A research group led by Professor Akio Koizumi of the Graduate School of Medicine, Kyoto University and Assistant Professor Atsuko Noguchi of the Graduate School of Medicine, Akita University discovered a cold-induced joint pain attack specific to infants, and found "pediatric limb pain attacks". Named.It was published in the US open access scientific journal "PLOS ONE".
In Japan, a child who is in a bad mood and often cries is said to have a strong cry, but he did not know why he cried.As a result of continuing the investigation from 2012, the research group found that some of the so-called "strong" children were crying due to "pain in the extremities" caused by cold, tiredness, and bad weather.It was also found that the seizures improved after puberty and that many relatives experienced the same symptoms.
Next, when genetic analysis was performed on the children who participated in the survey and their families, mutations in the genes that make sodium channels involved in pain were commonly found in children who complained of these symptoms.Furthermore, in order to investigate whether this mutation is related to pain, we created model mice and evaluated how they felt pain. As a result, they were more likely to feel pain than normal mice to hot / cold stimuli like patients. It is said that it was.In other words, the discovered mutations over-excite the pain-transmitting nerves and cause pain.This result led the group to name the attack "Children's Limb Pain Attack".Since the cause has also been identified, genetic diagnosis will be possible in the future.
As of 2016, 23 cases of this disease have been found nationwide, but it is highly possible that they have been overlooked so far, and the number of potential patients is expected to be large.In the future, it is said that it will proceed with accurate diagnosis and fact-finding by genetic testing, and at the same time, elucidate the pathological condition with the aim of developing a treatment method.Furthermore, it is hoped that it will contribute to the development of analgesics from a new perspective by clarifying the relationship with environmental factors such as "pain becomes worse when it gets cold" and "pain subsides when it grows up".
