Osteoarthropathy in mucopolysaccharidosis type II.

ABSTRACT:

Introduction

Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability. In our country, the specific diagnosis and enzyme replacement therapy (ERT), are recently available in the Center for Genetic Pathology Cluj.

Objectives

Assessment of clinical features, radiological and imaging of osteoarthropathy in MPS type II and their evolution under ERT.

Material and methods

The study included 9 male patients with a suggestive clinical picture of MPS type II; the diagnosis was confirmed by enzymatic assay and the patients were tre

SUBMITTER: Nascu I 

PROVIDER: S-EPMC4462490 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature