Poor response to Desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome
Poor response to Desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome
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DOI：
10.1002/pbc.20210
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发表时间：
2005-01-01
影响因子：
3.2
通讯作者：
Santiago-Borrero, PJ
中科院分区：
文献类型：
--
作者：
Cordova, A;Barrios, NJ;Santiago-Borrero, PJ
背景。Hermansky-Pudlak综合征（HPS）是波多黎各一种常见的遗传性疾病。在患有HPS的儿童中，出血是最令人不安和丧失能力的问题。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。方法。19名患有HPS和出血时间延长（BT）的波多黎各儿童患者对DDAVP的反应进行了测试。结果。18例（95%）患者基线BT异常。使用DDAVP后，2例患者（11%）的BT得到改善：1例从7.2到5.6分钟，另1例从8到6分钟（表II和III）。17例（89%）患者的BT测量时间持续很长（约15分钟）。HPS I基因突变患者与DDAVP后不良反应的相关性有统计学意义（P-0.03）。结论。DDAVP很少改善波多黎各HPS儿童的BT。应单独确定对DDAVP的反应，血小板输注仍应作为大出血或外科手术的治疗选择。(C) 2004 Wiley-Liss, Inc。
Background. 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. Methods. Nineteen pediatric Puerto Rican patients with HPS and prolonged bleeding time (BT) were tested for response to administration of DDAVP. Results. 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 I gene mutation had a statistically significant correlation with the poor response following DDAVP (P-0.03). Conclusions. 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. (C) 2004 Wiley-Liss, Inc.