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Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome

机译:患有Netherton综合征的16岁男孩的噬菌体治疗

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Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of formation of skin barriers. We report on a 16-year-old male with all the typical manifestations of NS, including atopic diathesis and ongoing serious staphylococcal infections and allergy to multiple antibiotics whose family sought help at the Eliava Phage Therapy Center when all other treatment options were failing. Treatment with several antistaphylococcal bacteriophage preparations led to significant improvement within 7 days and very substantial changes in his symptoms and quality of life after treatment for 6 months, including return visits to the Eliava Phage Therapy Center after 3 and 6 months of ongoing use of phage at home.
机译:Netherton综合征(NS)是一种罕见的常染色体隐性遗传疾病,其特征是具有经典的三联征,包括先天性鱼鳞状红皮病,内陷性滴虫,特应性素质以及频繁的细菌感染(1)。最近已通过基因SPINK5的突变鉴定出该病的遗传基础,该基因参与调节皮肤屏障的形成。我们报道了一名16岁的男性,具有所有NS的典型表现,包括特应性素质和持续严重的葡萄球菌感染以及对多种抗生素的过敏,当其他所有治疗方法均告失败时,其家人在Eliava噬菌体治疗中心寻求帮助。用几种抗葡萄球菌噬菌体制剂进行治疗可在7天之内显着改善,并且治疗6个月后其症状和生活质量发生了非常大的变化,包括在继续使用噬菌体3个月和6个月后回访了Eliava噬菌体治疗中心。家。

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