ISSN: 1305-385X
Hakkında: Özel sayılar şeklinde yayınlanır.
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Monogenic Diseases And Diagnostic Methods In Nephrology
Dr. Halil YAZICI,a Dr. Kıvanç ÇEFLEb
aNefroloji BD, bTıbbi Genetik BD, İstanbul Üniversitesi İstanbul Tıp Fakültesi, İSTANBUL
Patients with renal diseases often present with a wide range of symptoms and signs. Vascular, glomerular, tubular parts of the kidney are effected in these diseases. More accurate diagnosis and knowledge of the pathogenesis in detail are possible by means of advancement in our laboratory methods of molecular genetics. At the beginning, our knowledge was limited by only phenotype of tubular transporting system and then genetic improvement identified this renal disease are caused by genetic defects which transport with mendelian inheritance. There has been widespread interest in the concept that genetic predisposition plays significacnt role in familial glomerular diseases. Also candidate genes identified by genetic methods. Evaluation of genetic properties and causative mutations in cystic renal diseases which are the most common is very important for clinical diagnosis. We believe that either diagnostic modalities or treatment will improve with widespread usage of genetic modalities as a diagnostic procedure.Keywords: Kidney diseases, genetics, molecular diagnosisTurkiye Klinikleri J Int Med Sci 2006, 2(38):57-64
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