Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders
Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders
复制标题
DOI：
10.1111/j.1365-2141.2010.08304.x
复制
发表时间：
2010-09-01
影响因子：
6.5
通讯作者：
Bachelot-Loza, Christilla
中科院分区：
文献类型：
--
作者：
Lasne, Dominique;Baujat, Genevieve;Bachelot-Loza, Christilla
Lowe综合征（LS）是一种罕见的X连锁疾病，由眼脑肾基因（OCRL）突变引起，OCRL编码一种具有RhoGAP结构域的磷脂酰肌醇5-磷酸酶。在一项回顾性临床调查中发现出血事件发生率异常。在此，我们报告的结果，探索止血在六个LS患者。所有患者的凝血试验均正常，但PFA-100系统的闭合时间（CT）延长。与RhoA激酶抑制剂孵育的健康供体的血液样品具有延长的CT。这表明血小板中异常的RhoA通路有助于LS中的CT延长和原发性止血障碍。
Lowe syndrome (LS) is a rare X-linked disorder caused by mutations in the oculocerebrorenal gene (OCRL), encoding OCRL, a phosphatidylinositol 5-phosphatase with a RhoGAP domain. An abnormal rate of haemorrhagic events was found in a retrospective clinical survey. Herein, we report the results of exploration of haemostasis in six LS patients. All patients had normal coagulation tests but prolonged closure times (CTs) in the PFA-100 system. Healthy donors' blood samples incubated with a RhoA kinase inhibitor had prolonged CTs. This suggests that an aberrant RhoA pathway in platelets contributes to CT prolongation and primary haemostasis disorders in LS.