INHERITED KIDNEY DISEASE
By Anthony Bleyer, M.D., a professor of kidney disease at Wake Forest University Baptist Medicine. Dr. Bleyer focuses his research on inherited kidney disease.
The goals of this article are:
(1) To provide information for families who have inherited kidney disease but are unsure of the diagnosis or why they have it.
(2) To do research on two types of inherited kidney disease.
What are the characteristics of the disease we study?
(1) Persons with the disease have a 50% chance of inheriting the disease from their parents. For this reason, if a person has the disease, about half his brothers and sisters are likely to suffer from the disease. Also, one of his parents, and several brothers or sisters of the parent often have the disease.
(2) The disease results in a slow loss of kidney function over time. Family members usually need a kidney transplant or go on dialysis in their 30's, 40's, or 50's.
(3) Some of families also suffer from a lot of gout.
(4) If an ultrasound is done of the kidneys, it usually shows them to be normal or small. Sometimes patients may have a few cysts. They do NOT have polycystic kidney disease.
(5) Kidney biopsy may reveal something called "glomerulosclerosis" or "tubular atrophy."
What are the diseases called?
Many times, even a kidney doctor will be unfamiliar with these diseases. Therefore, what the disease is called can vary quite a bit!
Families who have this inherited kidney disease and also suffer from gout usually have a condition referred to by one of many names:
Familial juvenile hyperuricemic nephropathy
Medullary cystic kidney disease type 2
Uromodulin associated kidney disease
Inherited interstitial nephritis.
For families that do not suffer from gout, the disease is called:
Medullary cystic kidney disease type 1
Inherited interstitial nephritis
The research that we are doing involves finding a genetic (DNA) cause for inherited kidney disease without gout.
We have found the gene for individuals with inherited kidney disease with gout, and now we are doing a research study to see how the gene mutation causes kidney function to worsen.
If you or a family member have an inherited kidney disease like the ones describe in this article, or if you do not know what type of disease you have, we would like to hear from you.
Please email Dr. Bleyer at ableyer@wfubmc.edu
If you are interested in the research study, please click on this link: Research Study on Inherited Kidney Disease with Gout
Wake Forest University Baptist Medical Center Research Study
Physicians in the Section on Nephrology are currently conducting two types of research studies.
(1) For families with inherited kidney disease with gout (also known as familial juvenile hyperuricemic nephropathy or uromodulin associated kidney disease or medullary cystic kidney disease type 2), we are examining the rate of loss of kidney function and what factors are associated with this.
(2) For families with inherited kidney disease without gout (also known as inherited interstitial kidney disease), we are trying to determine the genetic (DNA) cause of the disease.
If you are interested in these research studies, please email Dr. Bleyer at ableyer@wfubmc.edu or call/write:
Anthony J. Bleyer, M.D., M.S.
Section on Nephrology
Wake Forest University School of Medicine
Medical Center Blvd.
Winston Salem, NC 27157
336-716-4513
If you have concerns about research involving this study, please contact:
Institutional Review Board
Wake Forest University School of Medicine
Medical Center Blvd.
Winston Salem, NC 27157
336-716-4548