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Congenital insensitivity to pain with anhidrosis (CIPA) also known as hereditary sensory and autonomic neuropathy type IV, is an inherited disease where there is an inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA usually appear at birth or during infancy. The inability to feel pain and temperature often leads to repeated, severe injuries and unintentional self-injury is common. People with CIPA may also heal slowly from skin and bone injuries, which can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints. Absent sweating can cause recurrent, high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). Other features may include dental caries, difficulty controlling urine and defecating (urine and fecal incontinence), behavioral or emotional problems and intellectual disability. CIPA is caused by changes (mutations) in the NTRK1 gene. Inheritance is autosomal recessive. There is still no cure for CIPA. Treatment is aimed at controlling body temperature, preventing self-injury, and treating orthopedic problems, as soon as possible. It is very important to control the body temperature during surgery.
Source: GARD Last updated on 05-01-20
CIPA is caused by mutations in the NTRK1 gene, which gives the body instructions to make a protein that is important for the development and survival of nerve cells - especially those that carry information about pain, temperature, and touch (sensory neurons). The NTRK1 protein is found on the surface of cells, particularly sensory neurons, and is needed to transmit signals for cell growth and survival. A mutation in the NTRK1 gene can cause it to function abnormally, keeping neurons from receiving proper signaling and causing them to die as a result. This loss of sensory neurons and nerves leading to sweat glands leads to the signs and symptoms of CIPA.
Studies of brain belonging to people with CIPA have shown abnormalities in the parts of the brain responsible for pain and temperature sensations such as absence of small neurons and fibers in the dorsal ganglia and dorsal roots that contains the cell bodies of sensory neurons that bring information from the periphery to the spinal cord, absence of Lissauer’s tract, made up of fibers convey primarily pain, temperature and light touch information, and reduction in size of the spinal tract of the trigeminal nerve that receives information about deep/crude touch, pain, and temperature from the same side of the face.
Last updated on 05-01-20
The long-term outlook (prognosis) for the hereditary sensory and autonomic neuropathy disorders is improving, and they are no longer considered only as diseases of childhood. The prognosis appears to depend on the degree of severity in each person, and the ability to control the complications of the disease. However, with careful medical attention, people with CIPA can live into adulthood.
The main problems are related to the high temperature and the bone problems that are present in CIPA. The disease may be fatal in the first years of life if hyperpyrexia (very high fever) is not properly managed, and it is the most frequently reported cause of death.
Orthopedic problems are also one of the most characteristic and serious complications of CIPA. In older children, osteomyelitis and bone and/or joint deformities require surgeries, which sometimes may need amputations.
Last updated on 05-01-20
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