The Laboratory of Inherited Kidney Disease

Martin R. Pollak, MD

About Us

We are a group of physicans and scientists who are trying to learn more about the cause of kidney disease in patients and families by studying genetics. There are two categories of kidney disease that we are currently investigating. The first is nephrotic syndrome (particularly, but not limited to, one subset of nephrotic syndrome that on biopsy is called FSGS) as described below. The other category is kidney disease due to events during early development called congenital anomalies of the kidney and urinary tract (or CAKUT). In both of these categories of kidney disease we believe that DNA (genes) plays an important role. Since DNA serves as the instructions for the body to carry out its functions, we hope to learn more about how changes in DNA can contribute to the cause of these conditions.

Nephrotic Syndrome and FSGS Research

Focal and segmental glomerulosclerosis (FSGS), also called focal sclerosis for short, is a common form of kidney disease defined by a particular pattern seen when a kidney biopsy specimen is examined under the microscope. Patients with this condition have increased amounts of protein in their urine, sometimes greatly increased. When urine protein excretion is quite high, a patient may have what nephrologists refer to as the "nephrotic syndrome" which is characterized by low protein levels in the blood, and edema, or swelling, which is most evident in the feet and legs. People with these conditions often, but not always, develop some degree of kidney failure, which may lead to the need for dialysis or kidney transplantation.

The Laboratory of Inherited Kidney Disease at Brigham and Women's Hospital and Harvard Medical School in Boston, Massachusetts, directed by Dr. Martin Pollak, seeks to identify genes that underlie the development of FSGS. We have identified the first of these genes, FSGS-1, or ACTN4, a gene which encodes a protein which seems to be important in the structure in the cytoskeleton of certain kidney cells. We are now trying to find other FSGS genes and understand exactly how defects in this first FSGS gene lead to kidney disease.

CAKUT Research

In collaboration with the Urology and Nephrology Departments of Childrens Hospital Boston, we are now enrolling subjects with kidney and/or urinary tract anomalies in order to identify the cause of these conditions. Renal and urinary tract malformations are common causes of renal failure in infants and young children. We are studying a wide range of these anomalies including horseshoe kidney, renal agenesis, multiple kidneys, hypoplastic kidneys, dysplastic kidneys, hydroureter with small kidney, double and ectopic ureters. By studying DNA we hope to identify genes that may be involved in the development of these kidney and urinary tract issues.

Healthy Volunteers

Dr. Martin Pollak's Laboratory in the Renal Division at Brigham and Women's Hospital is looking for healthy adult volunteers to take part in a research study. Taking part would include a short questionnaire and a one-time donation of four teaspoonful (20ml) of blood from a vein. Please contact Andrea at auscinski@rics.bwh.harvard.edu or 617-525-5885 for more information.