Familial Focal Segmental Glomerulosclerosis

Overview

Mayo Clinic is one of the most experienced centers in the world in caring for patients with familial focal segmental glomerulosclerosis (FSGS). Mayo Clinic has one of the world's largest groups of practicing nephrologists (kidney specialists). They work together with transplant specialists and other experts to develop the best treatment plan for each patient. Mayo Clinic in Rochester operates a Renal Genetics Clinic, which offers diagnosis and treatment for patients and family members with hereditary FSGS.

Diagnosis

People affected with hereditary familial focal segmental glomerulosclerosis may have no symptoms until the kidneys have markedly reduced function. Signs and symptoms of the disease may include foamy urine and edema (swelling) of the legs and other parts of the body. People who have FSGS may have laboratory findings of increased protein in the urine (proteinuria) — called nephrotic syndrome when severe — and an elevation of the blood creatinine level, which is a marker for kidney dysfunction. In some cases it is necessary to biopsy the kidneys to confirm a diagnosis of FSGS.

Treatment Options

Treatment of familial FSGS varies, depending on the patient's age, symptoms and laboratory findings. While no cure exists, medical care can potentially improve prognosis and life span. Learn more about Familial focal segmental glomerulosclerosis treatment options.

• Treatment in Arizona
• Treatment in Florida
• Treatment in Minnesota

About Focal Segmental Glomerulosclerosis

Focal segmental glomerulosclerosis (FSGS) is a kidney disease that results from scarring of the glomeruli, the tiny structures within the kidney that filter impurities from the blood to create urine. These scars are visible under the microscope in tissue removed from the kidney by biopsy. As these scars accumulate, kidney function worsens and the kidneys can eventually fail.

Enlarge

FSGS has numerous types. Familial FSGS is a hereditary form caused by a number of gene mutations. Familial FSGS can occur when an abnormal gene is inherited from an affected mother or father (dominant inheritance) or can occur in a pattern passed only through mothers (maternal inheritance). Familial FSGS also can occur when neither parent has the disease, but each carries one copy of an abnormal gene that can be passed on to the next generation in a "double dose" (recessive inheritance). Therefore, the absence of disease in other family members does not exclude the possibility that the disease may be inherited.