Thrombotic thrombocytopenic purpura in a newborn

被引:15
作者
Paul T Jubinsky
Richard Moraille
Han-Mou Tsai
机构
[1] Div. Pediatric Hematology/Oncology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10461
[2] Division of Hematology/Oncology, Children's Hospital Medical Center, Cincinnati, OH
[3] Division of Neonatology, Children's Hospital Medical Center, Cincinnati, OH
[4] Division of Hematology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY
基金
美国国家卫生研究院;
关键词
D O I
10.1038/sj.jp.7210853
中图分类号
学科分类号
摘要
The report describes a newborn who presented with hyperbilirubinemia and thrombocytopenia. The patient recovered after treatment with antibiotics, phototherapy, and a platelet transfusion. Analysis of the plasma von Willebrand factor-cleaving metalloprotease, ADAMTS13, revealed low protease activity in the patient and her two siblings, and a mild deficiency in both parents. These results confirmed the clinical suspicion of hereditary thrombotic thrombocytopenic purpura (TTP). Although most cases of thrombocytopenia and hyperbilirubinemia in the newborn period are caused by other causes, genetic deficiency of ADAMTS13 may not be as uncommon as previously believed. Early diagnosis may have important implications for the patients.
引用
收藏
页码:85 / 87
页数:2
相关论文
共 18 条
[11]  
Tsai H.M., Von Willebrand factor, ADAMTS13 and thrombotic thrombocytopenic purpura, J. Mol. Med., 80, pp. 639-647, (2002)
[12]  
Asada Y., Sumiyoshi A., Hayashi T., Suzumiya J., Kaketani K., Immunohistochemistry of vascular lesion in thrombotic thrombocytopenic purpura, with special reference to factor VIII related antigen, Thromb. Res., 38, pp. 467-479, (1985)
[13]  
Tsai H.M., Li A., Rock G., Inhibitors of von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura, Clin. Lab., 47, pp. 387-392, (2001)
[14]  
te Loo D.M., Levtchenko E., Furlan M., Et al., Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency, Pediatr. Nephrol., 14, pp. 762-765, (2000)
[15]  
Allford S.L., Harrison P., Lawrie A.S., Et al., Von Willebrand factor-cleaving protease activity in congenital thrombotic thrombocytopenic purpura, Br. J. Haematol., 111, pp. 1215-1222, (2000)
[16]  
Sasahara Y., Kumaki S., Ohashi Y., Et al., Deficient activity of von Willebrand factor-cleaving protease in patients with Upshaw-Schulman syndrome, Int. J. Hematol., 74, pp. 109-114, (2001)
[17]  
Mannucci P.M., Canciani M.T., Forza I., Et al., Changes in health and disease of the metalloprotease that cleaves von Willebrand factor, Blood, 98, pp. 2730-2735, (2001)
[18]  
Katz J.A., Moake J.L., McPherson P.D., Et al., Relationship between human development and disappearance of unusually large von Willebrand factor multimers from plasma, Blood, 73, pp. 1851-1858, (1989)