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Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). [2] [3] The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues. [4] Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance. [4] The symptoms of Hunter syndrome are comparable ...
Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer. [75]
Children with Hurler syndrome may appear normal at birth and develop symptoms over the first years of life. Symptoms vary between patients. [citation needed] One of the first abnormalities that may be detected is coarsening of the facial features; these symptoms can begin at 3–6 months of age. The head can be large with prominent frontal bones.
Physical symptoms generally include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately short trunk , dysplasia (abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver (hepatomegaly) or spleen ...
Many patients, on the other hand, reject the implication that their problems are "all in their head", and feel their symptoms have a physical cause. Diagnosis of MUPS is seldom a satisfactory situation for the patient, and can lead to an adversarial doctor-patient relationship . [ 17 ]
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The drug Elmiron helps, for some patients, to prevent the formation of Hunner's ulcers by coating the bladder wall, thus making it harder for the acid in urine to irritate the bladder wall lining, which can lead to ulceration. Elmiron is a controversial medication within the interstitial cystitis community, with its efficacy questioned by many.
The medical necessity of fundus photography must be recorded comprehensively so that the clinician is able to compare photographs of a patient from different timelines. Documents of a patient's medical record must consist of a recent, relevant history, progress notes and fundus photographs depicting and supporting the relevant diagnosis.