酶替代疗法
医学
溶酶体贮存病
粘多糖病
肺结核
潜伏性肺结核
I型粘多糖病
新生儿筛查
疾病
儿科
不利影响
基质还原疗法
粘多糖病Ⅰ
法布里病
外科
内科学
结核分枝杆菌
病理
作者
Lauma Vasiļevska,Madara Auzenbaha,Ieva Grīnfelde,Anita Skangale
标识
DOI:10.3389/fped.2022.973193
摘要
Mucopolysaccharidosis type I S (MPS IS) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the IDUA gene, leading to a deficiency of the enzyme alpha-L-iduronidase. Enzyme replacement therapy (ERT) reduces lysosomal storage in the liver and improves clinical manifestations. To date, there are no published reports of tuberculosis (TB) treatment in MPS IS patients receiving ERT and as such it is not known whether both conditions can be treated simultaneously. Here, we report the case of a 14-year-old male with MPS IS receiving ERT with laronidase who was diagnosed with a latent TB infection after being in contact with a multi-drug-resistant TB patient. He received prophylactic TB treatment with moxifloxacin for 6 months. No complications were reported and there has been no active TB disease. Our case report demonstrates that TB and MPS IS can be treated simultaneously without serious adverse effects.
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