The Kidney Genetics & PKD Clinic at Brigham and Women’s Hospital (BWH) is an outpatient nephrology clinic specializing in the care of individuals with genetic, cystic, familial and developmental kidney diseases.
Our clinic provides comprehensive diagnostic evaluation and clinical care to those with known or suspected genetic kidney diseases. A partial list of genetic kidney disorders is below. Our team consists of kidney physicians with extensive training in genetics and clinical nephrology, a genetic counselor, kidney nurses, and practice assistants. We work together to coordinate care, facilitate genetic testing, and provide detailed teaching to patients and families.
We are proud to have been designated as a Partner Clinic by the PKD Foundation’s Centers of Excellence Program. Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and occurs in about 1 in 1,000 individuals. In ADPKD, multiple fluid-filled bubbles, called cysts, develop in both kidneys and usually grow over time. The increase in cyst size and number may lead to enlargement of the kidneys and a slow decline in kidney function. ADPKD may also affect other organs, such as the liver, pancreas, heart and the brain vessels. In this setting, we created the BWH PKD Clinical Network, a multidisciplinary team of providers with expertise in ADPKD and its complications. This network includes liver specialists, urologists, neurosurgeons, interventional radiologists, and kidney nutritionists, with the goal of facilitating referrals and coordinating clinical decision-making.
We have also partnered with the Alport Syndrome Foundation to provide important patient-focused resources and support. Alport syndrome is the second most common cause of genetic kidney disease, and is caused by abnormalities in the structure of the kidney filtering membrane. This can lead to loss of blood and protein in the urine, and may result in slow decline in kidney function. Similar to ADPKD, Alport syndrome may involve other organs besides the kidneys, sometimes causing hearing loss, eye abnormalities, and, more rarely, aortic aneurysms.
Our clinic is part of the Mass General Brigham (MGB) Genetics and Genomic Medicine network which brings together multidisciplinary genetics clinics and experts across BWH and MGH.
We work very closely with the BWH Kidney Transplant Team for timely, safe and effective transplant planning for our patients who need renal replacement therapy and are suitable for a kidney transplant. The BWH Renal Division also has a world-renowned Interventional Nephrology program that prepares patients for both hemodialysis and peritoneal dialysis. The BWH Renal Division also provides medical directorship for several local dialysis units, providing continuity of kidney replacement therapy within BWH and the Mass General Brigham (MGB) healthcare system if needed. We have also established a close partnership with the Boston Children’s Hospital’s Kidney Genetics Clinic to facilitate the transition from pediatric to adult kidney care, as well as to provide exceptional care to young family members.
Finally, we are deeply involved in active research in kidney genetics and genomics, and our Renal Division is home to the Harvard PKD Center for advanced research in polycystic kidney disease.
Director, Kidney Genetics & PKD Clinic
Physician, Division of Renal Medicine, Brigham and Women's Hospital
Instructor, Harvard Medical School
Affiliated Research Faculty, Division of Nephrology, Boston Children's Hospital
Physician, Division of Renal Medicine, Brigham and Women's Hospital
Instructor, Harvard Medical School
Research Faculty, Division of Nephrology, Boston Children's Hospital
Certified Genetic Counselor
Master of Science in Biology
Master of Science in Genetic Counseling
Registered Staff Nurse
Diagnosis of a genetic kidney disorder may include:
Genetic testing in specific kidney disorders may help identify the underlying cause of disease. Genetic testing is performed on a blood or saliva sample and results in the identification of abnormalities in someone’s DNA, which may be causing or contributing to kidney disease.
Genes are segments of DNA with specific functions in our body, often giving instructions to our cells on how to make certain proteins. When genes contain an abnormality in their DNA sequence, this may lead to abnormal function of cells and organs.
Some examples of genes that where DNA abnormalities can cause kidney disease include:
The Kidney Genetics & PKD Clinic holds a weekly clinic on Mondays at the Brigham and Women’s Hospital’s Main Campus, located at 45 Francis St in Boston.
We accept referrals from PCPs, nephrology colleagues and other medical providers. We also welcome self-referrals from patients with personal or family history of genetic kidney disease.
Clinic address: 45 Francis Street, ASBII, 2nd floor, Boston, MA 02115
Clinic phone number: 617-732-6383
Referral code (internal): REF508 → select "Genetic Kidney Disease"
