Alport Syndrome is a genetically-inherited kidney disease first categorized in 1927 by Dr. Cecil Alport. Since his initial discovery many individuals and families have been diagnosed with this disease. However, despite much research, little progress has been made towards a management or cure. The problem lies in Alport Syndrome’s origins, deep within a person’s genetic code. Gene therapy, a science still in its infancy, holds out the best hope for Alport sufferers to find a cure.
Alport Syndrome, simply put, is an impairment of a set of genes on the X chromosome that causes the basic membrane of the kidney’s filtering units to not mature over a person’s lifetime. That membrane thickens, warps and becomes too porous, allowing blood, proteins and other important elements to leak into the urine and out of the body. Bloody urine is usually the first sign of Alport Syndrome. This same mechanism can also cause permanent hearing loss and some eye damage, again happening as the person matures, showing up in their 20’s or 30’s.
Since the disease is located on the X of the sexuality-determining XY chromosome pair, it is a family problem, passed down through the mother, who contributes the X chromosome. It most harshly affects men, who have only one X to draw on, as opposed to women, who have XX sex chromosomes – essentially, a spare. Men with Alport’s suffer serious problems leading to kidney failure and a shortened life expectancy; women may get full-blown Alport’s, but often escape with only pink urine and high blood pressure.
Treatment for Alport Syndrome is minimal at this time. Some medications have been identified or are being researched to help reduce the severity of symptoms, or to interrupt the cycle of membrane destruction as a person matures, with mixed success. When an Alport sufferer’s kidneys fail he becomes a candidate for transplantation, which often yields very good results – he is otherwise a perfectly healthy individual, well able to take a major operation. Gene therapy for Alport Syndrome is the biggest hope for a real cure, but that may be years away. Researchers have isolated the genes and gene variants responsible for causing the disease, but fixing a problem that lives in every cell of the body is no small task. Laboratory experiments so far have yielded some slight promise, but nothing definitive.
Genetic research for the treatment of disease is one of science’s hottest fields right now, with billions of dollars and serious intelligence being focused on this area of medicine. And there is nothing researchers love more than a good challenge. Alport Syndrome certainly gives them one, a challenge that will one day be successfully overcome.