Anesthetic Management for Mucopolysaccharidosis Type VII
نویسندگان
چکیده
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．
منابع مشابه
Sly Disease: Mucopolysaccharidosis Type VII.
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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Recombinant mouse beta-glucuronidase administered intravenously to newborn mice with mucopolysaccharidosis type VII (MPS VII) is rapidly cleared from the circulation and localized in many tissues. Here we determine the tissue distribution of injected enzyme and describe its effects on the histopathology in 6-wk-old MPS VII mice that received either one injection of 28,000 U recombinant beta-glu...
متن کاملClinical course of sly syndrome (mucopolysaccharidosis type VII)
BACKGROUND Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease ha...
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beta-glucuronidase deficiency is an extremely rare disorder which is known to have a considerable phenotypic variation. A survey of the clinical findings in 19 previously reported patients with mucopolysaccharidosis VII is presented together with the results of clinical and biochemical studies in two further patients. Because a similar clinical picture is present in a heterozygotic sister it is...
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The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were ex...
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ژورنال
عنوان ژورنال: The Journal of Japan Society for Clinical Anesthesia
سال: 2022
ISSN: ['0285-4945', '1349-9149']
DOI: https://doi.org/10.2199/jjsca.42.462