Pt 1):128-9. doi: 10.1016/s0002-9378(11)90685-1.

DOI:10.1016/s0002-9378(11)90685-1
PMID:2375336
Abstract

The number of metabolic disorders associated with nonimmune hydrops fetalis is very small and includes only Gaucher disease, GM1 gangliosidosis type 1, Hurler syndrome, and mucolipidosis type I. We report another association of a nonimmune hydrops fetalis with Niemann-Pick disease as evident by electron microscopy, and wish to add this disorder to the list of conditions associated with nonimmune hydrops fetalis.

摘要

与非免疫性胎儿水肿相关的代谢紊乱疾病数量非常少,仅包括戈谢病、1型GM1神经节苷脂贮积症、Hurler综合征和I型黏脂贮积症。我们报告了非免疫性胎儿水肿与尼曼-皮克病的另一种关联,这在电子显微镜下很明显,并希望将这种疾病添加到与非免疫性胎儿水肿相关的疾病列表中。

相似文献

1
Niemann-Pick disease associated with nonimmune hydrops fetalis.与非免疫性胎儿水肿相关的尼曼-匹克病
Am J Obstet Gynecol. 1990 Jul;163(1 Pt 1):128-9. doi: 10.1016/s0002-9378(11)90685-1.
2
Nonimmune hydrops in fetal Niemann-Pick disease.
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3
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.非免疫性胎儿水肿中溶酶体贮积病的研究。
Prenat Diagn. 2004 Aug;24(8):653-7. doi: 10.1002/pd.967.
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Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.非免疫性胎儿水肿的代谢病因:下一代测序panel 作为一线检查方法。
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Report of fourteen cases of nonimmune hydrops fetalis in association with hemorrhagic endovasculitis of the placenta.
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Nonimmune hydrops fetalis associated with genetic abnormalities.与遗传异常相关的非免疫性胎儿水肿。
Obstet Gynecol. 1990 Mar;75(3 Pt 2):568-72.
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Hydrops fetalis: lysosomal storage disorders in extremis.胎儿水肿:极端情况下的溶酶体贮积症。
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A case of recurrent infantile polycystic kidney associated with hydrops fetalis.一例复发性婴儿型多囊肾合并胎儿水肿。
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GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report.表现为非免疫性胎儿水肿的GM1神经节苷脂贮积症:一例报告
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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.

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Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study.患有代谢性先天性疾病子女的妇女的妊娠结局特征:一项基于人群的研究。
Front Genet. 2022 Nov 9;13:1030361. doi: 10.3389/fgene.2022.1030361. eCollection 2022.
2
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.基于氧化固醇/壳三糖酶的尼曼-匹克 C 型选择性筛查在婴儿胆汁淤积综合征患者中的应用。
BMC Med Genet. 2019 Jul 11;20(1):123. doi: 10.1186/s12881-019-0857-0.
3
First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.
首例通过颈部水囊瘤诊断的C2型尼曼-匹克病产前诊断:病例报告及文献复习
Front Endocrinol (Lausanne). 2018 Jun 6;9:292. doi: 10.3389/fendo.2018.00292. eCollection 2018.
4
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.非免疫性胎儿水肿(NIHF)中的溶酶体贮积症:比想象中更常见?4 例伴有短暂 NIHF 的病例报告及文献复习。
Orphanet J Rare Dis. 2012 Nov 8;7:86. doi: 10.1186/1750-1172-7-86.
5
Lysosomal storage disorders in the newborn.新生儿溶酶体贮积症
Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635.
6
Prenatal diagnosis of lysosomal storage diseases.溶酶体贮积症的产前诊断
Brain Pathol. 1998 Jan;8(1):133-49. doi: 10.1111/j.1750-3639.1998.tb00141.x.
7
Screening for lysosomal disorders.溶酶体疾病的筛查。
Eur J Pediatr. 1994;153(7 Suppl 1):S38-43. doi: 10.1007/BF02138776.