metricas
covid
Buscar en
Medicina Clínica (English Edition)
Toda la web
Inicio Medicina Clínica (English Edition) Clinical response to long term enzyme replacement treatment in children, adolesc...
Journal Information
Vol. 145. Issue 9.
Pages 392-398 (November 2015)
Share
Share
Download PDF
More article options
Visits
7
Vol. 145. Issue 9.
Pages 392-398 (November 2015)
Clinical report
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome
Respuesta clinica al tratamiento prolongado con terapia de reemplazo enzimático en niños, adolescentes y adultos con Síndrome de Hunter
Visits
7
Jaime Dalmau Serraa,
Corresponding author
dalmau_jai@gva.es

Corresponding author.
, Isidro Vitoria Miñanaa, Rafael Calderón Fernándezb, Isidoro Cortell Aznarb
a Unidad de Nutrición y Metabolopatías, Hospital Infantil La Fe, Valencia, Spain
b Unidad de Neumología y Alergia Pediátrica, Hospital Infantil La Fe, Valencia, Spain
This item has received
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (4)
Show moreShow less
Tables (3)
Table 1. Demographic data and characteristics of patients with Hunter syndrome.
Table 2. Signs and symptoms at baseline.
Table 3. Evolution of results of spirometry testing.
Show moreShow less
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.

Keywords:
Hunter syndrome
Mucopolysaccharidoses
Hunter Outcome Survey (HOS)
Glycosaminoglycans (GAG)
Adults
Adolescents
Children
Enzyme replacement treatment (ERT)
Idursulfase
Splenomegaly
Carpal tunnel syndrome
Airway obstruction
Resumen
Introducción y objetivo

Desde que la Terapia de reemplazo enzimático (TRE) con Idursulfasa está disponible para el Síndrome de Hunter (SH; mucopolisacaridosis tipo II) la progresión de la enfermedad puede limitarse y posiblemente reducir y prevenir el daño orgánico.

Pacientes y métodos

Describimos retrospectivamente la evolución de 8 pacientes con SH, tratados con TRE y revisados según práctica clínica habitual en el Hospital Infantil La Fe (Valencia, España).

Resultados

Estudiamos 3 niños, 3 adolescentes y 2 adultos El tiempo desde el diagnóstico hasta inicio de TRE fue de 0,2 a 13,7 añosy la duración de la TRE de 24 a 77,1 meses. Tras iniciar la TRE, el peso y la talla de los niños y adolescentes se incrementaron permaneciendo estable en los adultos. Los glucosaminoglicanos (GAG) disminuyeron en todos los pacientes; la mayor reducción (86%) se observó en un adulto que mejoró el túnel carpiano, disminuyó la esplenomegalia y la dependencia nocturna de oxígeno.

Conclusión

Nuestros resultados muestran que la TRE mejora la función respiratoria, las organomegalias y reducen los niveles e GAGs urinarios en todos los pacientes incluyendo niños, adolescentes y adultos. Las manifestaciones cardiacas y facials permanecieron estables. Los resultados en otros parámetros fueron heterogeneos.

Palabras clave:
Síndrome de Hunter
Mucopolisacaridosis
Cuestionario sobre evolución del Síndrome de Hunter
Glucosaminoglicanos (GAG)
Niños
Adolescents
Adultos
Terapia de reemplazo enzimático
Idursulfasa
Esplenomegalia
Sindrome del tunel carpiano
Obstruccion de vias aereas

Article

These are the options to access the full texts of the publication Medicina Clínica (English Edition)
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Medicina Clínica (English Edition)

Purchase
Purchase article

Purchasing article the PDF version will be downloaded

Price 19.34 €

Purchase now
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
E-mail
Article options
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos