Kalıtımsal Kistik Böbrek Hastalıklarına Yaklaşım

Year 2015, Volume: 13 Issue: 1, 40 - 45, 01.06.2015

Aysel Taktak , Nilgün Çakar

https://doi.org/10.4274/jcp.40427

Abstract

Kistik böbrek hastalıkları, kalıtımsal böbrek hastalıkları içinde en sık görülen grup olup, her biri farklı etiyoloji, patogenez, klinik prezentasyon ve prognoza sahiptir. Hastalığın tanısı aile öyküsü, klinik bulgular ve görüntüleme yöntemleriyle konulabilmektedir ancak bazı olgularda kesin tanı için genetik çalışma gerekebilir. Son on yıl içerisinde kistik böbrek hastalıklarının etyopatogeneziyle ilgili birçok yeni bilgi kazanılmıştır. Edinilen bilgiler özellikle primer siliyanın bozulmuş mekanik algılama fonksiyonu, artmış proliferasyon ve iletişim yolaklarının kist gelişiminin temelini oluşturduğunu işaret etmektedir. Bu derlemede kalıtımsal kistik böbrek hastalıklarının patogenezi, belirtileri ve tanıda genetik incelemenin yeri tartışılmıştır

Keywords

Kistik böbrek hastalıkları, kalıtımsal

Approach to Inherited Cystic Kidney Disease

Abstract

Cystic kidney diseases are the most frequent form of inherited kidney diseases which have different etiology, pathogenesis, clinical presentation and prognosis. Although diagnosis based on, family history, clinical presentation and imaging modalities, in some circumstances genetic testing can be required. In the last decade a lot of new information about the pathogenesis of cystic kidney diseases have been reported. It has been showed that, deteriorated mechanical sensing function of primary cilia, increased proliferation and signaling pathways constitute the basis of cyst development. In this review the pathogenesis, clinical presentation and genetic evaluation of inherited cystic kidney diseases have been discussed

Keywords

Cystic kidney disease, inherited

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