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CIPA Writeup

WHAT IS CIPA?

Congenital insensitivity to pain to anhidrosis also known as HSAN IV is an extremely rare inherited disease of the nervous system which prevents the sensation of pain, heat, cold which include feeling the urge to eat and urinate. However you are able to feel pressure. This disease is part of a subgroup of diseases called HSAN (Hereditary sensory and autonomic neuropathy).
Anhidrosis means that the person is not able to sweat and congenital means that the condition is present from birth.

CAUSE

CIPA is caused by a genetic mutation which prevents the formation of connections from the nociceptors (nerve that responds to potentially damaging stimuli) and thermoreceptors (senses changes in temperature) to the spinal nerves. This disorder is autosomal recessive and equally present in all racial and ethnic groups, however it more common in cultures in which intermarriage is allowed. The genetic mutation is in the gene encoding the neurotrophic tyrosine kinase receptor (NTKR1 gene). NTKR1 is a gene for nerve growth.

DIAGNOSIS
These two tests are used to diagnose the absence of sweating by stimulating nerves connected to sweat glands: * Quantitative sudomotor axon reflex test (QSART). In this test, the chemical acetylcholine is inserted with electricity, which normally induces sweating. * Sympathetic skin response test (SSR). This test induces sweating by using multiple stimuli including electrical, acoustic, and inspiratory gasp

The second type of test tests for sensory loss which affects pain and temperature perception: * Response to painful stimuli such as pin pricks or vigorous pressure on the Achilles tendons * Decreased perception of hot and cold, which is assessed through a history of unrecognized responses to burns

TREAMENTS

Treatments for CIPA don’t always work. However, there are some cases where the drug naloxone is used as treatment. Naloxone is mainly used for people who overdose on opium by counteracting the depression of the central nervous system.

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