nephrology research & clinical update - wake forest ... grant committee and the chronic kidney...

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THE NEPHROLOGY SECTION AT WAKE FOREST BAPTIST MEDICAL CENTER had a banner year, receiving a total of four awards from the American Society of Nephrology (ASN), the American Society of Transplantation (AST) and the National Kidney Foundation (NKF) for excellence in the treatment of kidney disease and translational research. In addition, U.S. News & World Report’s 2012 – 2013 “Best Hospitals” ranked Wake Forest Baptist 12th in the nation for kidney disease care. ASN John P. Peters Award Thomas D. DuBose Jr., MD, chair of Internal Medicine, received the ASN John P. Peters Award in 2012, recognizing an individual who has made substantial research contributions to nephrology and sustained achievements in academic medicine, including clinical care, education and leadership. DuBose was president of the ASN in 2006 and served as a councilor and chair of the ASN grant committee and the Chronic Kidney Disease Advisory Group. He is a prior recipient of the NKF’s Donald W. Seldin Award. DuBose has made substantive contributions to the pathophysiology of acid-base disorders through translational observations at the Continued Excellence in Kidney Care and Research (continued on back page) Nephrology Research & Clinical Update bench that have directly impacted patient care. His findings have facilitated a clearer understanding of the interrelationships of potassium and acid-base homeostasis and the pathophysiology of and diagnostic studies for distal renal tubular acidosis. He is a respected and highly regarded educator who is frequently invited to teach in a number of venues. DuBose is committed to teaching at the medical and graduate student, resident and fellow levels and has received numerous teaching awards as a model clinician and bedside educator. AST Senior Achievement Award in Clinical Transplantation Recognized for outstanding contributions to clinical transplantation, Patricia L. Adams, MD, received the 2012 Senior Achievement Award in Clinical Transplantation from the AST. A founding member of the organization, Adams served two terms as a board member. She is past president of the Southeastern Organ Procurement Organization and the United Network for Organ Sharing. Adams served 30 years as a faculty member at Wake Forest Baptist, where she was medical director of the kidney transplant program. During her tenure, she and her medical and surgical colleagues increased transplants performed from 20 per year to more than 200 at present. NKF Awards Wake Forest Baptist nephrologists received two awards from the NKF. Barry I. Freedman, MD, chief of the Section on Nephrology, was named the 2013 recipient of the Shaul G. Massry Distinguished Lecture Award, which honors Dr. Massry’s scientific achievements and contributions to the kidney health care community and the NKF. Michael V. Rocco, MD, received the Garabed Eknoyan Award, which recognizes an individual who has promoted the NKF’s mission to make lives better for people with kidney disease through exceptional WAKE FOREST BAPTIST MEDICAL CENTER is a nationally recognized academic medical center and health system located in central North Carolina. Our clinical enterprise, Wake Forest Baptist Health, delivers advanced and compassionate care at our flagship hospital, as well as at Brenner Children’s Hospital, on our main campus in Winston-Salem, and through our affiliated hospitals, physicians and services. Wake Forest School of Medicine is our research and education arm, generating health discovery through groundbreaking research, and teaching tomorrow’s health care leaders. Leading the Nation in Nephrology Education Continued Excellence in Kidney Care and Research (continued from cover) contributions to the foundation’s key initiatives. “These achievements further establish Drs. Freedman and Rocco as leading clinicians and researchers who are advancing the field of kidney care,” said DuBose. “Together with our Medical Center’s nephrology team, they are pioneering discoveries to identify new treatment modalities that will change the way medicine is practiced.” Active Members of the Nephrology Community Freedman chairs the National Institute of Diabetes and Digestive and Kidney Diseases “Family Investigation of Nephropathy and Diabetes” (FIND) Steering Committee and the Board of Directors at End-Stage Renal Disease (ESRD) Network 6. He has been the principal investigator of seven National Institutes of Health (NIH) grants since 1997 and published more than 290 peer- reviewed manuscripts and editorials. His research focuses on identifying the genetic determinants of chronic kidney disease, diabetes mellitus, cardiovascular disease and bone disease, with a specific interest in ethnic disparities in kidney disease and atherosclerosis. His early studies detected marked familial clustering of disparate causes of ESRD in African American families, paving the way for identification of nephropathy genetic risk variants, including apolipoprotein L1 (APOL1). He has collected DNA samples from more than 16,000 subjects with or at risk for nephropathy and has proven that mild-moderate essential hypertension does not commonly initiate nephropathy in African Americans. His current research aims to detect the pathogenetic mechanisms underlying APOL1-associated nephropathy and identify treatable modifiers to prevent this disease in African Americans. Rocco serves as chair of the NKF Kidney Disease Outcomes Quality Initiative (KDOQI)™, which develops evidence- based clinical practice guidelines. He has also been vice-chair of KDOQI TM and its Hypertension Work Group. He was a work group member of the Centers for Medicare & Medicaid Services Clinical Performance Measures Project in hemodialysis and peritoneal dialysis. A leader in clinical trials in dialysis and chronic kidney disease, Rocco has been the principal investigator at Wake Forest for several NIH/National Institute of Diabetes and Digestive and Kidney Diseases trials, including the HEMO (Hemodialysis) Study, the Acute Renal Failure Trial Network, the Dialysis Access Consortium, the Frequent Hemodialysis Network and the NIH/National Heart, Lung, and Blood Institute Systolic Blood Pressure Intervention Trial (SPRINT). “Involvement in national kidney initiatives is a critical piece of our mission to provide the best in nephrology care,” said Rocco. “These networks give us valuable insight that translates into advances and improvements in patient care, education and research.” THE NEPHROLOGY SECTION at Wake Forest Baptist Medical Center is on the forefront of educating the nation’s nephrology community about advances in kidney care. Under the direction of John M. Burkart, MD, corporate director of Wake Forest University Outpatient Dialysis Facilities, the Medical Center continues its outreach initiatives to improve kidney disease care. Burkart has a long history with the International Society of Peritoneal Dialysis (ISPD), serving as council repre- sentative, treasurer and past president. He is a founding member of the Wake Forest Peritoneal Dialysis University (PDU), which has since evolved into the Home Dialysis University (HDU), an educational program co-sponsored by the ISPD for physicians and fellows. He currently serves as chair of the Wake Forest HDU, which has trained more than 2,750 physicians since 1999. Burkart is also involved in the ISPD’s efforts to expand the use of peritoneal dialysis globally. Representing the ISPD and small dialysis organizations, he has served as a member of the Centers for Medicare & Medicaid Services advisory council for dialysis reimbursement. “With a career rich in clinical expertise, hands-on education and leadership, Dr. Burkart is a natural fit for teaching trainees and physicians across the country about home hemo and peritoneal dialysis,” said Barry I. Freedman, MD, chief of the Section on Nephrology. “Under his direction, Wake Forest Baptist runs one of the largest academically owned-and-operated home dialysis programs in the nation.” The Medical Center’s large dialysis program includes 16 outpatient dialysis facilities and an outpatient vascular access center. The outpatient dialysis facilities provide in-center hemodialysis to 1,300 patients and home dialysis services to 260 patients each year, offering conventional hemodialysis and short daily hemodialysis using the NxStage™ system and nocturnal home dialysis. Burkart is also the chief medical officer of Health Systems Management (HSM), Inc., which operates and staffs 19 outpatient dialysis centers at Wake Forest Baptist and Emory Healthcare. “HSM is dedicated to helping academic medical centers efficiently run dialysis units, while giving physicians the autonomy needed to develop successful protocols and patient algorithms,” said Burkart. “Wake Forest’s extensive dialysis network gives us a unique viewpoint into how best to manage these facilities.” An active educator, Burkart has been co-director of the American Society of Nephrology (ASN) Board Review Course and Update program for the past four years. He also served as a member of the education committee and co-director of the dialysis course at ASN national meetings. Burkart has been involved in initiatives of the National Kidney Foundation (NKF) and the ISPD to establish guidelines for peritoneal dialysis that are intended to improve patient care standards. “As the dialysis network and community continue to grow and change, it will be more important than ever to commit to efforts that foster better understanding of kidney disease, with the end goal of improved patient care,” said Burkart. Michael V. Rocco, MD; Thomas D. DuBose Jr., MD; Barry I. Freedman, MD; and Patricia L. Adams, MD John M. Burkart, MD Medical Center Boulevard Winston-Salem, NC 27157-1015 Clinical Office: 336-716-8817 Academic Office: 336-716-4650 24-hour Physician’s Access Line (PAL ® ): 800-277-7654 WakeHealth.edu/Nephrology/Excellence

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Page 1: Nephrology Research & Clinical Update - Wake Forest ... grant committee and the Chronic Kidney Disease Advisory Group. He is a prior recipient of the NKF’s Donald W. Seldin Award

THE NEPHROLOGY SECTION AT WAKE FOREST BAPTIST MEDICAL CENTER had a banner year, receiving a total of four awards from the American Society of Nephrology (ASN), the American Society of Transplantation (AST) and the National Kidney Foundation (NKF) for excellence in the treatment of kidney disease and translational research. In addition, U.S. News & World Report’s 2012 – 2013 “Best Hospitals” ranked Wake Forest Baptist 12th in the nation for kidney disease care.

ASN John P. Peters AwardThomas D. DuBose Jr., MD,

chair of Internal Medicine, received the ASN John P. Peters Award in 2012, recognizing an individual who has made substantial research contributions to nephrology and sustained achievements in academic medicine, including clinical care, education and leadership. DuBose was president of the ASN in 2006 and served as a councilor and chair of the ASN grant committee and the Chronic Kidney Disease Advisory Group. He is a prior recipient of the NKF’s Donald W. Seldin Award.

DuBose has made substantive contributions to the pathophysiology of acid-base disorders through translational observations at the

Continued Excellence in Kidney Care and Research

(continued on back page)

Nephrology Research & Clinical Update

bench that have directly impacted patient care. His findings have facilitated a clearer understanding of the interrelationships of potassium and acid-base homeostasis and the pathophysiology of and diagnostic studies for distal renal tubular acidosis. He is a respected and highly regarded educator who is frequently invited to teach in a number of venues. DuBose is committed to teaching at the medical and graduate student, resident and fellow levels and has received numerous teaching awards as a model clinician and bedside educator.

AST Senior Achievement Award in Clinical Transplantation

Recognized for outstanding contributions to clinical transplantation, Patricia L. Adams, MD, received the 2012 Senior Achievement Award in Clinical Transplantation from the AST. A founding member of the organization, Adams served two terms as a board member. She is past president of the Southeastern Organ

Procurement Organization and the United Network for Organ Sharing.

Adams served 30 years as a faculty member at Wake Forest Baptist, where she was medical director of the kidney transplant program. During her tenure, she and her medical and surgical colleagues increased transplants performed from 20 per year to more than 200 at present.

NKF AwardsWake Forest Baptist nephrologists

received two awards from the NKF. Barry I. Freedman, MD, chief of the Section on Nephrology, was named the 2013 recipient of the Shaul G. Massry Distinguished Lecture Award, which honors Dr. Massry’s scientific achievements and contributions to the kidney health care community and the NKF. Michael V. Rocco, MD, received the Garabed Eknoyan Award, which recognizes an individual who has promoted the NKF’s mission to make lives better for people with kidney disease through exceptional

WAKE FOREST BAPTIST MEDICAL CENTER is a nationally recognized academic medical center and health system located in central North Carolina. Our clinical enterprise, Wake Forest Baptist Health, delivers advanced and compassionate care at our flagship hospital, as well as at Brenner Children’s Hospital, on our main campus in Winston-Salem, and through our affiliated hospitals, physicians and services. Wake Forest School of Medicine is our research and education arm, generating health discovery through groundbreaking research, and teaching tomorrow’s health care leaders.

Leading the Nation in Nephrology Education Continued Excellence in Kidney Care and Research (continued from cover)

contributions to the foundation’s key initiatives.

“These achievements further establish Drs. Freedman and Rocco as leading clinicians and researchers who are advancing the field of kidney care,” said DuBose. “Together with our Medical Center’s nephrology team, they are pioneering discoveries to identify new treatment modalities that will change the way medicine is practiced.”

Active Members of the Nephrology Community

Freedman chairs the National Institute of Diabetes and Digestive and Kidney Diseases “Family Investigation of Nephropathy and Diabetes” (FIND) Steering Committee and the Board of Directors at End-Stage Renal Disease (ESRD) Network 6. He has been the principal investigator of seven National Institutes of Health (NIH) grants since 1997 and published more than 290 peer-reviewed manuscripts and editorials.

His research focuses on identifying the genetic determinants of chronic kidney disease, diabetes mellitus, cardiovascular disease and bone disease, with a specific interest in ethnic disparities in kidney disease and atherosclerosis. His early studies detected marked familial clustering of disparate causes of ESRD in African American families, paving the way for

identification of nephropathy genetic risk variants, including apolipoprotein L1 (APOL1). He has collected DNA samples from more than 16,000 subjects with or at risk for nephropathy and has proven that mild-moderate essential hypertension does not commonly initiate nephropathy in African Americans. His current research aims to detect the pathogenetic mechanisms underlying APOL1-associated nephropathy and identify treatable modifiers to prevent this disease in African Americans.

Rocco serves as chair of the NKF Kidney Disease Outcomes Quality Initiative (KDOQI)™, which develops evidence-based clinical practice guidelines. He has also been vice-chair of KDOQITM and its Hypertension Work Group. He was a work group member of the Centers for Medicare & Medicaid Services Clinical Performance Measures Project in hemodialysis and peritoneal dialysis.

A leader in clinical trials in dialysis and chronic kidney disease, Rocco has been the principal investigator at Wake Forest for several NIH/National Institute of Diabetes and Digestive and Kidney Diseases trials, including the HEMO

(Hemodialysis) Study, the Acute Renal Failure Trial Network, the Dialysis Access Consortium, the Frequent Hemodialysis Network and the NIH/National Heart, Lung, and Blood Institute Systolic Blood Pressure Intervention Trial (SPRINT).

“Involvement in national kidney initiatives is a critical piece of our mission to provide the best in nephrology care,” said Rocco. “These networks give us valuable insight that translates into advances and improvements in patient care, education and research.”

THE NEPHROLOGY SECTION at Wake Forest Baptist Medical Center is on the forefront of educating the nation’s nephrology community about advances in kidney care. Under the direction of John M. Burkart, MD, corporate director of Wake Forest University Outpatient Dialysis Facilities, the Medical Center continues its outreach initiatives to improve kidney disease care.

Burkart has a long history with the International Society of Peritoneal Dialysis (ISPD), serving as council repre-sentative, treasurer and past president. He is a founding member of the Wake Forest Peritoneal Dialysis University (PDU), which has since evolved into the Home Dialysis University (HDU), an educational program co-sponsored by the ISPD for physicians and fellows. He currently serves as chair of the Wake Forest HDU, which has trained more than 2,750 physicians since 1999. Burkart is also involved in the ISPD’s efforts to expand the use of peritoneal dialysis globally. Representing the ISPD and small dialysis organizations, he has served as a member of the Centers for Medicare & Medicaid Services advisory council for dialysis reimbursement.

“With a career rich in clinical expertise, hands-on education and leadership, Dr. Burkart is a natural fit for teaching trainees and physicians across the country about home hemo and peritoneal dialysis,” said Barry I. Freedman, MD, chief of the Section on

Nephrology. “Under his direction, Wake Forest Baptist runs one of the largest academically owned-and-operated home dialysis programs in the nation.”

The Medical Center’s large dialysis program includes 16 outpatient dialysis facilities and an outpatient vascular access center. The outpatient dialysis facilities provide in-center hemodialysis to 1,300 patients and home dialysis services to 260 patients each year, offering conventional hemodialysis and short daily hemodialysis using the NxStage™ system and nocturnal home dialysis.

Burkart is also the chief medical officer of Health Systems Management (HSM), Inc., which operates and staffs 19 outpatient dialysis centers at Wake Forest Baptist and Emory Healthcare. “HSM is dedicated to helping academic medical centers efficiently run dialysis units, while giving physicians the autonomy needed to develop successful protocols and patient algorithms,” said Burkart. “Wake Forest’s extensive dialysis network gives us a unique viewpoint into how best to manage these facilities.”

An active educator, Burkart has been co-director of the American Society of Nephrology (ASN) Board Review Course and Update program for the past four years. He also served as a member of the education committee and co-director of the dialysis course at ASN national meetings. Burkart has been involved in initiatives of the National

Kidney Foundation (NKF) and the ISPD to establish guidelines for peritoneal dialysis that are intended to improve patient care standards.

“As the dialysis network and community continue to grow and change, it will be more important than ever to commit to efforts that foster better understanding of kidney disease, with the end goal of improved patient care,” said Burkart.

Michael V. Rocco, MD; Thomas D. DuBose Jr., MD; Barry I. Freedman, MD; and Patricia L. Adams, MD

John M. Burkart, MD

Medical Center BoulevardWinston-Salem, NC 27157-1015

Clinical Office: 336-716-8817Academic Office: 336-716-465024-hour Physician’s Access Line (PAL®): 800-277-7654

WakeHealth.edu/Nephrology/Excellence

Page 2: Nephrology Research & Clinical Update - Wake Forest ... grant committee and the Chronic Kidney Disease Advisory Group. He is a prior recipient of the NKF’s Donald W. Seldin Award

Section on Nephrology Clinical Faculty

James L. Pirkle Jr, MDAssistant Professor of Internal Medicine (Nephrology)

• Specialties: Peritoneal dialysis, clinical nephrology

• Member: American College of Physicians, American Society of Nephrology, National Kidney Foundation, Renal Physicians Association

Amudha Palanisamy, MDAssistant Professor of Internal Medicine (Nephrology)

• Specialties: Kidney and pancreas transplantation, live kidney donation, chronic kidney disease

• Research: Outcomes of kidney transplant recipients with preformed donor specific antibodies

Amber M. Reeves-Daniel, DOAssistant Professor of Internal Medicine (Nephrology); Medical Director, Living Donor Kidney Program; Medical Director, Pancreas Transplantation Program

• Specialties: Chronic kidney disease, dialysis, kidney and pancreas transplantation, live kidney donation, kidney disease

• Research: Outcomes following live kidney donation, ethnic and gender barriers to transplantation

• Best Doctors in America,® 2013

Anita M. Saran, MDAssistant Professor of Internal Medicine (Nephrology); Director, Continuous Renal Replacement Therapy Program

• Specialties: General nephrology, diabetic kidney disease

• Research: Diabetic kidney disease

Scott G. Satko, MDAssociate Professor of Internal Medicine (Nephrology); Director, Nephrology Fellowship Program

• Specialties: General nephrology, dialysis, hypertension, kidney transplantation

• Research: Screening for chronic kidney disease risk factors

• Fellow, American College of Physicians• Best Doctors in America,® 2009 – 2013

Isai Gopalakrishnan Bowline, MDAssistant Professor of Internal Medicine (Nephrology)

• Specialties: Clinical nephrology, hypertensive nephropathy (HTN), chronic kidney disease, glomerular diseases, peritoneal dialysis

• Best Doctors in America,® 2013

Amret T. Hawfield, MDAssistant Professor of Internal Medicine (Nephrology)

• Specialties: Chronic kidney disease, pregnancy and kidney function, hypertensive disorders of pregnancy, hypertension, dialysis and renal transplantation

• Research: Genetics of preeclampsia, NIH-funded SPRINT trial co-investigator studying hypertension management in chronic kidney disease

Mariana Murea, MDAssistant Professor of Internal Medicine (Nephrology)

• Specialties: Chronic kidney disease, end-stage renal disease and acute kidney injury

• Research: Genomic influence on survival differences among dialysis patients

John M. Burkart, MDProfessor of Internal Medicine (Nephrology); Corporate Director, Wake Forest University Outpatient Dialysis Facilities

• Chair, Home Dialysis University (HDU) sponsored by International Society for Peritoneal Dialysis and Wake Forest University (CME)

• Past president, International Society for Peritoneal Dialysis

• Co-Chair, National Kidney Foundation’s Disease Outcomes Quality Initiatives (DOQI) PD Adequacy Work Group

• Specialties: General nephrology, all aspects of peritoneal dialysis, clinical aspects of hemodialysis

• Research: Peritoneal dialysis, hemodialysis• Best Doctors in America,® 1998 – 2013

Michael V. Rocco, MD, MSCEVardaman M. Buckalew Jr., MD, Professor of Internal Medicine (Nephrology); Professor of Public Health Sciences

• Chair, National Kidney Foundation’s Kidney Disease Outcomes Quality Initiative (Vice Chair, 2003 – 2008)

• Specialties: Clinical nephrology, hemodialysis, peritoneal dialysis, chronic kidney disease, medical treatment of nephrolithiasis

• Research: More frequent hemodialysis therapies, hemodialysis vascular access, acute renal failure, progression of chronic kidney disease

• Fellow, American College of Physicians• Recipient of the National Kidney Foundation

Garabed Eknoyan Award, 2013• Best Doctors in America,® 2005 – 2013

Pirouz Daeihagh, MDAssociate Professor of Internal Medicine (Nephrology)

• Specialties: Clinical nephrology, dialysis, hypertension

• Research: Regenerative medicine, acute renal failure, renal replacment therapy in ICU

• Best Doctors in America,® 2011 – 2012

Shahriar Moossavi, MD, PhDAssociate Professor of Internal Medicine (Nephrology); Medical Director, Dialysis Access Group (DAG)

• Specialties: Interventional nephrology (dialysis vascular access), general nephrology

• Research: Dialysis vascular access, dialysis access surveillance, interventional procedures and outcomes

• Member: Medical Review Board of End-Stage Renal Disease (ESRD) Network 6

• Member: American Society of Transplantation Diversity and Minority Affairs Committee

• Best Doctors in America,® 2011 – 2013

Barry I. Freedman, MDJohn H. Felts III, MD, Professor of Internal Medicine (Nephrology); Chief, Section on Nephrology, Professor of Urology

• Chair, End-Stage Renal Disease (ESRD) Network 6

• Chair, Steering Committee, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK) Family Investigation of Nephropathy and Diabetes (FIND)

• Specialties: General nephrology, diabetic kidney disease• Research: Genetic factors in kidney and cardiovascular disease,

diabetes and hypertension• Fellow, American College of Physicians• Recipient of the National Kidney Foundation Shaul G. Massry

Distinguished Lecture Award, 2013 • Best Doctors in America,® 2007 – 2013

Thomas D. DuBose Jr., MDTinsley R. Harrison Professor and Chair of Internal Medicine

• Past president, American Society of Nephrology

• Master, American College of Physicians; Board of Regents, American College of Physicians, 2010 – 2013

• Specialties: Tubular disorders, difficult hypertension, chronic kidney disease,

diabetic nephropathy• Research: Regulation of renal transporters, potassium

balance, molecular description of transporters responsible for urinary acidification, expression and molecular regular of non-gastric H+, K+-ATPases in kidney and distal colon, aldosterone deficiency and excess, renal tubular acidosis, clinical acid-base and electrolyte disorders

• Honors: Recipient of the American Society of Nephrology John P. Peters Award; the National Kidney Foundation Donald W. Seldin Award; Distinguished Achievement Award, the American Heart Association, Kidney in Cardiovascular Disease Council, 2005

• Member: American Society for Clinical Investigation; Association of American Physicians; American Clinical and Climatological Association; American Heart Association; Association of Professors of Medicine

• Best Doctors in America,® 1996 – 2013

Anthony J. Bleyer, MD, MSProfessor of Internal Medicine (Nephrology)

• Specialties: International expert on inherited tubulo-interstitial kidney disease

• Research: Genetic causes of kidney disease, medullary cystic kidney disease (with partners at the NIH, identified mutation in the Tamm-Horsfall protein gene that causes medullary cystic kidney disease), cardiovascular disease in dialysis patients

• Published on sudden cardiac death in dialysis patients, use of non-calcium containing phosphate

binders in dialysis patients, and antimicrobial catheter lock solutions to prevent infection in dialysis patients

• Fellow, American College of Physicians; Member, American Society of Nephrology

• Best Doctors in America,® 2005 – 2013

Nephrology Research Breakthrough:

Discovering Genetic Determinants of Kidney DiseaseWAKE FOREST BAPTIST MEDICAL CENTER’S NEPHROLOGY RESEARCHERS continue to make groundbreaking advances in understanding the origins of inherited interstitial kidney disease. Working with a team of international researchers, Anthony J. Bleyer, MD, has uncovered new causes of hereditary kidney disease through his studies of gene mutation.

Bleyer initially found that mutations in the gene encoding Tamm-Horsfall protein, also called uromodulin (UMOD), were responsible for medullary cystic kidney disease Type 2 in a western North Carolina family with inherited kidney disease. Since then, working with Dr. Stanislav Kmoch at the First Faculty Medical School in Prague, he has identified mutations in several other genes causing inherited kidney disease.

“We are interested in studying all types of inherited kidney disorders,” said Bleyer. “We frequently find mutations in the gene encoding UMOD as the cause of disease. When this is not the case, we have the ability to find other causative genes even when the disorder has not been described in the literature.”

More than 350 families with inherited kidney disease from around the world have been referred to Bleyer. Patients typically suffer from bland urinary sediment, hematuria or renal tubular acidosis. Using genetic sequencing,

Bleyer identified the cause of disease in 200 of these families. He now performs whole exome sequencing to identify genetic determinants in patients with familial kidney disorders.

“This research provides clinical and scientific insight into disease causation that may alter the landscape of diagnosis, treatment and kidney donor selection,” said Barry I. Freedman, MD, chief of the Section on Nephrology.

Bleyer’s research group recently identified mutations in the gene encoding renin as a rare cause of inherited kidney disease. These patients also had anemia, a tendency toward acute kidney injury and hyperkalemia.

Treatment with fludrocortisone and a high sodium diet improved hyperkalemia in affected individuals, with the eventual goal of slowing the progression of kidney failure.

Bleyer is also part of a research group that identified the genetic cause of medullary cystic kidney disease Type 1 and seeks additional families with this condition to evaluate. “Together with my nephrology colleagues at Wake Forest Baptist and throughout the world, we have the opportunity to identify the causes of unknown inherited kidney disease in families that have experienced these diseases for generations without knowing the cause,” said Bleyer.

Clinical Office: 336-716-8817Academic Office: 336-716-465024-hour Physician’s Access Line (PAL®): 800-277-7654

WakeHealth.edu/Nephrology/ExcellencePatricia L. Adams, MDProfessor Emeritus, 1979 – 2011

Retired Professors

Vardaman M. Buckalew Jr., MDProfessor Emeritus, 1973 – 2011

Anthony J. Bleyer, MD, MS

For videos of our nephrologists discussing a variety of clinical and research topics, visit WakeHealth.edu/Nephrology/Excellence