title: Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.
abstract: OBJECTIVE
  Since enzyme replacement treatment (ERT) with idursulfase is available for Hunter syndrome (HS; mucopolysaccharidosis type II), for the first time, disease progression can be limited and organ damage reduced or prevented.
  
  
  METHODS
  We described retrospectively the clinical evolution of eight HS males, treated with ERT and followed in routine clinical practice in Hospital Infantil La Fe (Valencia, Spain).
  
  
  RESULTS
  We studied three children, three adolescents and two adults. Time from diagnosis to ERT ranged from 13.7 to 0.2 years, and duration of ERT ranged from 24 to 77.1 months. From the start of ERT, weight and height increased in children and adolescents and remained stable in adults. Glycosaminoglycans (GAG) decreased in all patients; in patient 5 (aged 23 years), we observed the highest reduction (86%) with recovery of carpal tunnel syndrome, splenomegaly and a decrease in nocturnal oxygen dependence.
  
  
  CONCLUSIONS
  Our results show that ERT improve respiratory impairment and organomegalies and decrease GAGs levels in all patients including children, adolescent and adults. While cardiac manifestations and facial features stabilized, responses in other parameters were heterogeneous.
authors.affiliation: Unidad de Nutrición y Metabolopatías, Hospital Infantil La Fe, Valencia, Spain. Electronic address: dalmau_jai@gva.es.
authors.forename: Jaime
authors.initials: J
authors.lastname: Dalmau Serra
authors.affiliation: Unidad de Nutrición y Metabolopatías, Hospital Infantil La Fe, Valencia, Spain.
authors.forename: Isidro
authors.initials: I
authors.lastname: Vitoria Miñana
authors.affiliation: Unidad de Neumología y Alergia Pediátrica, Hospital Infantil La Fe, Valencia, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Calderón Fernández
authors.affiliation: Unidad de Neumología y Alergia Pediátrica, Hospital Infantil La Fe, Valencia, Spain.
authors.forename: Isidoro
authors.initials: I
authors.lastname: Cortell Aznar
mesh_terms: D000293:Adolescent; D002349:Carpal Tunnel Syndrome / Q000188:drug therapy / Q000209:etiology; D002648:Child; D056947:Enzyme Replacement Therapy; D019066:Facies; D006025:Glycosaminoglycans / Q000652:urine; D006529:Hepatomegaly / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000188:drug therapy* / Q000473:pathology / Q000652:urine; D011788:Quality of Life; D012120:Respiration Disorders / Q000188:drug therapy / Q000209:etiology; D012189:Retrospective Studies; D013163:Splenomegaly / Q000188:drug therapy / Q000209:etiology; D063189:Symptom Assessment; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D006025:Glycosaminoglycans; D007066:Iduronate Sulfatase; C517982:idursulfase
keywords: Adolescents; Adultos; Adults; Airway obstruction; Carpal tunnel syndrome; Children; Cuestionario sobre evolución del Síndrome de Hunter; Enzyme replacement treatment (ERT); Esplenomegalia; Glucosaminoglicanos (GAG); Glycosaminoglycans (GAG); Hunter Outcome Survey (HOS); Hunter syndrome; Idursulfasa; Idursulfase; Mucopolisacaridosis; Mucopolysaccharidoses; Niños; Obstruccion de vias aereas; Sindrome del tunel carpiano; Splenomegaly; Síndrome de Hunter; Terapia de reemplazo enzimático