What is nephrotic syndrome?

Nephrotic Syndrome is a disease that allows protein, which is normally in the blood stream to “leak” into the urine. Excessive protein leakage often leads to swelling or edema (fluid leakage into body tissue). Additionally, positive proteins, which would normally be circulated through the blood stream to support other bodily functions, do not make it through to their final destination. Besides the swelling /edema mentioned above, other conditions which may arise include immuno-suppression, anemia, decreased thyroid activity (slowing development), and high blood pressure.

In most cases a specific cause for nephrotic syndrome is not known. In some instances the loss of protein in the urine is a result of a specific disease such as lupus, past infections, certain drugs or toxins, or allergic reactions. In other instances the disease results from a genetic disorder usually developed during pregnancy. These cases are commonly referred to as congenital nephrotic syndrome. While non-congenital nephrotic syndrome can be treated through the use of medication, diuretics and a low sodium diet, there is no guaranty that the disease will completely disappear. However, the non-congenital variety usually does not result in any structural damage to the kidney and often remedies itself over time. Congenital nephrotic syndrome is quite the opposite, and in 99% of the cases will result in the need for dialysis and/or a kidney transplant. Gabrielle Santiago was positively diagnosed with congenital nephrotic syndrome this past August.

Where We Are Now:
For the past 12 months, Gabrielle (now 14 months old) has been on a strict diet in order to regulate and minimize fluid build up within the body’s tissues. In addition to the strict dietary regimen, she is required to take 8 medications daily to treat anemia, decreased thyroid activity, and control the potential for infection due to a suppressed immune system. Her parents and an in-house nursing service administer these treatments at home. Despite this strict regimen, Gabrielle’s kidney function continues to steadily decline and continues to be at risk to infection as well as factors inhibiting physical development. Despite all the problems she has encountered, Gabrielle has kept up with most aspects of normal development to date.

Where We Are Going:
Gabrielle’s current kidney function is estimated to be at around 40% and will continue its downward trend toward End State Renal Disease (less than 10% kidney function). Upon reaching ESRD, Gabrielle’s kidneys will be removed and peritoneal dialysis will be initiated to assume kidney function until such time the transplant procedure can occur. Blood analysis of 5 family members is underway in hope of finding a suitable donor. Once identified, Gabrielle’s condition will continue to be monitored in anticipation of performing the transplant procedure some time during the summer of 2000.

Boston Children’s Hospital Renal Transplant Facility has been selected to handle the transplant surgery and post operative care in coordination with the family’s Pediatric Nephrologist, Dr.Robert Weiss, MD of Westchester County Medical Center. Such care will include anti rejection drug therapy for the remainder of her life as well as frequent follow up visits to Boston Children’s Hospital during the 12-month period following her transplant. Eventually, case management will be administered out of Westchester County Medical Center.

It is important to remember that transplantation is not a cure, but a treatment. Although there are no guarantees, significant advancements in renal transplantation and the support of family and friends has been a source of inspiration and strength. Your support will strengthen our effort to provide Gabrielle with a better quality of life.