What is Muckle Wells Syndrome?
Muckle - Wells Syndrome is a genetic condition which is triggered by mutations in the CIAS1 gene . The chief feature of this shape is frequent pyrexia , rashes , and severe joint pains . At time , these symptoms of Muckle - Wells Syndrome tend to get exasperate by frigid weather condition or being in cool areas . These symptoms can also be triggered by certain stimulus other than moth-eaten weather also . Progressive hearing loss is yet another common characteristic of Muckle - Wells Syndrome .
Amyloidosis is one of the complications of this condition in which excess amyloid which is a protein that accumulates in the organic structure . If leave behind untreated , this may damage the kidneys and lead to nephritic failure . Amyloidosis is a complication which develop much afterwards in life of an individual with Muckle - Wells Syndrome .
What are the Causes of Muckle Wells Syndrome?
As stated , the root causal agency of Muckle - Wells Syndrome is the chromosomal mutation in cistron CIAS1 . This gene is responsible for for protein cryopyrin . As a result of the mutation , excess amount of the protein cryopyrin is produced . This protein is responsible for regulation of another protein called interleukin which is responsible for for inflammation . An increment in interleukin result in increase inflammatory answer causing the characteristic feature like pyrexia , joint infliction , and rashes of Muckle - Wells Syndrome .
This condition follow an autosomal rife normal of inheritance meaning that one copy of the defective gene from either parent is enough for a child to develop Muckle - Wells Syndrome .
What are the Symptoms of Muckle Wells Syndrome?
Recurrent rashes which start from early babyhood along with intermittent feverishness and severe joint botheration are the salient feature of Muckle - Wells Syndrome . to boot , the nipper may have pinkeye along with red of the eyes and empty from the eyes as well .
As the kid grows he or she will tend to have reformist auditory modality loss as a result of Muckle - Wells Syndrome . Much later in life , the individual will have amyloidosis which if leave alone untreated can conduce to renal failure as a result of Muckle - Wells Syndrome .
bulk of the symptom of Muckle - Wells Syndrome tend to get exacerbate by cold temperature and most of the exacerbations last for 24 to 48 hours only to recur again as a result of Muckle - Wells Syndrome .
How is Muckle Wells Syndrome Diagnosed?
The diagnosis of Muckle - Wells Syndrome is made by count at the presenting features of the patient along with certain specialised exam . A genetic trial will be done which will understandably show mutation in gene CIAS1 gene which will sustain the diagnosis of Muckle - Wells Syndrome .
How is Muckle Wells Syndrome Treated?
The audition loss that is make by Muckle - Wells Syndrome can be treated with try aids while for joint painfulness nonsteroidal anti-inflammatory drug are mostly prefer as a treatment for Muckle - Wells Syndrome .
high-pitched dose steroids have also been prove to be beneficial albeit with some undesirable side event in some cases of Muckle - Wells Syndrome . aside from this , treatment is only symptomatic for Muckle - Wells Syndrome . Arcalyst and Ilaris are some of the medications most prefer for treatment of Muckle - Wells Syndrome .
