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Böbreğin Kalıtsal Kistik Hastalıkları

Hereditary Renal Cystic Diseases

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2006

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
Polycystic kidney disease is one of the most common reasons of end stage renal failure. Polycystic kidney disease may result from many etiological factors, but frequently arises hereditarily. Autosomal dominant polycystic kidney disease (ADPKD), autosomal reces¬ sive polycystic kidney disease (ARPKD), nephronophthisis and me¬ dullary cystic kidney disease are the genetically inherited forms of polycystic kidney disease. The mutations of PKD1 gene at 16th chromosome and the mutations of PKD2 gene at 4th chromosome cause ADPKD. Mutations of a third gene are also thought to be responsible of polycystic kidney disease, but the locus of the gene has not be¬ en defined yet. PKD1 gene mutations are seen more frequently than PKD2 gene mutations and also PKD1 mutations are related with poor prognosis. It has been demonstrated that persistence of apoptosis after birth and overexpression or dislocation of EGF (epidermal growth factor) receptors are the causes of polycystic kidney disease. Absence or impairment of mechanoreseptors which conduct extra¬ cellular signals causes increased apoptosis, impaired proliferation, overexpression of growth factors, impaired polarity causes cyst for¬ mation. Gene therapy approaches include inhibition of apoptosis and EGF receptor activator tyrosine kinase.
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Abstract (Original Language): 
Polikistik böbrek hastalığı (PBH), son dönem böbrek yetmezliğinin en sık nedenleri arasında yer almaktadır. Kistik böbrek hastalığı yıllar içinde pek çok faktör nedeniyle oluşabileceği gibi, çoğunlukla kalıtsaldır. Otozomal dominant polikistik böbrek hastalığı (ODPBH), otozomal resesif polikistik böbrek hastalığı (ORPBH), nefronofitizis ve medüller kistik hastalık kalıtsal polikistik böbrek hastalıklarını oluşturmaktadır. ODPBH, 16. kromozom üzerine PKD1 ve 4. kromozom üzerinde PKD2 gen mutasyonları nedeniyle oluşmaktadır. Sorumlu olduğu düşünülen PKD3 geninin lokusu henüz tanımlanamamıştır. PKD1 gen mutasyonu PKD2 gen mutasyonundan daha sık görülmekte ve daha kötü prognoza neden olmaktadır. Apoptozisin baskılanamamasının, epidermal büyüme faktörü (EGF) reseptörlerinin yanlış yerleşimi ve fazlalığı nedeniyle polikistik böbrek hastalığına neden olduğu gösterilmiştir. Tübül hücrelerindeki intrasellüler sinyal iletiminde önemli rolü bulunan mekanoreseptörlerin yokluğu veya bozukluğu sonucu artmış apoptozis, bozulmuş proliferasyon, büyüme faktörlerindeki fonksiyonel değişim, polarite bozukluğu kist oluşumuna neden olmaktadır. Kistlerin gelişimi böbrek tübül segmentlerinin anormal proliferasyonu sonucu olmaktadır. Apoptozis ve EGF reseptör aktivatörü tirozin kinazın engellenmesi tedavi yaklaşımları arasında yer almaktadır.
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  • 2
77-83
  • Turkish

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