Mucopolysaccharidosis type II?

summary

This type, also known as Hunter syndrome, was first described by Hunter (1917). Mekusick (1965) classified it as mucopolysaccharide storage disease type II, which belongs to sex linked recessive inheritance. All the patients were male, and the mother of the patient was a carrier but did not develop the disease. Now let's talk about mucopolysaccharidosis type II?

Mucopolysaccharidosis type II?

1. Due to the lack of iduronate sulfatase in patients, the degradation of acid mucopolysaccharide is hindered. The gene of iduronate sulfatase is located in xq27.3-q28. Due to the lack of iduronate sulfatase, excessive mucopolysaccharide is deposited in tissue cells and excreted with urine. With the increase of mucopolysaccharide deposition in tissues and cells, dysfunction occurs.

2. Most of them were normal at birth, and they began to develop backward from the age of 2 years, with mild huller syndrome in bone and face, but it was mild, occurred late and progressed slowly. There may be ankylosis, claw like hand, short and small, but no kyphosis. The skin is wrinkled or nodular thickening, especially in the upper limbs and chest, sometimes symmetrical and hairy. Can be due to retinal degeneration and blindness. There is often progressive deafness. Hepatosplenomegaly with chronic diarrhea.

There is snoring sound in breathing, often accompanied by chronic respiratory tract infection. Pulmonary hypertension and coronary artery infarction are also common. Heart enlargement is often accompanied by systolic and diastolic murmurs. Severe mental retardation was more obvious.

matters needing attention

The most promising treatment methods are specific enzyme replacement therapy and gene therapy, which can improve the clinical manifestations and survival of patients; Other symptomatic treatment can be taken. The clinical symptoms of this type are similar to those of type I, but they are mild and the progress of lesions is slow. Most of them were normal at birth, most of them died before the age of 15 in severe cases, and most of them survived to middle age in mild cases. The cause of death was congestive heart failure or myocardial infarction.