Schneppenheim Reinhard, Budde Ulrich, Hassenpflug Wolf, Obser Tobias
Clinic of Paediatric Haematology and Oncology, University Hospital Hamburg-Eppendorf, Germany.
Semin Hematol. 2004 Jan;41(1):83-9. doi: 10.1053/j.seminhematol.2003.10.007.
Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathic disorder with high morbidity and significant mortality. The primary form of TTP is caused by severe deficiency, acquired or hereditary, of the von Willebrand factor cleaving protease (VWF-CP), ADAMTS-13. Because TTP occurs less frequently in children, general pediatricians are not well informed about the spectrum of clinical symptoms and altered laboratory values, increasing the risk of nondiagnosis and possible fatal outcome. If renal involvement is present, the condition can easily be misdiagnosed as hemolytic-uremic syndrome (HUS). We present a case series of children with severe VWF-CP deficiency with emphasis on the clinical heterogeneity responsible for misdiagnosis and inappropriate treatment. The inherited form may involve onset of symptoms ranging from isolated thrombocytopenia to the full clinical picture characteristic of classical TTP. The most common assumed diagnoses of oligosymptomatic forms are immune thrombocytopenia (ITP) and Evans syndrome, respectively. Accordingly, this article is directed towards pediatricians on neonatal and intensive care units, as well as their colleagues specializing in nephrology, hematology, and neurology.
血栓性血小板减少性紫癜（TTP）是一种罕见的微血管病性疾病，发病率高且死亡率显著。TTP的主要形式是由血管性血友病因子裂解蛋白酶（VWF-CP），即ADAMTS-13严重缺乏引起的，这种缺乏可为获得性或遗传性。由于TTP在儿童中发病率较低，普通儿科医生对其临床症状谱和实验室检查值的改变了解不足，这增加了漏诊风险以及可能的致命后果。如果存在肾脏受累，该病很容易被误诊为溶血尿毒综合征（HUS）。我们呈现了一系列严重VWF-CP缺乏的儿童病例，重点关注导致误诊和不恰当治疗的临床异质性。遗传性形式可能表现出从孤立性血小板减少到典型TTP的完整临床特征等不同症状。寡症状形式最常见的假定诊断分别是免疫性血小板减少症（ITP）和伊文氏综合征。因此，本文面向新生儿和重症监护病房的儿科医生，以及他们在肾病学、血液学和神经学领域的同事。
