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1
Fetal ascites: an unusual presentation of Niemann-Pick disease type C.胎儿腹水：尼曼-匹克病C型的一种罕见表现。
Arch Dis Child. 1989 Oct;64(10 Spec No):1391-3. doi: 10.1136/adc.64.10_spec_no.1391.
2
Fetal ascites: an unusual presentation of Niemann-Pick disease type C.胎儿腹水：尼曼-匹克病C型的一种罕见表现。
Arch Dis Child. 1990 Mar;65(3):335-6. doi: 10.1136/adc.65.3.335-e.
3
[A case report of recurrent nonimmune fetal ascites due to lysosomal storage disease].[一例因溶酶体贮积病导致复发性非免疫性胎儿腹水的病例报告]
Nihon Sanka Fujinka Gakkai Zasshi. 1990 Dec;42(12):1713-6.
4
The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease.骨髓穿刺术在婴儿期肝病尼曼-匹克病C型诊断中的应用价值。
Arch Dis Child. 2006 Oct;91(10):841-4. doi: 10.1136/adc.2005.088013. Epub 2006 May 31.
5
An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.铜代谢紊乱的一种不寻常表现以及与尼曼-匹克C型病的可能联系。
J Child Neurol. 2011 Apr;26(4):518-21. doi: 10.1177/0883073810383983. Epub 2011 Jan 27.
6
Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease.一名成年尼曼-匹克病患者的肝硬化和门静脉高压症
Gastroenterology. 1991 Feb;100(2):567-9. doi: 10.1016/0016-5085(91)90233-b.
7
[A fatal respiratory form of type C Niemann-Pick disease].[C型尼曼-匹克病的一种致命呼吸形式]
Arch Fr Pediatr. 1990 May;47(5):373-5.
8
[Neonatal ascites, first symptom of a case of Niemann-Pick disease].[新生儿腹水，尼曼-匹克病一例的首发症状]
Arch Fr Pediatr. 1959;16:1352-8.
9
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.尼曼-匹克病的肺部受累：最新综述
Lung. 2016 Aug;194(4):511-8. doi: 10.1007/s00408-016-9893-0. Epub 2016 May 10.
10
[Early cholestasis in Niemann-Pick disease. Apropos of a type C case].[尼曼-匹克病的早期胆汁淤积。关于1例C型病例]
Pediatrie. 1979 Jun;34(4):351-7.

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Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.尼曼-匹克病 C1 型合并肝细胞癌 1 例
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2
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.早婴儿型尼曼-匹克病 C 型的临床和分子特征。
Int J Mol Sci. 2020 Jul 17;21(14):5059. doi: 10.3390/ijms21145059.
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NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.小鼠NPC1缺乏与胎儿生长受限、新生儿致死率及肺部病理异常有关。
J Clin Med. 2019 Dec 19;9(1):12. doi: 10.3390/jcm9010012.
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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.
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Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.快速全外显子测序在诊断伴有胎儿水肿和急性肝衰竭的C型尼曼-匹克病中的应用
Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). doi: 10.1101/mcs.a002147. Print 2017 Nov.
6
In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.无家族病史情况下胎儿期尼曼-匹克C型病的诊断
JIMD Rep. 2016;28:105-110. doi: 10.1007/8904_2015_516. Epub 2015 Nov 14.
7
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.
8
The prognostic factors and the outcome of primary isolated fetal ascites.原发性单纯性胎儿腹水的预后因素及结局
Pediatr Surg Int. 2011 Aug;27(8):799-804. doi: 10.1007/s00383-011-2855-y. Epub 2011 Feb 5.
9
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.
10
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.尼曼-皮克C1病：I1061T替代是西欧血统患者中常见的突变等位基因，且与典型的青少年表型相关。
Am J Hum Genet. 1999 Nov;65(5):1321-9. doi: 10.1086/302626.

本文引用的文献

1
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.尼曼-匹克病C型：临床变异性及基于胆固醇酯化缺陷的诊断。对70例患者的一项协作研究。
Clin Genet. 1988 May;33(5):331-48. doi: 10.1111/j.1399-0004.1988.tb03460.x.
2
Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation.原位肝移植后伴有核上性眼肌麻痹的神经内脏贮积病的进展
Pediatrics. 1986 Jan;77(1):104-6.

胎儿腹水：尼曼-匹克病C型的一种罕见表现。

Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

作者信息

Maconochie I K, Chong S, Mieli-Vergani G, Lake B D, Mowat A P

机构信息

Department of Child Health, King's College Hospital, London.

出版信息

Arch Dis Child. 1989 Oct;64(10 Spec No):1391-3. doi: 10.1136/adc.64.10_spec_no.1391.

DOI:10.1136/adc.64.10_spec_no.1391
PMID:2589877
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1590103/
Abstract

Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.

摘要

两名婴儿在出生前被检测出患有严重腹水，这是一种此前未报道过的C型尼曼-匹克病表现。在第二名婴儿的骨髓中未发现诊断性储存细胞。对第二名婴儿进行确诊检查是基于对第一例病例的经验。