Kidney Genetics Center

Comprehensive Care for Genetic Kidney Conditions

The BIDMC Kidney Genetics Center provides patient-centered diagnosis and management of genetic kidney diseases. These types of kidney diseases may present as either a familial inherited condition or as a disorder of unexplained medical origin.

Patients may be referred by their primary care provider or nephrologist. Renal genetics physicians see referred patients for second-opinion consultation, co-management with primary nephrologists or in longitudinal follow up.

Conditions We Care For

Our team has expertise in a wide range of genetic disorders. We provide outpatient evaluation and counseling for patients and their families with known or suspected genetic conditions. The most common conditions we assess include:

Cystic kidney disease
o Polycystic kidney disease (Our PKD clinic is a PKD Foundation Center of Excellence)
Pediatric kidney disease in adulthood
o Congenital anomalies of kidney and urinary tract (CAKUT)
o Nephronophthisis and ciliopathy syndromes
o Genetic syndromes affecting the kidney
Autosomal-dominant tubulointerstitial kidney disease (ADTKD)
Inherited Glomerular/proteinuric diseases
Thrombotic microangiopathy and complement disorders
Kidney transplant recipient and donor genetic testing
o Recurrent kidney transplant disease testing
Genetic electrolyte and acid-base disorders
Undiagnosed kidney disease/Kidney disease of unknown origin

Services We Provide

Our team of nephrology genetics experts provides exceptional care that is personalized to each patient’s unique needs, which may include:

Primary genetic testing for known genetic kidney conditions
Second-opinion interpretation of genetic test results with uncertain implications
Investigational genetic testing, whole-exome sequencing and family pedigree analysis
Genetics-focused evaluation of kidney transplant donors and recipients
Interdisciplinary discussion and referrals to our subspecialty partners and experts in hepatology, neurosurgery, urology, endocrinology, cardiology and reproductive medicine

Frequently Asked Questions

What is a genetic kidney disease?

Genetic kidney diseases are caused by errors (mutations or pathogenic variants) in specific genes that affect the kidneys. These variants are often inherited, meaning they are passed down from parents to their children. For instance, in polycystic kidney disease, most patients have at least one first-degree relative who also has the same condition. In other cases, pathogenic variants can occur during the early stages of fetal development and remain unnoticed by patients and their families.

Who should be tested for a genetic kidney disease?

In patients who have a family history of kidney disease, genetic testing can help determine if their disease is genetically caused and if other family members are at risk and should also be tested. Other individuals may not have a family history of kidney problems and a cause of their kidney disease unable to be found. Others may have no apparent risk factors or identifiable reasons for their kidney condition, but genetic testing can provide valuable answers in these cases.

To make an appointment, please contact us by phone at 617-632-9880.

Meet the Team

Cristian Riella, MD

Nephrology

Peter G. Czarnecki, MD

Director, PKD/Kidney Genetics Clinic; Critical Care Medicine, Nephrology