Genetic Diagnosis of Renal Diseases: Basic Concepts and Testing

摘要: The genomic architecture of kidney disease has fascinated developmental biologists and human geneticists for over four decades. Seminal discoveries note include the discovery genes implicated in autosomal dominant/recessive polycystic disease, nephronophthisis nephrotic syndrome. Uncovering disease-causing not only helped refine our pathogenetic understanding many renal diseases, but cases it directly translated into concrete improvement patient care. recent emergence next generation sequencing strategies dramatically accelerated process, constitutes cornerstone towards realization personalized medicine. This chapter provides a brief overview basic genomic/genetic concepts before delving advances that are pertinent to practice contemporary pediatric nephrologists. From laboratory methods interpretation genetic variants, every topic is presented within clinical framework enriched with numerous examples from nephrology literature. major benefits genomics on day-to-day busy clinicians as follows: will expediate diagnosis, clarify prognosis guide therapeutic choices. Our overarching goals this were twofolds: first convince “already overloaded information” learning about worthwhile investment pay dividends short-term, while at same time providing an accessible port entry complex field.