نتایج جستجو برای: mucopolysaccharidosis type
تعداد نتایج: 1343233 فیلتر نتایج به سال:
10.1586/14750708.3.1.9 © 200 Since enzyme-replacement therapy has been successfully introduced for patients with Gaucher disease, Fabry disease and mucopolysaccharidosis Type I, the principle of this treatment has also been taken into consideration for individuals who are affected by mucopolysaccharidosis Type VI (Maroteaux–Lamy disease), a rare lysosomal storage disorder with multiple organ an...
ムコ多糖症は身体中に存在するムコ多糖が沈着する遺伝疾患であり，VII型は中でもまれな疾患である．過去の全身麻酔導入時に換気困難があったムコ多糖症VII型患児に対する全身麻酔を経験した．症例は7歳男児．2歳6カ月時に挿管直後に呼気性喘鳴と換気困難のため手術中止となった．今回の麻酔導入には拮抗可能な薬剤を用いて鎮静下で喉頭展開容易であることを確認することで安全に気道確保を行った．術中，術後ともに問題なく経過し退院した．一般的にムコ多糖症は麻酔管理上，気道確保が問題とされるが病型に依る．本症例では問題なく気道確保できたが，VII型はまれな疾患であり症例報告は少なく麻酔管理に関する経験の蓄積が必要である．
Aims Morquio syndrome is a mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1 per 200000 live births globally. Besides, Middle Eastern cases shape the greatest ratio, due to higher rates of consanguineous marriages. The ...
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive disorder characterized by a deficiency of the enzyme iduronate-2-sulfatase leading to a multisystem involvement by tissue accumulation of glycosaminoglycans heparan and dermatan sulfate. We report a case of a 9-year-old boy diagnosed with mucopolysaccharidosis type II at 4 years of age, classified as severe variant. He presented ne...
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
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