| Health / Health News |
Researchers uncover genes linked to common recurrent fever in children
Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children.
Children with PFAPA syndrome experience recurrent fever, painful canker sores, sore throat and inflamed lymph nodes. Photo: Ernesto del Aguila III/NHGRI
Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
The findings were made possible by the realization of commonalities with other chronic inflammatory conditions that also involved sores on the body, including the common canker sore.
In 1987, researchers first described a syndrome seen in 12 children, which was marked by recurrent fever, painful canker sores, sore throat and inflamed lymph nodes.
The condition starts at an early age, between the ages of 1 and 5. The first sign is fever, accompanied by sore throat with redness and other symptoms.
“PFAPA syndrome is the most periodic of periodic fevers, with many children having an episode every month lasting three to five days,” said Kalpana Manthiram, M.D., Clinical Fellow at NHGRI.
Because of the nature of the disease, researchers have long thought that answers may lie in genomics. After ruling out the possibility that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are involved.
Dr. Manthiram discovered that many cases run in families. Parents and siblings of patients tend to have frequently inflamed tonsils and canker sores, compared to relatives of people without the illness.
To see which genes (if any) were involved in the disease, Dr. Manthiram and her team searched for commonalities in symptoms between PFAPA syndrome and two other inflammatory diseases: Behçet’s disease, which causes inflammation of blood vessels, and canker sores.
Each illness presented itself with one common symptom – canker sores.
The group looked into whether the gene variants known to be associated with those diseases were also present in people with PFAPA syndrome by comparing patients with the disorder from European-American and Turkish ancestries with the general U.S. population.
They performed more detailed analyses of six genes that are strongly linked to Behçet’s disease and canker sores.
This spectrum is clinically important because a number of patients may have symptoms that are shared between the three diseases, which could make it difficult for doctors to isolate their specific condition.
According to the researchers, those patients would be better served if they were referred to having Behçet’s spectrum disorders.
Ultimately, the researchers hope that such studies on PFAPA syndrome will yield new treatment options, some of which could be drugs that are known to be effective in reducing inflammatory molecules such as IL12. (National Institutes of Health)
YOU MAY ALSO LIKE
