In most patients, the condition is caused by a transient relaxation of the sphincter that keeps the lower end of the esophagus closed when a person is not swallowing food or liquids. It is the acid refluxing into the esophagus that produces the symptoms and potentially harmful effects of the disease. Although most people suffer from occasional reflux, the condition is considered chronic when it is severe enough to impact a person s life or permanently damage esophageal tissue. Evaluating both affected and unaffected family members, a thorough medical history was recorded for each individual, including questions relative to signs and symptoms of GERD and its associated manifestations. In mapping the gene for severe pediatric GERD to chromosome 13q14, the researchers have essentially found the very precise region of the vast human genome where the gene exists.
Efforts are now underway to identify the gene itself.
Once that is accomplished, Ehrlich said, the next step is to develop a better, less invasive method of diagnosing the disease, such as a blood test. We are just now beginning to understand the true implications of GERD in children and the insight is harrowing. The ultimate goal of this research is to determine the physiological processes that underlie this disease and develop more effective therapies based on that knowledge. According to Dr. Post, GERD is a major disease of childhood that affects not only the gastrointestinal tract but the upper and lower respiratory system as well. Among infants, GERD can also result in a failure to thrive due to insufficient caloric absorption and may actually be fatal secondary to aspiration of regurgitated stomach contents.