Zhvania Pikria, Hoyle Naomi Sulinger, Nadareishvili Lia, Nizharadze Dea, Kutateladze Mzia
Eliava Phage Therapy Center, Tbilisi, Georgia.
G. Eliava Institute of Bacteriophages, Microbiology and Virology, Tbilisi, Georgia.
Front Med (Lausanne). 2017 Jul 3;4:94. doi: 10.3389/fmed.2017.00094. eCollection 2017.
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.
Netherton综合征(NS)是一种罕见的常染色体隐性疾病,其特征为具有经典的三联临床特征,包括先天性鱼鳞病样红皮病、套叠性脆发症、特应性素质以及频繁的细菌感染(1)。该疾病的遗传基础最近已确定为SPINK5基因突变,该基因参与皮肤屏障形成的调节。我们报告了一名16岁男性,具有NS的所有典型表现,包括特应性素质、持续严重的葡萄球菌感染以及对多种抗生素过敏。当所有其他治疗选择均告失败时,其家人在埃利亚瓦噬菌体治疗中心寻求帮助。使用几种抗葡萄球菌噬菌体制剂进行治疗,在7天内症状显著改善,治疗6个月后其症状和生活质量发生了非常大的变化,包括在家持续使用噬菌体3个月和6个月后回访埃利亚瓦噬菌体治疗中心。