PDF(Pubmed)
Abstract：
OBJECTIVE: To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor.
METHODS: Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay. In addition, samples from 149 patients with several inflammatory and noninflammatory disorders and 50 healthy participants served as controls.
RESULTS: Thirteen patients with ROHHAD syndrome were identified. Of these, we had paired serum/CSF samples from 6 patients and only serum from the other 7. Five of 6 patients (83.3%) with paired serum/CSF (4 children, 1 adult) had ZSCAN-abs only in CSF and 1 had antibodies in serum and CSF. ZSCAN1-abs were not detected in the remaining 7 patients with ROHHAD with only serum available or in any of the 199 control samples.
CONCLUSIONS: Patients with ROHHAD syndrome should be investigated for the presence of ZSCAN1-abs in CSF. The antibodies do not necessarily predict the presence of a tumor. The detection of ZSCAN1-abs in an adult patient suggests that this condition also occurs beyond the pediatric age.
METHODS: Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay. In addition, samples from 149 patients with several inflammatory and noninflammatory disorders and 50 healthy participants served as controls.
RESULTS: Thirteen patients with ROHHAD syndrome were identified. Of these, we had paired serum/CSF samples from 6 patients and only serum from the other 7. Five of 6 patients (83.3%) with paired serum/CSF (4 children, 1 adult) had ZSCAN-abs only in CSF and 1 had antibodies in serum and CSF. ZSCAN1-abs were not detected in the remaining 7 patients with ROHHAD with only serum available or in any of the 199 control samples.
CONCLUSIONS: Patients with ROHHAD syndrome should be investigated for the presence of ZSCAN1-abs in CSF. The antibodies do not necessarily predict the presence of a tumor. The detection of ZSCAN1-abs in an adult patient suggests that this condition also occurs beyond the pediatric age.
摘要：
目的：报道锌指和含SCAN结构域1抗体（ZSCAN1-abs）与快速发作性肥胖的关系，下丘脑功能障碍,通气不足,无肿瘤患者的自主神经失调（ROHHAD）综合征。
方法：从我们的数据库中选择症状与ROHHAD综合征相符但没有相关肿瘤的患者。通过内部基于细胞的测定检查血清和CSF样品中ZSCAN1-abs的存在。此外,来自149名患有多种炎症性和非炎症性疾病的患者和50名健康参与者的样本作为对照.
结果：确定了13例ROHHAD综合征患者。其中,我们对6例患者的血清/CSF样本进行了配对，其他7例仅有血清。6例患者中有5例（83.3％）具有配对血清/CSF（4例儿童，1名成人）仅在CSF中具有ZSCAN-abs，而1名在血清和CSF中具有抗体。在其余7例仅有血清可用的ROHHAD患者或任何199个对照样品中均未检测到ZSCAN1-abs。
结论：应研究ROHHAD综合征患者的CSF中是否存在ZSCAN1-abs。抗体不一定预测肿瘤的存在。在成年患者中检测到ZSCAN1-abs表明这种情况也发生在儿科年龄以上。
方法：从我们的数据库中选择症状与ROHHAD综合征相符但没有相关肿瘤的患者。通过内部基于细胞的测定检查血清和CSF样品中ZSCAN1-abs的存在。此外,来自149名患有多种炎症性和非炎症性疾病的患者和50名健康参与者的样本作为对照.
结果：确定了13例ROHHAD综合征患者。其中,我们对6例患者的血清/CSF样本进行了配对，其他7例仅有血清。6例患者中有5例（83.3％）具有配对血清/CSF（4例儿童，1名成人）仅在CSF中具有ZSCAN-abs，而1名在血清和CSF中具有抗体。在其余7例仅有血清可用的ROHHAD患者或任何199个对照样品中均未检测到ZSCAN1-abs。
结论：应研究ROHHAD综合征患者的CSF中是否存在ZSCAN1-abs。抗体不一定预测肿瘤的存在。在成年患者中检测到ZSCAN1-abs表明这种情况也发生在儿科年龄以上。
