Notes and emendations (August 31, 1999) by Webmaster Curtis L. Atkin are [bracketed].
The annual meeting of the HNF was held on March 10, 1995, at the University Research Park in Salt Lake City, Utah.
A grant of $1,000.00 was given for more research to the HN Alport Study.
David Barker, Ph.D., reported on the renewal of the NIH grant for hereditary nephritis laboratory research. The original three year grant was approved in 1992. The chances of having such a grant approved and funded are only 10% - 15% as only one in seven are accepted. This grant was both approved and funded for an additional four years and will help with the continuation of research for hereditary nephritis.
Officers and Board of Trustees were ...[elected]....
Pamela R. Fain, Ph.D., Research Assistant Professor, has left the University of Utah to take a position at the University of Colorado Health Sciences Center in Denver, Colorado.
Dr. Fain is a statistical geneticist who has participated in the Alport research for the past eight years, and has made valuable contributions to the body of knowledge regarding Alport's as well as other inherited diseases. She has collaborated on seven articles specifically concerning Alport syndrome.
It is hoped that she may continue to have some input to the continuing study of Alport syndrome.
Those of us who have worked with Dr. Fain will miss her and wish her much success in her new endeavor.
We have now completed transferring member information from paper records into our database. Please let us know if you would like a detailed report of your membership to review. We realize that the donation records we have on paper are not 100% accurate, and will kindly correct any errors which we are made aware of.
One of the advantages of having this data in a database is the ability to easily analyze specific fund raising efforts and their effectiveness. Which in turn will enable us to direct our efforts to the more productive areas. Another is the reduced time in preparing and maintaining mailing information for this newsletter.
We are still developing the automated processes of maintaining the member information. The new "Membership Renewal Statement", which was sent to everyone in February, is one of the ways in which we hope to help make it easier to remember to keep your membership current. As we refine these processes, your ideas and suggestions are welcome and encouraged. Thank you for your support, understanding, and patience.
[The major Internet resource for IgA Nephropathy, also known as Berger Disease, is the IgA Nephropathy Home Page by scientist/kidney patient Russ George. The following article is reprinted with the permission of The U.S. National Kidney Foundation]
In many parts of the world, IgA Nephropathy is the most common form of glomerulonephritis - a disease that damages the tiny filtering units of the kidney, called glomeruli. The damage caused by IgA Nephropathy results from abnormal deposits of a protein called "IgA" in the glomeruli.
One of the kidney's most important jobs is to filter toxic waste products from the blood, and the glomeruli play a key role in this process. As more glomeruli are damaged by the IgA protein, the kidney progressively loses its ability to clear wastes from the body. In some patients with IgA Nephropathy, this loss of kidney function progresses to chronic kidney failure, which requires dialysis treatment or a kidney transplant to maintain life.
IgA Nephropathy is sometimes called "Berger's Disease," because a French physician named Berger was one of the first to describe the disease.
The most common sign is blood in the urine. The amount of blood may be so small that it is only visible with the aid of a microscope. Another common sign is protein in the urine, which may be associated with swelling of the feet.
As more loss of kidney function occurs, symptoms may include: pain in the back below the ribs, increased need to urinate especially at night, fatigue, nausea, swelling of hands and feet, and high blood pressure.
The causes of IgA Nephroptathy are not known exactly. The disease seems to cluster in certain families and in certain areas of the world. In addition, it is rare in blacks. These facts suggest that genetic influences may play a role in the development of the disease.
The presence of blood and/or protein in the urine may suggest a diagnosis of IgA Nephropathy. However, to confirm this diagnosis, it is necessary to remove a small piece of tissue from the kidney (biopsy) and examine it microscopically for the presence of the characteristic IgA deposits in the glomeruli.
To date, no specific treatment has been proven to be effective. Efforts to slow the progression of kidney damage may include: limiting the amount of protein in the diet and careful control of high blood pressure if present. For patients who develop progressive kidney failure, treatment may consist of dialysis or a kidney transplant. The success rate of transplants is good in these patients. Even though the IgA deposits reappear in the transplanted kidney in about half the patients within one year after the operation, the signs and symptoms of the disease remain mild. Loss of a transplanted kidney to recurrent IgA Nephropathy is uncommon. The milder form of the disease seen after transplantation may be due to the use of anti-rejection drugs such as cyclosporine.
About 20-40 percent of the patients develop end stage kidney failure about 20 years after the disease becomes apparent. Those patients who have an increased level of creatinine in their blood at the time of their diagnosis are more likely to develop chronic kidney failure. It is harder to predict which of the patients who have normal levels of creatinine at the time of diagnosis will develop kidney failure. In general, a poor prognosis is expected for those patients who have high blood pressure, a loss of more than 2 grams of protein a day in their urine, and a significant amount of damage present in their biopsy specimen.
Several centers in the United States and other countries are studying IgA Nephropathy. Researchers are investigating the chemical composition of the IgA protein, the rate of production of this protein, possible genetic influences on the expression of the disease, analysis of the long-term clinical outcome, and development of animal models to study the disease. Cooperative treatment trials on the effectiveness of the drug, prednisone, and diets rich in fish oils in the treatment of IgA Nephropathy have begun in the United States. However, these studies have not been completed as yet, and these treatments are considered experimental.
Epstein et al. (1972) described 2 unrelated families, each with 2 members with this combination. In 1 family, a third member, a young child, had the platelet disorder and a mild hearing loss. Except for the greater severity in females, the renal disease was indistinguishable from that of Alport syndrome. Likewise, the high frequency sensorineural hearing loss was similar to that of the Alport syndrome. Thrombocytopenia was present with giant platelets showing abnormal ultrastructure and defective adherence to glass. Bleeding time was prolonged. Aggregation of platelets in response to collagen and epinephrine and release of factor III were impaired. The release of nucleotide after exposure to collagen was abnormally low. Inheritance was clearly dominant but no male-to-male transmission was noted to corroborate autosomal inheritance. The fact that females were as severely affected as males made X-linked dominance unlikely, however. Furthermore, no male-to-male transmission occurred in the family reported by Eckstein et al. (1975).