Hunter syndroma

Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease Is caused by deficiency of the lysosomal enzyme iduronate-۲-sulphatase (I۲S) due to mutations In the IDS gene, which leads to accumulation of glycosaminoglycans (GAGs). Deficiency of I۲S enzyme activity in patients with MPS II leads to progressive lysosomal storage of GAGs in the liver, spleen, heart, bones, joints, and respiratory tract. This process disturbs cellular functioning and leads to multisystemic disease manifestations. Symptoms and their time of onset differ among patients. GAG accumulation leads to progressive cardiac valvular disease, pulmonary dysfunction, and skeletal deformities. Two thirds of individuals with MPS II have the severe or neuronopathic form of the disease which manifests as early cognitive impairment with progressive neurological decline; without treatment, this leads to death in the first or second decade of life. Breathing impairment is recognized as a major cause of morbidity and mortality, with respiratory failure representing a common cause of death In affected patients . Upper airway complications are a common presenting problem and individuals are frequently treated for upper airway problems prior to diagnosis of MPS II.

کلیدواژه ها:

MPS II ، CNS ، Gene ، Enzyme ، airway ، Common