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huntsman syndrome is a genetic upset that results due to a defect in 10 chromosome . This is an X linked recessive disorder . In this disease there is absence of an enzyme named iduronate-2 - sulfatase ( I2S ) . This enzyme is necessary for breaking down the glycosaminoglycans ( GAGs ) . When this enzyme is absentminded , there is accumulation of jest in the cells and tissue leading to unlawful operation of all the organs and system of the eubstance . There is modification in the computer architecture and functioning of the tissue and cells of the body . hunting watch syndrome is also known as mucopolysaccharidosis eccentric II ( MPS II ) .
How Is Hunter Syndrome Diagnosed?
The follow mansion and symptom ( Red Flag signs and symptom ) are very important for the diagnosis of Hunter syndrome-
Facial dysmorphism – all-embracing nose , common facial features , thicken backtalk , macroglossia ( blown-up tongue ) , prominence of supraorbital ridges
Skeletal problems – Abnormally thickened bones , carpal burrow syndrome .
First the Hunter syndrome is diagnosed on the basis of mark and symptoms of the patient . If the sign and symptom point towards Hunter syndrome , further investigations are done.(1 ) ( 2 )
Urinary GAG ( glycosaminoglycans ) Excretion – In Hunter syndrome there is increased excretion of GAGs in the urine . But if the test turn out to be negative , it does not intend that the disease can be ruled out . Other tests like enzyme activity assays are perform to confirm the diagnosing .
Genetic Testing – In genetic testing the venue of unnatural chromosome is found and it is identified if the female is a carrier or not . This test is very helpful for class preparation if the female person is determine to be a carrier .
Enzyme Activity – When the urinary GAG excretion is retrieve to be gamy , the next footfall is enzyme action . For this test , samples pile up are serum or plasma or leukocytes . The bodily process of iduronate-2 - sulfatase ( I2S ) is detected . The enzyme activity is decreased or very small in Hunter syndrome . Enzyme check is found to be the gold standard investigation for the diagnosis of Hunter syndrome .
Other finding Often see In Patients With Hunter Syndrome-
Central Nervous System – Seizures may be present . These should be treated with anti - convulsant therapy . Spinal corduroy compression may be present head to cervical myelopathy . Decompression must be done to relieve the symptom .
Cardiovascular System – Bacterial endocarditis is common in patients with Hunter syndrome and so preventive treatment must be give . Cardiac valve alternate operation might be needed in some patients with spartan disease .
Ophthalmic Findings – Retinopathy is coarse due to deposition of GAGs in the retinal epithelial cell . This lead to retinal degeneration and photoreceptor loss . Glaucoma is rare in patients with Hunter syndrome but if present immediate treatment must be started .
Audiologic Findings – Hearing expiration is universal in patients with Hunter syndrome . Due to hearing loss , there might be get a line difficulty and social detachment . Regular medical checkup must be done every 6 to 12 calendar month to check the progress of hear passing and see if there are any ear infections . right use of get a line aids must be advised .
Dental finding – Patient must be rede to take proper dental care . There might be delayed dental eruption .
Respiratory scheme – If the patient role has persistent hypoxia , supplemental atomic number 8 is give . To alleviate the symptoms of obstructor , tonsillectomy and also adenoidectomy is usually do .
Conclusion
Above given star sign and symptom are the most important for the diagnosis of Hunter syndrome . If Hunter syndrome is suspected on the base of clinical signs and symptoms , then further laboratory investigations are done . The first investigation is urinary excretion of GAGs and after this enzyme assays are done for substantiation .
References-
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