9Oct




Researchers have zeroed in on a possible genetic cause for a common ailment in children linked to recurring respiratory illnesses and even some misdiagnosed cases of crib death.


The study was small and the findings preliminary, but they could eventually lead to better ways to diagnose and treat gastroesophageal reflux disease, the authors and others said.


Using genetic mapping techniques in research on five families with affected children, investigators found a marker suggesting that there is a gene that causes at least one form of the disease.


While they didn’t find an actual gene, they found evidence that one exists on chromosome 13, one of 46 chromosomes that carry genetic information within each human cell.


The disease affects an estimated 10 million children each year, though the authors said it is vastly underdiagnosed. It causes stomach acid to back up into the esophagus and usually results from a relaxation of the valve-like muscle that keeps the lower end of the esophagus closed after eating or drinking.


In infants and children, the main symptom is spitting up or coughing, and most outgrow it. But because symptoms are innocuous, it often goes undetected and is believed to be a cause of recurring colds and upper respiratory infections. Experts also think that it is a cause of some deaths mistakenly attributed to Sudden Infant Death Syndrome.


Heartburn is the major symptom in adults. If untreated, it can cause constant irritation to the throat that can lead to esophageal cancer.


Researchers don’t know if the disease in children is linked to the adult ailment, which affects more than 40 million nationwide.


Invasive tests are needed to diagnose the ailment, which can be treated with diet, drugs and sometimes surgery. If a culprit gene ultimately is found, diagnosis could be as easy as a simple blood test, said Dr. Christopher Post, a co-author.


The authors, led by a team of researchers at Allegheny General Hospital in Pittsburgh, called the finding a possible breakthrough. Others not involved, while more cautious, generally agreed.


Previous research has suggested that gastroesophageal reflux disease is inherited.


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