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本文引用的文献

1
Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency.在一名患有先天性蛋白C缺乏症的新生儿中，使用胰岛素泵持续皮下输注蛋白C浓缩物。
Blood Coagul Fibrinolysis. 2014 Jul;25(5):522-6. doi: 10.1097/MBC.0000000000000079.
2
A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans.
Blood Coagul Fibrinolysis. 2013 Dec;24(8):890-2. doi: 10.1097/MBC.0b013e3283651398.
3
Adult-onset arterial thrombosis in a pedigree of homozygous and heterozygous protein C deficiency.纯合子和杂合子蛋白C缺乏家族中的成人发病动脉血栓形成。
Thromb Res. 2013 Jan;131(1):102-4. doi: 10.1016/j.thromres.2012.10.016. Epub 2012 Nov 20.
4
Protein C deficiency: a case review.蛋白C缺乏症：病例回顾
Neonatal Netw. 2011 May-Jun;30(3):153-9. doi: 10.1891/0730-0832.30.3.153.
5
Peters anomaly: review of the literature.彼得斯异常：文献回顾。
Cornea. 2011 Aug;30(8):939-44. doi: 10.1097/ICO.0b013e31820156a9.
6
Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis.遗传性蛋白 C 缺乏症是由蛋白 C 基因中的 Ala267Thr 突变引起的，与有症状和无症状的静脉血栓形成有关。
Thromb Res. 2010 Mar;125(3):230-4. doi: 10.1016/j.thromres.2009.05.013. Epub 2009 Jun 17.
7
Protein C deficiency.蛋白C缺乏症。
Haemophilia. 2008 Nov;14(6):1214-21. doi: 10.1111/j.1365-2516.2008.01838.x.
8
A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.一名患有纯合子蛋白C缺乏症且存在纯合子Arg178Trp突变的新生儿。
J Pediatr Hematol Oncol. 2008 Aug;30(8):608-11. doi: 10.1097/MPH.0b013e318179a15d.
9
Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene.由于蛋白C基因第6外显子的一个新的纯合突变导致严重I型蛋白C缺乏症并伴有新生儿暴发性紫癜。
J Thromb Haemost. 2006 May;4(5):1152-3. doi: 10.1111/j.1538-7836.2006.01894.x.
10
Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation.纯合子蛋白C缺乏症伴暴发性紫癜：1例新病例报告及一种新突变的描述。
Blood Coagul Fibrinolysis. 2003 Apr;14(3):303-6. doi: 10.1097/01.mbc.0000061287.28953.2c.

一系列儿童中纯合子蛋白C缺乏症的延迟表现：关于两种分子缺陷的报告

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.

作者信息

Baothman Abdullah A, AlSobhi Enaam, Khayat Hassan A, Alsulami Raed E, Alkahtani Abdulaziz S, Al-Thobyani Abdelraheem A, Marzouk Yousef I, Abdelaal Mohammad A

机构信息

Pediatric Hematology Unit King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia; College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia.

College of Medicine King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia; Hematology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia; Pathology Department King Abdulaziz Medical City National Guard Health Affairs-Western Region Jeddah Saudi Arabia.

出版信息

Clin Case Rep. 2017 Feb 6;5(3):315-320. doi: 10.1002/ccr3.699. eCollection 2017 Mar.

DOI:10.1002/ccr3.699
PMID:28265398
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5331256/
Abstract

Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Premarital counseling should be offered when family history suggests.

摘要

即使在新生儿期之后，因暴发性紫癜进行的儿科急诊就诊也应引起对遗传性纯合蛋白C缺乏症的怀疑。即使没有这一典型表现，也不能排除诊断，因为曾观察到有以孤立性眼内出血为特征的非典型表现。当有家族史提示时，应提供婚前咨询。