Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders

被引：32
作者：
Alessi, Marie-Christine [1 ]
Sie, Pierre [2 ]
Payrastre, Bernard [3 ,4 ]
机构：
[1] Aix Marseille Univ, Inserm, Inrae, C2VN, F-13385 Marseille, France
[2] CHU Toulouse, Lab Hematol, F-31059 Toulouse, France
[3] Inserm, U1048, I2MC, F-31024 Toulouse, France
[4] Univ Paul Sabatier, F-31024 Toulouse, France
来源：
JOURNAL OF CLINICAL MEDICINE | 2020年 / 9卷 / 03期
关键词：
platelets; light transmission aggregometry; inherited platelet disorders; diagnosis; VON-WILLEBRAND DISEASE; THROMBOXANE A(2) RECEPTOR; PROLONGED BLEEDING-TIME; P2Y(12) RECEPTOR; ACQUIRED THROMBASTHENIA; HETEROZYGOUS MUTATION; SIGNAL-TRANSDUCTION; SECRETION DEFECT; GLYCOPROTEIN VI; BLOOD-PLATELETS;
D O I：
10.3390/jcm9030763
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Hereditary defects in platelet function are responsible for sometimes severe mucocutaneous hemorrhages. They are a heterogeneous group of abnormalities whose first-line diagnosis typically involves interpreting the results of in vitro light transmission aggregometry (LTA) traces. Interpretation of LTA is challenging. LTA is usually performed in specialized laboratories with expertise in platelet pathophysiology. This review updates knowledge on LTA, describing the various platelet aggregation profiles typical of hereditary platelet disorders to guide the physician in the diagnosis of functional platelet disorders.
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页数：18
相关论文
共 81 条
[1]   Presence of platelet-associated anti-glycoprotein (GP)VI autoantibodies and restoration of GPVI expression in patients with GPVI deficiency [J].
Akiyama, M. ;
Kashiwagi, H. ;
Todo, K. ;
Moroi, M. ;
Berndt, M. C. ;
Kojima, H. ;
Kanakura, Y. ;
Tomiyama, Y. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 (08) :1373-1383
[2]   Standardization of Light Transmission Aggregometry for Diagnosis of Platelet Disorders: An Inter-Laboratory External Quality Assessment [J].
Althaus, Karina ;
Zieger, Barbara ;
Bakchoul, Tamam ;
Jurk, Kerstin .
THROMBOSIS AND HAEMOSTASIS, 2019, 119 (07) :1154-1161
[3]   Bernard-Soulier Syndrome: An Update [J].
Andrews, Robert K. ;
Berndt, Michael C. .
SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2013, 39 (06) :656-662
[4]  
[Anonymous], J CLIN PATHOL, DOI DOI 10.1136/jcp.41.12.1322
[5]   Platelet glycoprotein VI-related clinical defects [J].
Arthur, Jane F. ;
Dunkley, Scott ;
Andrews, Robert K. .
BRITISH JOURNAL OF HAEMATOLOGY, 2007, 139 (03) :363-372
[6]   Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functions [J].
Bellio, Marie ;
Garcia, Cedric ;
Edouard, Thomas ;
Voisin, Sophie ;
Neel, Benjamin G. ;
Cabou, Cendrine ;
Valet, Philippe ;
Mori, Jun ;
Mazharian, Alexandra ;
Senis, Yotis A. ;
Yart, Armelle ;
Payrastre, Bernard ;
Severin, Sonia .
BLOOD, 2019, 134 (25) :2304-2317
[7]   A mutation of the human EPHB2 gene leads to a major platelet functional defect [J].
Berrou, Eliane ;
Soukaseum, Christelle ;
Favier, Remi ;
Adam, Frederic ;
Elaib, Ziane ;
Kauskot, Alexandre ;
Bordet, Jean-Claude ;
Ballerini, Paola ;
Loyau, Stephane ;
Feng, Miao ;
Dias, Karine ;
Muheidli, Abbas ;
Girault, Stephane ;
Nurden, Alan T. ;
Turro, Ernest ;
Ouwehand, Willem H. ;
Denis, Cecile V. ;
Jandrot-Perrus, Martine ;
Rosa, Jean-Philippe ;
Nurden, Paquita ;
Bryckaert, Marijke .
BLOOD, 2018, 132 (19) :2067-2077
[8]   Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation [J].
Berrou, Eliane ;
Adam, Frederic ;
Lebret, Marilyne ;
Planche, Virginie ;
Fergelot, Patricia ;
Issertial, Odile ;
Coupry, Isabelle ;
Bordet, Jean-Claude ;
Nurden, Paquita ;
Bonneau, Dominique ;
Colin, Estelle ;
Goizet, Cyril ;
Rosa, Jean-Philippe ;
Bryckaert, Marijke .
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2017, 37 (06) :1087-+
[9]   Acquired thrombasthenia due to GPIIbIIIa platelet autoantibodies in a 4-yr-old child [J].
Bloor, AJC ;
Smith, GA ;
Jaswon, M ;
Parker, NE ;
Ouwehand, WH ;
Liesner, R .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2006, 76 (01) :89-90
[10]   AGGREGATION OF BLOOD PLATELETS BY ADENOSINE DIPHOSPHATE AND ITS REVERSAL [J].
BORN, GVR .
NATURE, 1962, 194 (4832) :927-&
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