EC Paediatrics

Research Protocol Volume 12 Issue 1 - 2023

Hunter Disease: When We Suspected?

Jorge Sales Marques*

Pediatric Department, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal

*Corresponding Author: Jorge Sales Marques, Pediatric Department, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal.
Received: April 27, 2022; Published: December 30, 2022



Hunter disease, also known as mucopolysaccharidosis type 2 (MPS 2), is a lysosomal storage disorders (LSD) caused by a deficiency of iduronate-2-sulfatase. It is a rare x-linked disorder.

The patient will appear with Hurler-like phenotype with coarse face, hepatosplenomegaly, cardiovascular disorders, dysostosis multiplex, dwarfism, deafness, but no corneal clouding like in Hurler disorder.

These patients can be treated with enzyme replace therapy (ERT), Elaprase, 0.5 mg/kg IV once a week.

Genetic counselling and prenatal diagnosis should be offered for the couple because the risk of recurrence is 50% in the next pregnancy.

Keywords: Hunter; Diagnosis; Enzyme Replace Therapy

Jorge Sales Marques. Hunter Disease: When We Suspected?. EC Paediatrics 12.1 (2023): 88-89.