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Alport sendromu

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2002

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Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
The recent developments involving the molecular basış, diagnosis and treatment of Alport's syndrome was revievved. The determination of the nature of type IV collağen and localisation of its genes have provided new insights in the understanding of the different sign and symptoms of Alport's syndorme and helped to reach new approaches in diagnosis and treatment. Immunohistochemicai examinations may help to distinguish the X linked and autosomal forms of Alport's syndrome. The genomic investigations may be required İn suspected cases. İn this disease with no effective treatment the gene therapy ıs promising.
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Abstract (Original Language): 
Alport sendromunun moleküler temelleri, tanı ve tedavisindeki yenilikleri gözden geçirildi, kollajen IV protein dizisi ve ilgili genlerin yerlerinin bulunması, Alport sendromundaki çok farklı klinik bulgu ve belirtilen açıklanmasını sağlamış, tanı ve tedavide yeni yaklaşımların geliştirilmesine yardımcı olmuşutru. İmmünohistokimyasal incelemeler Alport sendromunun X'e bağlı ve otozomal şekillerinin ayırdedilmesinde yardımcı olur. Şüpheli durumlarda genomik incelemeler yapılabilir, halen etkili bir tedavisi olmayan hastalıkla gen tedavisi ile ilgili çalışmalar gelecek için ümit vadetmektedir.
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  • 1
71-77
  • Turkish

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