The Brigham and Women’s Hospital’s PKD Clinical Network is a coordinated, multidisciplinary team of providers who specialize in polycystic kidney disease (PKD) and its associated conditions.
Brigham and Women’s Hospital is proud to have been designated as a Partner Clinic by the PKD Foundation’s Centers of Excellence Program.
Autosomal dominant polycystic kidney disease (ADPKD), the most common form of PKD, is an illness that affects approximately 1 in 1,000 individuals. ADPKD is a genetic disease, which means it is caused by an abnormality in a person’s DNA (also called a “mutation” or "variant"). A genetic variant is often passed along generations within a family, or may be new in an individual. DNA abnormalities can result in malfunctioning proteins, leading to problems in cells and organs.
PKD is often diagnosed when someone has many cysts in both kidneys. Over time, the cysts may compress the working parts of the kidney and lead to loss of kidney function. Kidney cysts may grow and cause problems due to their size or location and may need to be drained. The DNA abnormality that causes PKD can also affect cells in other organs, often causing liver cysts, and sometimes pancreatic cysts, leaky heart valves, and brain aneurysms.
To provide the best comprehensive care to individuals with PKD, we have assembled a team of specialists with expertise in managing PKD and its associated conditions.
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. BWH also has a world-renowned Interventional Nephrology program that prepares patients for both hemodialysis and peritoneal dialysis, and the Renal Division provides medical directorship for several local dialysis units. 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 ADPKD care, as well as to provide exceptional care to young family members.
Our program is part of the Mass General Brigham (MGB) Genetics and Genomic Medicine network, comprised of multidisciplinary genetics clinics and experts across BWH and MGH.
We are deeply involved in active research in kidney genetics and genomics, and our institution is home to the Harvard PKD Center for advanced research in polycystic kidney disease.
Nephrology – Kidney Medicine
Director of Kidney Genetics & PKD Clinic
Instructor in Medicine, Harvard Medical School
Clinical Focus:
Nephrology – Kidney Medicine
Kidney Genetics & PKD Clinic
Instructor in Medicine, Harvard Medical School
Clinical Focus:
Genetics
Kidney Genetics & PKD Clinic
Genetic Counselor, Harvard Medical School
Clinical Focus:
Kidney Transplant
Transplant Nephrologist
Instructor, Harvard Medical School
Clinical Focus:
Transplant Surgery
Clinical Director of Transplant Surgery
Assistant Professor, Harvard Medical School
Clinical Focus:
Urology
Minimally Invasive & Robotic Surgery
Associate Surgeon, Harvard Medical School
Clinical Focus:
Gastroenterology/Hepatology
Director of Hepatology
Associate Professor, Harvard Medical School
Clinical Focus:
Neurosurgery
Director of Cerebrovascular Surgery
Director of Bypass and Moyamoya Program
Professor of Neurosurgery, Harvard Medical School
Clinical Focus:
Liver Surgery
Associate Director, Hepatobiliary Surgery
Director, Minimally Invasive Gastric Surgery
Associate Professor, Harvard Medical School
Clinical Focus:
Interventional Radiology
Abdominal Imaging and Intervention
Instructor, Harvard Medical School
Clinical Focus:
Nutrition
Senior Registered Licensed Dietitian Nutritionist
Department of Nutrition
Clinical Focus:
Maternal-Fetal Medicine
High-risk Obstetrics
Instructor, Harvard Medical School
Clinical Focus:
Pain Medicine
Center for Pain Medicine
Physical Medicine and Rehabilitation
Instructor, Harvard Medical School
Clinical Focus:
Diagnosis of ADPKD may include:
Genetic testing may help identify the underlying cause of ADPKD. Genetic testing is performed on a blood or saliva sample and looks for 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 dysfunction of cells and organs.
Some examples of genes that are implicated in ADPKD include: PKD1, PKD2, IFT140, ALG9, GANAB, PKHD1, PRKCSH. There may be other kidney disorders that present with multiple/bilateral kidney cysts, such as Alport syndrome (genes COL4A3, COL4A4, COL4A5), congenital anomalies kidney/urinary tract (CAKUT) (genes HNF1B, PAX2, EYA1, GATA3, SALL1, PBX1), autosomal dominant tubulointerstitial kidney disease: (genes UMOD, REN, MUC1), tuberous sclerosis complex (genes TSC1, TSC2), among others.
ADPKD may affect different organs.
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