Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the characteristics of not being able to feel any pain or temperature, and little or no sweating. It is inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene, but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform apoptosis. Apoptosis is a process by which neurons self-destruct.
Without these sensory neurons, people with CIPA cannot feel any pain or temperature. They also lose the nerves by their sweat glands, which leads to anhidrosis – lessened or no sweating. The purpose of this paper is to inform you about what CIPA is, what support there is for those who have it, and what research is going on about it. I chose to write about CIPA because I thought it was interesting and wanted to know more about it.
Congenital Insensitivity to Pain with Anhidrosis is a genetic disorder that is inherited by an autosomal recessive pattern. This means that both parents have a damaged NTRK1 gene, and they pass it on to their offspring. They themselves do not show any sign of CIPA, but this combination of the damaged genes activates it for their children and mutates eleven genes, which can lead to diseases. Since the NTRK1 gene is supposed to produce proteins needed for neurons (nerve cells) to develop and survive, but is damaged, it makes proteins that don’t transmit the signals (usually about temperature, pain, and touch).
CIPA is a disorder that consists of not being able to feel pain or temperature. Those with CIPA also experience anhidrosis, the ability to only sweat a little, or not at all. It occurs when the nerves by the sweat glands are few or nonexistent. Other symptoms of CIPA are slow recoveries from bone and skin injuries, osteomyelitis (bone infections; also called Charcot joints), hyperpyrexia (frequent and abnormally high body temperatures due to the body’s inability to give off heat by sweating), and seizures caused by high temperatures. Some characteristics of CIPA are hypotrichosis, where hair does not grow on parts of the scalp, hyperactivity, leathery skin on the palms of the hands, oddly shaped toenails or fingernails, emotional instability, and slight mental retardation.
Those with CIPA have many health risks. Because people with CIPA cannot feel pain,
they tend to hurt themselves severely and repeatedly. People with CIPA also tend to chew on their fingers, tongue, or lips, which sometimes leads to self-amputation of body parts. Those with CIPA also are in danger of temperature-related risks, such as hypothermia, heatstroke, burns, and frostbite.
Growing up with CIPA is difficult. Most guardians do not know that their child has CIPA until they notice unexplainable injuries, frequent fevers, or the absence of crying when there is an obvious cause to. Children with CIPA have to be checked...