Neonatal-onset multisystem inflammatory disease: Difference between revisions
CSV import Tags: mobile edit mobile web edit |
CSV import |
||
| (3 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
{{Infobox medical condition | |||
| name = Neonatal-onset multisystem inflammatory disease | |||
| synonyms = NOMID, Chronic infantile neurologic cutaneous and articular syndrome (CINCA) | |||
| field = [[Rheumatology]] | |||
| symptoms = [[Fever]], [[rash]], [[arthritis]], [[meningitis]], [[hearing loss]] | |||
| complications = [[Amyloidosis]], [[vision loss]], [[developmental delay]] | |||
| onset = [[Neonatal]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic mutation]] in the [[NLRP3]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Systemic juvenile idiopathic arthritis]], [[Muckle-Wells syndrome]], [[Familial cold autoinflammatory syndrome]] | |||
| treatment = [[Anakinra]], [[Canakinumab]], [[Rilonacept]] | |||
| medication = [[Nonsteroidal anti-inflammatory drug|NSAIDs]], [[Corticosteroids]] | |||
| prognosis = Variable, depends on severity and treatment | |||
| frequency = Rare | |||
| deaths = Rare, but can occur due to complications | |||
}} | |||
'''Neonatal-onset multisystem inflammatory disease''' (NOMID), also known as '''Chronic Infantile Neurological Cutaneous and Articular syndrome''' (CINCA), is a rare [[genetic disorder]] that affects multiple systems of the body. This condition is characterized by a triad of symptoms: skin rash, joint involvement, and chronic [[meningitis]]. | '''Neonatal-onset multisystem inflammatory disease''' (NOMID), also known as '''Chronic Infantile Neurological Cutaneous and Articular syndrome''' (CINCA), is a rare [[genetic disorder]] that affects multiple systems of the body. This condition is characterized by a triad of symptoms: skin rash, joint involvement, and chronic [[meningitis]]. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of NOMID usually appear shortly after birth. The most common symptom is a skin rash that typically appears within the first six weeks of life. Other symptoms may include [[fever]], joint pain, and inflammation of the membranes surrounding the brain and spinal cord (meningitis). In some cases, individuals with NOMID may also experience hearing loss, vision problems, and developmental delays. | The symptoms of NOMID usually appear shortly after birth. The most common symptom is a skin rash that typically appears within the first six weeks of life. Other symptoms may include [[fever]], joint pain, and inflammation of the membranes surrounding the brain and spinal cord (meningitis). In some cases, individuals with NOMID may also experience hearing loss, vision problems, and developmental delays. | ||
== Causes == | == Causes == | ||
NOMID is caused by mutations in the [[NLRP3]] gene. This gene provides instructions for making a protein that is involved in the body's immune response. Mutations in the NLRP3 gene lead to continuous activation of the immune system, resulting in widespread inflammation and the symptoms of NOMID. | NOMID is caused by mutations in the [[NLRP3]] gene. This gene provides instructions for making a protein that is involved in the body's immune response. Mutations in the NLRP3 gene lead to continuous activation of the immune system, resulting in widespread inflammation and the symptoms of NOMID. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of NOMID is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. Genetic testing can confirm a diagnosis. | Diagnosis of NOMID is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. Genetic testing can confirm a diagnosis. | ||
== Treatment == | == Treatment == | ||
Treatment of NOMID is aimed at managing symptoms and preventing complications. This may include medications to reduce inflammation and pain, physical therapy to improve joint mobility, and regular monitoring for potential complications. | Treatment of NOMID is aimed at managing symptoms and preventing complications. This may include medications to reduce inflammation and pain, physical therapy to improve joint mobility, and regular monitoring for potential complications. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with NOMID varies. With early diagnosis and appropriate treatment, many individuals with NOMID can lead productive lives. However, without treatment, NOMID can lead to severe complications, including disability and premature death. | The prognosis for individuals with NOMID varies. With early diagnosis and appropriate treatment, many individuals with NOMID can lead productive lives. However, without treatment, NOMID can lead to severe complications, including disability and premature death. | ||
== See Also == | == See Also == | ||
* [[Autoinflammatory diseases]] | * [[Autoinflammatory diseases]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Meningitis]] | * [[Meningitis]] | ||
== References == | == References == | ||
* [[National Institutes of Health]] | * [[National Institutes of Health]] | ||
* [[Genetics Home Reference]] | * [[Genetics Home Reference]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Autoinflammatory diseases]] | [[Category:Autoinflammatory diseases]] | ||
| Line 35: | Line 41: | ||
{{Medicine-stub}} | {{Medicine-stub}} | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
{{No image}} | |||
Latest revision as of 01:47, 4 April 2025
| Neonatal-onset multisystem inflammatory disease | |
|---|---|
| Synonyms | NOMID, Chronic infantile neurologic cutaneous and articular syndrome (CINCA) |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Fever, rash, arthritis, meningitis, hearing loss |
| Complications | Amyloidosis, vision loss, developmental delay |
| Onset | Neonatal |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the NLRP3 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Systemic juvenile idiopathic arthritis, Muckle-Wells syndrome, Familial cold autoinflammatory syndrome |
| Prevention | N/A |
| Treatment | Anakinra, Canakinumab, Rilonacept |
| Medication | NSAIDs, Corticosteroids |
| Prognosis | Variable, depends on severity and treatment |
| Frequency | Rare |
| Deaths | Rare, but can occur due to complications |
Neonatal-onset multisystem inflammatory disease (NOMID), also known as Chronic Infantile Neurological Cutaneous and Articular syndrome (CINCA), is a rare genetic disorder that affects multiple systems of the body. This condition is characterized by a triad of symptoms: skin rash, joint involvement, and chronic meningitis.
Symptoms and Signs[edit]
The symptoms of NOMID usually appear shortly after birth. The most common symptom is a skin rash that typically appears within the first six weeks of life. Other symptoms may include fever, joint pain, and inflammation of the membranes surrounding the brain and spinal cord (meningitis). In some cases, individuals with NOMID may also experience hearing loss, vision problems, and developmental delays.
Causes[edit]
NOMID is caused by mutations in the NLRP3 gene. This gene provides instructions for making a protein that is involved in the body's immune response. Mutations in the NLRP3 gene lead to continuous activation of the immune system, resulting in widespread inflammation and the symptoms of NOMID.
Diagnosis[edit]
Diagnosis of NOMID is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. Genetic testing can confirm a diagnosis.
Treatment[edit]
Treatment of NOMID is aimed at managing symptoms and preventing complications. This may include medications to reduce inflammation and pain, physical therapy to improve joint mobility, and regular monitoring for potential complications.
Prognosis[edit]
The prognosis for individuals with NOMID varies. With early diagnosis and appropriate treatment, many individuals with NOMID can lead productive lives. However, without treatment, NOMID can lead to severe complications, including disability and premature death.
See Also[edit]
References[edit]
