Advance in diagnosis and treatment of mucopolysaccharidosis type Ⅱ / 国际儿科学杂志

ABSTRACT

Mucopolysaccharidosis type Ⅱ(MPS Ⅱ)is a rare and life-threatening X-linked recessive disease.Due to the deficiency of the enzyme iduronate-2-sulfatase(IDS), heparan sulphate and dermatan sulphate can not degrade and accumulate in lysosomes.It leads to progressive pathological dysfunction in multiple cells, tissues and organs.The clinical manifestations of patients are highly heterogeneous.This disease is generally categorized in two clinical subtypes according to the neurological involvement severe and attenuated forms.The severe form is characterized by progressive neurologic impairment.The gold standard for the diagnosis is confirmed by the measurement of IDS enzyme activity in blood leukocytes or skin fibroblasts.Enzyme replacement therapy can improve many of the signs and symptoms and overall wellbeing in patients with MPSⅡ.Haematopoietic stem cell transplantation can be carefully chosen.