Table of Contents

• Introduction
• Epidemiology
• Molecular Basis of Disease
• Clinical Manifestations
• Clinical Management of PKD
• Therapies
• Summary and Conslusion
• Bibliography
• Author Biographies

About the Author

Cristian V. Riella received his M.D. from Universidade Federal do Paran�, 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. Peter Czarnecki earned his M.D. degree from the University of Freiburg in Germany, where he worked on biochemical interactions between nephronophthisis proteins in the laboratory of Gerd Walz. He moved to the Mayo Clinic, Rochester, MN, for his residency training in internal medicine and his fellowship in critical care medicine. At the Mayo Clinic, he continued his basic research on ciliopathies in the laboratory of Peter Harris. He came to the Beth Israel Deaconess Medical Center in Boston, MA, for his training in nephrology. He conducted clinical research in polycystic kidney disease under the mentorship of Ted Steinman, and he was a co-investigator on the HALT-PKD trials. At the same time, he pursued further basic research in ciliary biology with Jagesh Shah at Brigham and Women's Hospital, characterizing developmental signaling mechanisms in the ciliary Inversin Compartment. He took his first faculty position as Associate Physician in the Division of Renal Medicine at Brigham and Women's Hospital in 2014 and was appointed Instructor in Medicine at Harvard Medical School. He is member of the Harvard PKD center, continues his basic research in ciliary biology, and started a new subspecialty clinic for cystic and genetic kidney diseases at BWH. Dr. Theodore I. Steinman, a Philadelphia native and a 1956 graduate from Olney High School, received his undergraduate degree in 1960 from Penn State University (B.S. in Pre-Medicine) and his M.D. from Georgetown University School of Medicine in 1964. Internship and junior residency in Internal Medicine were at Cedars-Sinai Medical Center, Los Angeles, CA. Senior Internal Medicine residency was completed at Beth Israel Hospital, Boston in 1969, following a 2-year tour of duty in the U.S. Navy (1966-1968), serving one year in Vietnam as the battalion surgeon with a Marine infantry battalion. Advanced Nephrology Fellowship training was at Tufts New England Medical Center, Boston (1969-1971) under the leadership of Drs. William B. Schwartz and Jerome B. Kassirer. From there Dr. Steinman returned to Beth Israel Hospital in 1971 to found the dialysis and kidney transplantation programs, and was the Director of the programs for the next 31 years.