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Updated: May 3, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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ネサートン症候群:病原性,臨床的表れ,治療戦略に関する包括的な文献レビュー

Martyna Mocarska1, Adrianna Muciek2, Julia Dolinkiewicz3

  • 1Gabriel Narutowicz Municipal Specialist Hospital, Cracow, Malopolska, Poland.

Journal of mother and child
|September 3, 2025
PubMed
まとめ

Netherton症候群 (NS) は,SPINK5遺伝子変異によって引き起こされる稀な遺伝性皮膚疾患であり,重度の皮膚障壁問題と免疫不調を引き起こす. 現在の治療は 支援的ですが 新しい標的治療は この複雑な病気の治療に 有望です

キーワード:
アトピー性皮膚炎ネサートン症候群SPINK5遺伝子バンブー毛トリコレキス・インヴァギナタ

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