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Kalıtsal Podosit Hastalıkları

Inherited Podocyte Diseases

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2004

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Podocytes are present in the glomerular capillary wall and they are the target cells injured in many diseases. In the past few years genetic studies performed especially in the familial nephrotic syn¬drome cases have shed light on the recognition of the structure of the glomerular filtration barrier and inherited podocyte disease. Mutations of the podocyte proteinslike nephrin, podocin and a-actinin have been shown to be responsible for the hereditary an familial nephrotic sydromes. Detection of mutations in congenital nephrotic syndrome of the Finnish type, autosomal recessive steroid resistant nephrotic syndrome and autosomal dominant focal segmental glomerulosclero-sis lead to improvement in the diagnosis and treatment of these patients. The relevant studies are being carried out more rapidly in accordance with the advances in genetic sciences.
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Abstract (Original Language): 
Podositler glomerül kapiller duvarında bulunan ve birçok hastalıkta hasar gören hedef hücrelerdir. Son yıllarda özellikle ailevi nefro-tik sendrom olgularında yapılan genetik çalışmalar glomerüler filtras-yon bariyerinin yapısının ve kalıtsal podosit hastalıklarının daha iyi tanınmasını sağlamıştır. Nefrin, podosin, a-actinin gibi podosit proteinlerini kodlayan genlerdeki değişimlerin doğumsal ve ailevi nefro-tik sendromlardan sorumlu olduğu gösterilmiştir. Fin tipi konjenital nefrotik sendrom, otozomal resesif steroide dirençli nefrotik send-rom, otozomal dominant fokal segmental glomerüloskleroz gibi has¬talıklara sebep olan gen değişimleri tespit edilerek, bu hastalıkların tanı ve tedavisinde önemli gelişmeler sağlanmıştır. Genetik bilimindeki ilerlemeler sayesinde bu çalışmalar hız kazanarak devam etmek¬tedir.
FULL TEXT (PDF): 
PDF icon pdf_tndt_464.pdf
  • 3
125-129
  • Turkish

REFERENCES

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