This book reflects the extraordinary growth of knowledge on the genetic basis of kidney disease across all age groups over the past decades. These advances were greatly helped by remarkable improvements in sequencing technology and related fields of bioinformatics. Hereditary kidney disease once viewed as a relatively small and obscure side domain of medical genetics mostly studied and researched by pediatricians interested in kidney disease has evolved into a broad field of its own right, containing a substantial number of highly diverse disease spectra, that can overwhelm the beginner and may still confuse the senior physician.
Physicians and scientists working in all areas of kidney disease and related fields are confronted with many different sources of information with comprehensive and up to date textbooks now being largely absent. The aim of this book is to fill this gap by providing a useful reference to readers involved in the care of patients with kidney disease and give a first foothold to all those readers who wish to start their own research journey into the field.
Embryonic kidney Development.- Genetic background.- Genetic testing.-
Abnormalities of renal and urinary tract development.- Glomerular Diseases.-
Diseases of the proximal renal tubules.- Ciliopathies.- Renal Neoplasia.-
Monogenic disorders and multifactorial diseases.- Non genetic methods of
diagnostics.
Bodo B. Beck is a medical doctor and attending physician at the Institute of Human Genetics and the Center for Rare and Hereditary Kidney Disease at the University of Cologne Medical Center (UCMC) in Germany. He completed his training in Pediatrics, Pediatric Nephrology, and Medical Genetics (in this order) at the UCMC. His clinical and research focus are rare kidney disease and related disorders of metabolic control and renal homeostasis. Dr. Beck is also a principal investigator at the Center for Molecular Medicine Cologne (CMMC) in Germany.
Julia Hoefele is a Professor of Pediatrics and Human Genetics at the Institute of Human Genetics and at the Center for Rare Diseases of the University Hospital, Ludwigs-Maximilians University, Munich, Germany. During her postdoctoral research position at the Pediatric Nephrology Division of the University of Michigan, she was involved in the identification and characterization of novel genes implicated in hereditary nephropathies. Since then, the focus of her research work has been placed on the identification and functional characterization of monogenic kidney diseases, especially in children.
