CID16020046: Difference between revisions
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== Congenital Insensitivity to Pain with Anhidrosis (CIPA) == | |||
[[File:CID16020046_structure.png|thumb|right|Diagram illustrating the genetic structure associated with CIPA.]] | |||
'''Congenital Insensitivity to Pain with Anhidrosis (CIPA)''', also known as '''Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)''', is a rare [[autosomal recessive]] disorder characterized by the inability to feel pain and temperature, along with decreased or absent sweating (anhidrosis). This condition is caused by mutations in the [[NTRK1]] gene, which is crucial for the development and function of [[nerve cells]] that transmit pain, temperature, and autonomic signals. | |||
== | == Clinical Features == | ||
Individuals with CIPA are unable to perceive pain, which can lead to repeated injuries, burns, and other trauma that go unnoticed. The lack of pain sensation is often accompanied by anhidrosis, which can result in [[hyperthermia]] due to the body's inability to regulate temperature through sweating. Other features may include: | |||
* [[Intellectual disability]] | |||
* [[Self-mutilation]] behaviors | |||
* [[Joint deformities]] due to repeated injuries | |||
* [[Infections]] due to unnoticed injuries | |||
[[Category: | == Pathophysiology == | ||
[[Category: | |||
CIPA is caused by mutations in the [[NTRK1]] gene, which encodes the [[neurotrophic tyrosine kinase receptor type 1]]. This receptor is essential for the survival and function of [[nociceptive neurons]] and [[sympathetic neurons]]. The absence or dysfunction of these neurons leads to the clinical manifestations of CIPA. | |||
== Diagnosis == | |||
Diagnosis of CIPA is based on clinical evaluation, family history, and genetic testing to identify mutations in the [[NTRK1]] gene. A skin biopsy may show the absence of [[nerve fibers]] responsible for pain and temperature sensation. | |||
== Management == | |||
Management of CIPA focuses on preventing injuries and managing complications. This includes: | |||
* Regular monitoring for injuries and infections | |||
* Protective measures to prevent trauma | |||
* Management of [[hyperthermia]] through environmental control | |||
* Multidisciplinary care involving [[neurologists]], [[orthopedic surgeons]], and [[psychologists]] | |||
== Prognosis == | |||
The prognosis for individuals with CIPA varies. While the condition itself is not life-threatening, complications from injuries and infections can significantly impact quality of life and life expectancy. | |||
== Related Pages == | |||
* [[Hereditary Sensory and Autonomic Neuropathy]] | |||
* [[NTRK1]] | |||
* [[Pain perception]] | |||
* [[Autosomal recessive disorder]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Neurological disorders]] | |||
[[Category:Rare diseases]] | |||
Latest revision as of 11:06, 15 February 2025
Congenital Insensitivity to Pain with Anhidrosis (CIPA)[edit]
Congenital Insensitivity to Pain with Anhidrosis (CIPA), also known as Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV), is a rare autosomal recessive disorder characterized by the inability to feel pain and temperature, along with decreased or absent sweating (anhidrosis). This condition is caused by mutations in the NTRK1 gene, which is crucial for the development and function of nerve cells that transmit pain, temperature, and autonomic signals.
Clinical Features[edit]
Individuals with CIPA are unable to perceive pain, which can lead to repeated injuries, burns, and other trauma that go unnoticed. The lack of pain sensation is often accompanied by anhidrosis, which can result in hyperthermia due to the body's inability to regulate temperature through sweating. Other features may include:
- Intellectual disability
- Self-mutilation behaviors
- Joint deformities due to repeated injuries
- Infections due to unnoticed injuries
Pathophysiology[edit]
CIPA is caused by mutations in the NTRK1 gene, which encodes the neurotrophic tyrosine kinase receptor type 1. This receptor is essential for the survival and function of nociceptive neurons and sympathetic neurons. The absence or dysfunction of these neurons leads to the clinical manifestations of CIPA.
Diagnosis[edit]
Diagnosis of CIPA is based on clinical evaluation, family history, and genetic testing to identify mutations in the NTRK1 gene. A skin biopsy may show the absence of nerve fibers responsible for pain and temperature sensation.
Management[edit]
Management of CIPA focuses on preventing injuries and managing complications. This includes:
- Regular monitoring for injuries and infections
- Protective measures to prevent trauma
- Management of hyperthermia through environmental control
- Multidisciplinary care involving neurologists, orthopedic surgeons, and psychologists
Prognosis[edit]
The prognosis for individuals with CIPA varies. While the condition itself is not life-threatening, complications from injuries and infections can significantly impact quality of life and life expectancy.
