Cordova Ana, Barrios Nilka J, Ortiz Idith, Rivera Enid, Cadilla Carmen, Santiago-Borrero Pedro J
Department of Pediatric Hematology/Oncology, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Pediatr Blood Cancer. 2005 Jan;44(1):51-4. doi: 10.1002/pbc.20210.
Hermansky-Pudlak syndrome (HPS) is a common genetic disorder in Puerto Rico. In children with HPS, bleeding is the most disturbing and incapacitating problem. Desmopressin (1-deamino-8-D-arginine vasopressin, (DDAVP)) has been recommended in the management of bleeding disorders characterized by platelet dysfunction, such as HPS.
Nineteen pediatric Puerto Rican patients with HPS and prolonged bleeding time (BT) were tested for response to administration of DDAVP.
Baseline BT was abnormal in 18 (95%) of the patients. The BT following DDAVP administration improved in two cases (11%): one from 7.2 to 5.6 min and the other from 8 to 6 min (Tables II and III). BT measurements remained very prolonged (>15 min) in 17 (89%) of the patients. Patients with the HPS 1 gene mutation had a statistically significant correlation with the poor response following DDAVP (P = 0.03).
DDAVP seldom improves the BT of Puerto Rican children with HPS. Response to DDAVP should be determined individually and platelet transfusion should remain the treatment of choice for a major bleeding episode or surgical procedure.
Hermansky-Pudlak综合征（HPS）在波多黎各是一种常见的遗传性疾病。在患有HPS的儿童中，出血是最令人困扰且导致失能的问题。去氨加压素（1-去氨基-8-D-精氨酸加压素，DDAVP）已被推荐用于治疗以血小板功能障碍为特征的出血性疾病，如HPS。
对19名患有HPS且出血时间延长的波多黎各儿科患者进行了DDAVP给药反应测试。
18名（95%）患者的基线出血时间异常。两名患者（11%）在给予DDAVP后的出血时间有所改善：一名从7.2分钟缩短至5.6分钟，另一名从8分钟缩短至6分钟（表II和III）。17名（89%）患者的出血时间测量结果仍非常延长（>15分钟）。携带HPS 1基因突变的患者与给予DDAVP后的不良反应具有统计学显著相关性（P = 0.03）。
DDAVP很少能改善患有HPS的波多黎各儿童的出血时间。应单独确定对DDAVP的反应，对于严重出血发作或外科手术，血小板输注仍应是首选治疗方法。
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