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三名兄弟姐妹患血栓性血小板减少性紫癜和溶血性尿毒症综合征。

Thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome in three siblings.

作者信息

Elias M, Horowitz J, Tal I, Kohn D, Flatau E

机构信息

Department of Internal Medicine B, Central Emek Hospital, Afula, Israel.

出版信息

Arch Dis Child. 1988 Jun;63(6):644-6. doi: 10.1136/adc.63.6.644.

DOI:10.1136/adc.63.6.644
PMID:3389894
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1778895/
Abstract

Two brothers and one sister had three variants of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome (the 'TTP-HUS' complex). The sister had a chronic fatal variant of thrombotic thrombocytopenic purpura with severe neurological manifestation. One brother had a chronic relapsing disease but the kidneys were not affected, and the other brother had haemolytic uraemic syndrome. This occurrence in one family supports the hypothesis that haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura are actually two variants of the same disease.

摘要

两兄弟和一个姐妹患有血栓性血小板减少性紫癜和溶血性尿毒综合征(“TTP-HUS”综合征)的三种变体。该姐妹患有血栓性血小板减少性紫癜的慢性致命变体,并伴有严重的神经症状。一个兄弟患有慢性复发性疾病,但肾脏未受影响,另一个兄弟患有溶血性尿毒综合征。一个家族中出现这种情况支持了溶血性尿毒综合征和血栓性血小板减少性紫癜实际上是同一种疾病的两种变体这一假说。

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本文引用的文献

1
Hereditary thrombotic thrombocytopenic purpura: microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurring in consecutive generations.遗传性血栓性血小板减少性紫癜:微血管病性溶血性贫血、血小板减少和肾功能不全在连续几代人中出现。
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Thrombotic thrombocytopenic purpura and hemolytic-uremic syndrome in HLA-identical siblings.
Ann Intern Med. 1980 Aug;93(2):283-4. doi: 10.7326/0003-4819-93-2-284.
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Thrombotic thrombocytopenic purpura in siblings.兄弟姐妹中的血栓性血小板减少性紫癜。
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Thrombotic thrombocytopenic purpura in four siblings.四名兄弟姐妹患血栓性血小板减少性紫癜。
Am J Med. 1975 May;58(5):724-34. doi: 10.1016/0002-9343(75)90510-0.
7
Hemolytic uremic syndrome in families.家族性溶血性尿毒症综合征
N Engl J Med. 1975 May 22;292(21):1090-3. doi: 10.1056/NEJM197505222922102.
8
Thrombotic thrombocytopenic purpura. Occurrence two years apart during late pregnancy in two sisters.血栓性血小板减少性紫癜。两姐妹在妊娠晚期相隔两年发病。
JAMA. 1976 May 10;235(19):2126-7. doi: 10.1001/jama.235.19.2126.