Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome

Autores de IIS La Fe

• Jaime Dalmau Serra

  Autor

• Isidro Vitoria Miñana

  Autor

• Rafael Calderon Fernandez

  Autor

• Isidoro Cortell Aznar

  Autor

Grupos

• Alergia y enfermedades respiratorias de la Infancia

• Nutrición y Metabolopatías

Abstract

Background and 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. Patients and 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. Conclusion: 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. (C) 2015 Elsevier Espana, S.L.U. All rights reserved.

Keywords

• Hunter syndrome; Mucopolysaccharidoses; Hunter Outcome Survey (HOS); Glycosaminoglycans (GAG); Adults; Adolescents; Children; Enzyme replacement treatment (ERT); Idursulfase; Splenomegaly; Carpal tunnel syndrome; Airway obstruction