title: Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome.
abstract: 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 1 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.
authors.affiliation: Department of Pediatric Hematology/Oncology, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.
authors.forename: Ana
authors.initials: A
authors.lastname: Cordova
authors.forename: Nilka J
authors.initials: NJ
authors.lastname: Barrios
authors.forename: Idith
authors.initials: I
authors.lastname: Ortiz
authors.forename: Enid
authors.initials: E
authors.lastname: Rivera
authors.forename: Carmen
authors.initials: C
authors.lastname: Cadilla
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Santiago-Borrero
mesh_terms: D000293:Adolescent; D001760:Bleeding Time; D002648:Child; D002675:Child, Preschool; D003894:Deamino Arginine Vasopressin / Q000494:pharmacology* / Q000627:therapeutic use*; D005260:Female; D006490:Hemostatics / Q000494:pharmacology* / Q000627:therapeutic use*; D022861:Hermanski-Pudlak Syndrome / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D008297:Male; D016896:Treatment Outcome
chemical_list: D006490:Hemostatics; D003894:Deamino Arginine Vasopressin