Polycystic Kidney Disease - Riella, Christian; Czarnecki, Peter G.; Steinman, Theodore I.
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This book reviews important aspects of polycystic kidney diseases, the latest scientific understanding of the diseases and syndromes, along with the therapies being developed. Cystic kidney diseases comprise a spectrum of genetic syndromes defined by renal cyst formation and expansion with variable extrarenal manifestations. The most prevalent disorder is the autosomal dominant polycystic kidney disease (ADPKD). It is the most common monogenetic disorder in humans and accounts for 4.4% of end-stage renal disease (ESRD) cases in the U.S. Patients inevitably progress to ESRD and require renal…mehr

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Produktbeschreibung
This book reviews important aspects of polycystic kidney diseases, the latest scientific understanding of the diseases and syndromes, along with the therapies being developed. Cystic kidney diseases comprise a spectrum of genetic syndromes defined by renal cyst formation and expansion with variable extrarenal manifestations. The most prevalent disorder is the autosomal dominant polycystic kidney disease (ADPKD). It is the most common monogenetic disorder in humans and accounts for 4.4% of end-stage renal disease (ESRD) cases in the U.S. Patients inevitably progress to ESRD and require renal replacement therapy in the form of dialysis or transplantation. Through advancements in genomics and proteomics approaches, novel genes responsible for cystic diseases have been identified, further expanding our understanding of basic mechanisms of disease pathogenesis. The hallmark among all cystic genetic syndromes is the formation and growth of fluid-filled cysts, which originate from tubular epithelia of nephron segments. Cysts are the disease, and treatment strategies are being developed to target prevention or delay of cyst formation and expansion at an early stage, however no such therapy is currently approved.
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Autorenporträt
Cristian V. Riella received his M.D. from Universidade Federal do Paraná, Brazil in 2010. He then moved to Boston, for his post-graduate studies, where he completed training in internal medicine at Tufts University (2010-2013), followed by a clinical nephrology fellowship, at Beth Israel Medical Center (BIDMC), Harvard Medical School (2013-2015). He currently holds a position as Research Fellow at BIDMC. During his clinical training in nephrology, Dr. Riella had extensive exposure to polycystic kidney disease patients under the mentorship of Dr. Theodore Steinman, with whom he has published review articles and chapters on the subject. His main field of research is on inherited kidney diseases, focused on Apolipoprotein L1 (APOL1) genetic variants and its association with focal segmental glomerulosclerosis. Other interests include RNA sequencing, microRNA biology, computational biology and machine learning applications for biology research. Dr. Riella contributes actively to medical education as a tutor for the courses of Practice of Medicine and Renal Pathophysiology, Harvard Medical School.