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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。

Hereditary thrombotic thrombocytopenic purpura: microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurring in consecutive generations.

作者信息

Kirchner K A, Smith R M, Gockerman J P, Luke R G

出版信息

Nephron. 1982;30(1):28-30. doi: 10.1159/000182427.

DOI:10.1159/000182427
PMID:7201082
Abstract

Microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurred in a mother an daughter when each was in her third decade. The mother had prominent neurological findings, fever, and expired from renal insufficiency. Her daughter's only major symptom was renal insufficiency. The similarity of the mother's illness to thrombotic thrombocytopenic purpura and of the daughter's to adult hemolytic uremic syndrome suggests that these diseases are variants of a single clinical disorder, while their occurrence in direct descendents strengthens the postulate that in selected instances a genetic predisposition to these disorders may be important.

摘要

一位母亲和她的女儿在三十多岁时均出现微血管病性溶血性贫血、血小板减少和肾功能不全。母亲有明显的神经学表现、发热,最终死于肾功能不全。她女儿唯一的主要症状是肾功能不全。母亲的病症与血栓性血小板减少性紫癜相似,女儿的病症与成人溶血尿毒综合征相似,这表明这些疾病是单一临床病症的变体,而它们在直系后代中的发生强化了一种假设,即在某些情况下,这些病症的遗传易感性可能很重要。

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Thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome in three siblings.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。
Arch Dis Child. 1988 Jun;63(6):644-6. doi: 10.1136/adc.63.6.644.