Hunter syndrome overview: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
Hunter syndrome is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific [[mucopolysaccharides]], also known as [[glycosaminoglycans]] or GAG. Hunter syndrome is one of several related lysosomal storage diseases. | Hunter syndrome is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific [[mucopolysaccharides]], also known as [[glycosaminoglycans]] or GAG. Hunter syndrome is one of several related lysosomal storage diseases. | ||
==Natural History, Complications and Prognosis== | |||
Not all people with Hunter syndrome are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, Hunter syndrome is always severe, progressive, and life-limiting. | |||
==Diagnosois== | |||
===Physical Examination=== | |||
Physical manifestations for some people with Hunter syndrome include distinct facial features, a large head, and an enlarged abdomen. People with Hunter syndrome may also experience hearing loss, thickening of the [[heart valve]]s leading to a decline in cardiac function, obstructive airway disease, [[sleep apnea]], and enlargement of the [[liver]] and [[spleen]]. Range of motion and mobility may also be affected. In some cases of Hunter syndrome, [[central nervous system]] involvement leads to developmental delays and nervous system problems. | |||
==References== | ==References== |
Revision as of 04:50, 26 February 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hunter syndrome is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S).
Historical Perspective
The syndrome is named after physician Charles A. Hunter (1873-1955), who first described it in 1917. Born in Scotland, Hunter emigrated to Canada and had a medical practice in Winnipeg, Manitoba.
Pathophysiology
Hunter syndrome is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAG. Hunter syndrome is one of several related lysosomal storage diseases.
Natural History, Complications and Prognosis
Not all people with Hunter syndrome are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, Hunter syndrome is always severe, progressive, and life-limiting.
Diagnosois
Physical Examination
Physical manifestations for some people with Hunter syndrome include distinct facial features, a large head, and an enlarged abdomen. People with Hunter syndrome may also experience hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen. Range of motion and mobility may also be affected. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems.