Brigham PKD Clinical Network

About the Network

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.

PKD Foundation Partner Clinic SealBrigham 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.

Our Team

Ana Claudia Onuchic-Whitford, MD

Ana Claudia Onuchic-Whitford, MD

Nephrology – Kidney Medicine

Director of Kidney Genetics & PKD Clinic
Instructor in Medicine, Harvard Medical School

Clinical Focus:

  • PKD diagnosis, screening & therapy
  • Genetic testing and counseling
  • Chronic kidney disease management
  • Planning for transplant or dialysis

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Ronen Schneider, MD

Ronen Schneider, MD

Nephrology – Kidney Medicine

Kidney Genetics & PKD Clinic
Instructor in Medicine, Harvard Medical School

Clinical Focus:

  • PKD diagnosis, screening & therapy
  • Genetic testing and counseling
  • Chronic kidney disease management
  • Planning for transplant or dialysis

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Anna Verwillow, MS, CGC

Anna Verwillow, MS, CGC

Genetics

Kidney Genetics & PKD Clinic
Genetic Counselor, Harvard Medical School

Clinical Focus:

  • Genetic counseling
  • Discussion of genetic testing options
  • Detailed review of genetic test results

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Saif Alenizi, MD

Saif Alenizi, MD

Kidney Transplant

Transplant Nephrologist
Instructor, Harvard Medical School

Clinical Focus:

  • Kidney transplant evaluation
  • Post-transplant care

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Sayeed Malek, MD

Sayeed Malek, MD

Transplant Surgery

Clinical Director of Transplant Surgery
Assistant Professor, Harvard Medical School

Clinical Focus:

  • Kidney transplant evaluation
  • Kidney transplantation surgery
  • Kidney donor surgery

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Timothy Clinton, MD

Timothy Clinton, MD

Urology

Minimally Invasive & Robotic Surgery
Associate Surgeon, Harvard Medical School

Clinical Focus:

  • Surgical interventions in kidney cysts
  • Laparoscopic cyst decortication
  • Kidney stone removal
  • Native kidney nephrectomy

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Stephen Zucker, MD

Stephen Zucker, MD

Gastroenterology/Hepatology

Director of Hepatology
Associate Professor, Harvard Medical School

Clinical Focus:

  • Liver cysts and complications
  • Polycystic liver disease
  • Liver transplantation planning

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Rose Du, MD, PhD

Rose Du, MD, PhD

Neurosurgery

Director of Cerebrovascular Surgery
Director of Bypass and Moyamoya Program
Professor of Neurosurgery, Harvard Medical School

Clinical Focus:

  • Intracranial (brain) aneurysms
  • Endovascular and neurosurgical treatment of aneurysms

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Jiping Wang, MD, PhD

Jiping Wang, MD, PhD

Liver Surgery

Associate Director, Hepatobiliary Surgery
Director, Minimally Invasive Gastric Surgery
Associate Professor, Harvard Medical School

Clinical Focus:

  • Liver surgery in complicated polycystic liver disease
  • Laparoscopic fenestration of liver cysts

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Ravi Gottumakkala, MD

Ravi Gottumakkala, MD

Interventional Radiology

Abdominal Imaging and Intervention
Instructor, Harvard Medical School

Clinical Focus:

  • Symptomatic kidney cyst aspiration
  • Symptomatic liver cyst aspiration
  • Embolization and sclerotherapy

Marc O’Meara, RD, LDN, CDE

Marc O’Meara, RD, LDN, CDE

Nutrition

Senior Registered Licensed Dietitian Nutritionist
Department of Nutrition

Clinical Focus:

  • Nutrition in kidney disease
  • Weight management
  • Empowering patients to develop and follow a healthy lifestyle

Emily Reiff, MD

Emily Reiff, MD

Maternal Fetal Medicine

High-risk Obstetrics
Instructor, Harvard Medical School

Clinical Focus:

  • Pregnancy in setting of kidney disease
  • High-risk pregnancies
  • Hypertension management in pregnancy

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Erika Yih, MD

Erika Yih, MD

Pain Medicine

Center for Pain Medicine
Physical Medicine and Rehabilitation
Instructor, Harvard Medical School

Clinical Focus:

  • Evaluation of cause of chronic pain
  • Medical pain management
  • Methods to improve body mechanics
  • Nerve electrical stimulation or blockade

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Diagnosis of ADPKD

Diagnosis of ADPKD may include:

  • Detailed personal medical history
  • Family history, especially of family members with kidney abnormalities
  • Evaluation of blood and urine tests
  • Review of imaging of the kidneys / urinary system
  • Focused physical examination
  • Consideration of genetic testing (performed from routine blood draw)
  • Detailed genetic counseling
  • Referrals to other subspecialists to address possible non-kidney issues

Genes involved in ADPKD

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: Clinical Presentation

ADPKD may affect different organs.

  • The growth of many cysts (fluid-filled bubbles) in the kidneys may squeeze the normal kidney areas, and over time may lead to decline in kidney function.
  • Kidney cysts can occasionally rupture, bleed or become infected. Some very large cysts can cause pain or push on other organs. These may require drainage, or more rarely, surgery.
  • There is a higher risk of kidney stones and frequent urination in ADPKD. The risk of kidney cancer does not appear to be increased.
  • Kidney transplantation may be a good option for individuals who are nearing kidney failure.
  • Over 50% of people with ADPKD develop kidney failure requiring transplant or dialysis by age 75.
  • ADPKD is caused by an abnormality in someone’s DNA (called “mutations”), most commonly in the genes PKD1 or PKD2. Less common genes include IFT140, GANAB, ALG9.
  • Most individuals with ADPKD have a mutation that runs in the family or, in some individuals, a new mutation.
  • However, up to 25% of people with ADPKD do not have a known family history of this disease.
  • Clinical genetic testing is available and may find the DNA change that causes someone’s ADPKD. This may help guide medical tests and identify kidney transplant donors in the family.
  • As an autosomal dominant disease, males and females are at equally affected, and the chance of passing ADPKD from a parent to a child is 50%.
  • Over 80% of individuals with ADPKD will have liver cysts.
  • Some people have more liver cysts than kidney cysts.
  • Women are more likely to have larger liver cysts, and liver cysts at a younger age.
  • Liver cysts may grow faster when exposed to female hormones such as estrogen.
  • There are medication and surgery options to treat problematic liver cysts.
  • The risk of a brain aneurysm in individuals with ADPKD is 4 times higher than in the general population (8-12% in ADPKD, 2-3% in the general population).
  • Risk is higher for those that have a family history of a brain aneurysm or bleed.
  • Brain aneurysms can be detected early with a screening MRI Angio of the brain.
  • Aneurysms can be monitored with imaging or treated with specialized techniques.
  • High blood pressure (hypertension) is common in ADPKD.
  • Careful blood pressure control is very important to decrease the risk of kidney failure and heart or vascular complications in ADPKD.
  • Heart valve abnormalities can occur in people with ADPKD – however, in most of these cases, there are no symptoms or risks.
  • The most common heart valve abnormality is mild prolapse of the mitral valve.
  • Enlarged polycystic kidneys and/or liver may push on the stomach and cause reflux. They may also cause the sensation of being full after eating a small amount (“early satiety”).
  • Diverticulosis (small outpouchings of the intestine) can be seen more frequently in ADPKD. If an outpouching becomes infected, this can result in diverticulitis, which is usually treated with antibiotics.
  • Small benign cysts in the pancreas may be seen in individuals with ADPKD.

Contact Information

Dr. Onuchic-Whitford, Dr. Schneider, Anna Verwillow CGC: (617) 732-6383

Dr. Muhsin: (617) 732-6383

Dr. Malek: (617) 732-6383

Dr. Clinton: (617) 278-0950

Dr. Zucker: (617) 732-6389

Dr. Du: (617) 525-8132

Dr. Wang: (617) 525-6563

Dr. Gottumakkala: (617) 732-6248

Marc O’Meara, RD: (617) 732-6054

Dr. Reiff: (617) 732-4840

Dr. Yih: (617) 952-5299

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