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一名儿童患非典型溶血性尿毒症综合征伴周围坏疽和高同型半胱氨酸血症。

Atypical hemolytic uremic syndrome with peripheral gangrene and homocysteinemia in a child.

作者信息

Al-Ahmad Molham, Kharita Lubna, Wannous Hala

机构信息

Faculty of Medicine, Damascus University, Damascus, Syria.

Department of Pediatric Nephrology, Damascus University, Children's Hospital, Damascus, Syria.

出版信息

Oxf Med Case Reports. 2020 Jul 24;2020(7):omaa048. doi: 10.1093/omcr/omaa048. eCollection 2020 Jul.

DOI:10.1093/omcr/omaa048
PMID:32728451
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7376982/
Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare, progressive, life-threating disease that frequently has a genetic component; it is usually caused by familial, sporadic or idiopathic reasons. We report a case of aHUS in a 21-month-old girl with coexisting of methylenetetrahydrofolate reductase mutations, homocysteinemia and thalassemia minor complicated by peripheral gangrene as extrarenal manifestation.

摘要

非典型溶血性尿毒症综合征（aHUS）是一种罕见的、进行性的、危及生命的疾病，通常具有遗传因素；它通常由家族性、散发性或特发性原因引起。我们报告一例21个月大女童患aHUS的病例，该患儿同时存在亚甲基四氢叶酸还原酶突变、高同型半胱氨酸血症和轻度地中海贫血，并伴有外周坏疽这一肾外表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/8dc197486ff2/omaa048f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/859706e98eec/omaa048f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/5028c0575a89/omaa048f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/6e91e2dd6021/omaa048f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/8dc197486ff2/omaa048f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/859706e98eec/omaa048f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/5028c0575a89/omaa048f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/6e91e2dd6021/omaa048f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3852/7376982/8dc197486ff2/omaa048f4.jpg

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本文引用的文献

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Epidemiology of Atypical Hemolytic Uremic Syndrome: A Systematic Literature Review.非典型溶血尿毒综合征的流行病学：一项系统文献综述
Clin Epidemiol. 2020 Mar 12;12:295-305. doi: 10.2147/CLEP.S245642. eCollection 2020.
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Hemolytic Uremic Syndrome.溶血性尿毒症综合征
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Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment.非典型溶血尿毒综合征：病理生理学、诊断及治疗的最新进展
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Peripheral gangrene in children with atypical hemolytic uremic syndrome.儿童非典型溶血尿毒综合征的周围性坏疽。
Pediatrics. 2013 Jan;131(1):e331-5. doi: 10.1542/peds.2012-0903. Epub 2012 Dec 10.
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Pediatrics. 2004 Aug;114(2 Suppl 4th Report):555-76.
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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.一种血管疾病的潜在遗传风险因素：亚甲基四氢叶酸还原酶的常见突变
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