macrothrombocytopenia

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1. 先天性および後天性血小板機能障害 congenital and acquired disorders of platelet function
2. 小児における血小板減少症の原因 causes of thrombocytopenia in children
3. 原因不明の血小板減少症を有する成人に対するアプローチ approach to the adult with unexplained thrombocytopenia
4. 末梢血塗抹標本の評価 evaluation of the peripheral blood smear
5. 嚢胞性線維症：肝胆道系疾患 cystic fibrosis hepatobiliary disease

A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.

Kaya Z1, Niu DM, Yorulmaz A, Tekin A, Gürsel T.
Pediatric blood & cancer.Pediatr Blood Cancer.2014 Aug;61(8):1457-9. doi: 10.1002/pbc.24934. Epub 2014 Jan 16.
Phytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in ABCG5 and ABCG8 genes. A 9-year-old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of ABCG5 and ABCG8 genes revealed a novel homozygous I
PMID 24623560

Escolà-Gil JC1, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F.
Current atherosclerosis reports.Curr Atheroscler Rep.2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2.
Sitosterolemia is a rare autosomal recessively inherited disease caused by mutations affecting ABCG5 or ABCG8, which are located on human chromosome band 2p21. Around 100 cases have been reported in the literature. Sitosterolemic patients typically exhibit a 30-fold to 100-fold increase in plasma co
PMID 24821603

Nurden AT.
Seminars in thrombosis and hemostasis.Semin Thromb Hemost.2014 Jun 26. [Epub ahead of print]
The search for the components of the platelet surface that mediate platelet adhesion and platelet aggregation began for earnest in the late 1960s when electron microscopy demonstrated the presence of a carbohydrate-rich, negatively charged outer coat that was called the "glycocalyx." Progressively,
PMID 24967889