Back متلازمة هنتر Arabic Morbus Hunter German Síndrome de Hunter Spanish بیماری هانتر Persian Hunterin oireyhtymä Finnish Maladie de Hunter French תסמונת האנטר HE Sindrome di Hunter Italian Гунтер синдромы Kazakh 헌터 증후군 Korean
| Hunter syndrome | |
|---|---|
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| Patient with Hunter syndrome | |
| Specialty | Endocrinology  |
| Symptoms | Skeletal abnormalities, hearing loss, retinal degeneration, enlarged liver and spleen |
| Complications | Upper airway disease; cardiovascular failure |
| Causes | Defiency of the enzyme iduronate-2-sulfatase |
| Differential diagnosis | Mucopolysaccharidosis type I; other mucopolysaccharidoses |
| Prognosis | In severe cases, death usually occurs by age 15. In attenuated cases, patients may survive into their 50s |
| Frequency | 1 in 100,000 to 150,000 male births[1] |
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. 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 to those of MPS I. It causes abnormalities in many organs, including the skeleton, heart, and respiratory system. In severe cases, this leads to death during the teenaged years. Unlike MPS I, corneal clouding is not associated with this disease.[1]
- ^ a b "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 November 2017. Retrieved 11 May 2018.
- ^ Wraith JE, Scarpa M, Beck M, et al. (March 2008). "Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy". Eur. J. Pediatr. 167 (3): 267–77. doi:10.1007/s00431-007-0635-4. PMC 2234442. PMID 18038146.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 544. ISBN 978-0-7216-2921-6.
- ^ a b Le, Tao; Bhushan, Vikas; Hofmann, Jeffrey (2012). First Aid for the USMLE Step 1. McGraw-Hill. p. 117.