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血小板减少症 - 桡骨发育不全(TAR)综合征伴免疫性血小板减少症。

Thrombocytopenia--radial aplasia (TAR) syndrome with associated immune thrombocytopenia.

作者信息

O'Flanagan S J, Cunningham J M, McManus S, Otridge B W, McManus F

机构信息

Department of Orthopaedics, Children's Hospital, Dublin, Republic of Ireland.

出版信息

Postgrad Med J. 1989 Jul;65(765):485-7. doi: 10.1136/pgmj.65.765.485.

DOI:10.1136/pgmj.65.765.485
PMID:2602242
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2429440/
Abstract

We report a 10 year old girl with congenital thrombocytopenia with absent radii (TAR) syndrome. Unusually this patient has shown no abnormal bleeding tendency despite numerous orthopaedic procedures. There is evidence of an associated immune component to the thrombocytopenia which has not been previously documented.

摘要

我们报告了一名患有先天性血小板减少伴桡骨缺如(TAR)综合征的10岁女孩。不同寻常的是,尽管进行了多次骨科手术,但该患者并未表现出异常出血倾向。有证据表明血小板减少存在相关的免疫成分,这在以前尚未有过记录。

相似文献

1
Thrombocytopenia--radial aplasia (TAR) syndrome with associated immune thrombocytopenia.血小板减少症 - 桡骨发育不全(TAR)综合征伴免疫性血小板减少症。
Postgrad Med J. 1989 Jul;65(765):485-7. doi: 10.1136/pgmj.65.765.485.
2
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).先天性血小板减少伴桡骨缺失(TAR)患者血小板生成素受体基因(c-mpl)的突变筛查
Br J Haematol. 1998 Nov;103(2):311-4. doi: 10.1046/j.1365-2141.1998.00991.x.
3
Thrombocytopenia with absent radii (the TAR syndrome).
Am J Med Sci. 1980 Sep-Oct;280(2):95-9. doi: 10.1097/00000441-198009000-00005.
4
[Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].[血小板减少伴桡骨缺如综合征(TAR)。病例报告及文献讨论]
Tijdschr Kindergeneeskd. 1989 Aug;57(4):141-6.
5
Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome.一名患有血小板减少症/桡骨缺失(Tar)综合征的患者出现急性淋巴细胞白血病。
Am J Pediatr Hematol Oncol. 1993 Aug;15(3):335-7.
6
Prenatal diagnosis of thrombocytopenia-absent radius syndrome.血小板减少-桡骨缺如综合征的产前诊断
Fetal Diagn Ther. 1996 May-Jun;11(3):224-30. doi: 10.1159/000264307.
7
Tar syndrome with unilateral absent radius and associated esophageal atresia: a variant?伴有单侧桡骨缺如及相关食管闭锁的塔尔综合征:一种变异型?
Indian J Pediatr. 1999 May-Jun;66(3):460-3. doi: 10.1007/BF02845541.
8
Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii.桡骨缺失血小板减少综合征中c-Mpl信号通路缺陷
Stem Cells. 1998;16 Suppl 2:177-84. doi: 10.1002/stem.5530160720.
9
Thrombocytopenia with absent radii. A review of 100 cases.血小板减少伴桡骨缺失。100例病例回顾。
Am J Pediatr Hematol Oncol. 1988 Spring;10(1):51-64. doi: 10.1097/00043426-198821000-00010.
10
Storage pool disease of platelets in an infant with thrombocytopenic absent radii (TAR) syndrome simulating Fanconi's anaemia.患有血小板减少伴桡骨缺失(TAR)综合征的婴儿出现类似范科尼贫血的血小板贮存池病。
Haemostasis. 1981;10(3):121-33. doi: 10.1159/000214396.

本文引用的文献

1
Storage pool disease of platelets in an infant with thrombocytopenic absent radii (TAR) syndrome simulating Fanconi's anaemia.患有血小板减少伴桡骨缺失(TAR)综合征的婴儿出现类似范科尼贫血的血小板贮存池病。
Haemostasis. 1981;10(3):121-33. doi: 10.1159/000214396.
2
A monoclonal anti-platelet antibody with decreased reactivity for autoimmune thrombocytopenic platelets.一种对自身免疫性血小板减少症血小板反应性降低的单克隆抗血小板抗体。
Proc Natl Acad Sci U S A. 1983 Nov;80(22):6992-5. doi: 10.1073/pnas.80.22.6992.
3
Wiskott-Aldrich syndrome: qualitative platelet defects and short platelet survival.威斯科特-奥尔德里奇综合征:血小板质量缺陷与血小板存活期缩短。
Br J Haematol. 1969 Oct;17(4):373-88. doi: 10.1111/j.1365-2141.1969.tb01383.x.
4
Platelet adenine nucleotide "storage pool deficiency" in thrombocytopenic absent radii syndrome.血小板减少伴桡骨缺失综合征中的血小板腺嘌呤核苷酸“储存池缺乏”
JAMA. 1972 Aug 28;221(9):1053-4.
5
Thrombocytopenia with absent radius (TAR).桡骨缺如伴血小板减少症(TAR)。
Medicine (Baltimore). 1969 Nov;48(6):411-39. doi: 10.1097/00005792-196948060-00001.
6
The platelet defect associated with albumism.
Br J Haematol. 1972 Dec;23(6):679-92. doi: 10.1111/j.1365-2141.1972.tb03483.x.
7
Thrombocytopenia and absent radius (TAR) syndrome.血小板减少伴桡骨缺如(TAR)综合征
J Med Genet. 1987 Feb;24(2):79-83. doi: 10.1136/jmg.24.2.79.
8
The storage pool deficiency in platelets from humans with the Chédiak-Higashi syndrome: study of six patients.
Br J Haematol. 1985 Mar;59(3):471-83. doi: 10.1111/j.1365-2141.1985.tb07334.x.
9
Autoimmune thrombocytopenic purpura.
Semin Hematol. 1985 Oct;22(4):260-88.
10
The occurrence of circulating immune complexes and viral antigens in idiopathic thrombocytopenic purpura.特发性血小板减少性紫癜中循环免疫复合物和病毒抗原的出现。
Clin Exp Immunol. 1977 Apr;28(1):49-55.