Genetic approaches in pediatric nephrology

Abstract

It is well known that many pediatric kidney diseases are caused by genetic abnormalities. Genetic approach is important for confirmation of diagnosis, precise genetic counseling, better understanding of pathophysiology and supporting clinical management. As diagnostic technologies for genetic approach, we can utilize chromosomal karyotyping, Sanger DNA sequencing, microarray-based comparative genomic hybridization (array CGH), multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing technology. The array CGH and MLPA were recently developed, and are useful for detecting copy-number variation such as deletions and duplications. The next generation sequencing, another recently developed technology, was useful for genome-wide search for gene mutations. In this review, a few cases of childhood genetic renal diseases, mainly congenital anomalies of kidney and urinary tract (CAKUT), whose genetic abnormalities were detected by relatively new techniques, were presented. The study group for rare intractable diseases in kidney and urinary tract funded by the Health and Labour Sciences Research Grants for Research on Rare and Intractable Diseases was set up in 2012 in Japan. In this review, researches in this study group were also introduced.