Mukopolisakaridoza tip VII

Klasifikacija	D ICD-10: E76.2; ICD-9-CM: 277.5; OMIM: 253220; MeSH: D016538; DiseasesDB: 8389;
Spoljašnji resursi	eMedicine: ped/858;

Mukopolisakaridoza tip VII
Mukopolisakaridoza tip VII
Sinonimi	Sly syndrome
	Mukopolisakaridoza tip VII je autozomno recesivni oblik nasleđivanja
	[uredi na Vikipodacima]

Mukopolisakaridoza tip VII ili engl. Sly syndrome (skraćeno MPS VII) jedan je od češćih oblika mukopolisaharidoza, koji se prema procenama javlja kod manje od 1 od 250.000 porođaja. Poremećaj je uzrokovan nedostatkom enzima beta-glukuronidaze. U najređim oblicima, uzrokuje rađanje dece sa fetalnim hidropsom, u kome se ekstremne količine tečnosti zadržavaju u telu. Preživljavanje takve dece je obično nekoliko meseci ili manje.^[1]

Neurološki simptomi mogu uključivati blago do umereno intelektualno oštećenje do 3 godine, prateći hidrocefalus, kompresiju nerava, zamućenje rožnjače i nekiod oblika gubitaka perifernog i noćnog vida.^[2] Ostali simptomi uključuju usporen rast, određene forme nepravilnosti u skeletu, ukočenost u zglobovima sa ograničenim kretanjem, i pupčane i/ili ingvinalne kile. Neki pacijenti mogu imali i ponavljajuće poremećaje disajnih funkcija pluća tokom prvih godina života. Većina dece sa MPS VII živi do tinejdžerskog ili mladalačkog perioda života.

Izvori uredi

^ Sly WS, Quinton BA, McAlister WH, Rimoin DL. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr. 1973 Feb. 82 (2):249-57.
^ * Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, et al. Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome). Invest Ophthalmol Vis Sci. 2011 Aug. 52(9):6720-8.

Literatura uredi

de Ruijter J, de Ru MH, Wagemans T, Ijlst L, Lund AM, Orchard PJ, et al. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab. 2012 Dec. 107(4):705-10.
Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997 Dec. 101(3):355-8.
Wallace SP, Prutting CA, Gerber SE. Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int J Pediatr Otorhinolaryngol. 1990 Jun. 19(2):97-107. [Medline].
Smith LJ, Baldo G, Wu S, Liu Y, Whyte MP, Giugliani R, et al. Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII. Mol Genet Metab. 2012 Sep. 107(1-2):153-60. [Full Text].
Sly WS, Vogler C. Gene therapy for lysosomal storage disease: a no-brainer? Transplants of fibroblasts secreting high levels of beta-glucuronidase decrease lesions in the brains of mice with Sly syndrome, a lysosomal storage disease. Nat Med. 1997 Jul. 3(7):719-20.
Vellodi A, Young EP, Cooper A, et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child. 1997 Feb. 76(2):92-9.
Fox JE, Volpe L, Bullaro J, Kakkis ED, Sly WS. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab. 2015 Feb. 114 (2):203-8.
Harmatz, Paul, et al. A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII. Molecular Genetics and Metabolism. 2017. 120 (1):S63.
Emory AE, Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. Pearson Professional; 1996. 2077-8.
McKusick VA. Gene 253220. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Vol 3. Johns Hopkins University Press; 1998.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20. 281(3):249-54.
Nampoothiri S, Kappanayil M, Hiran KR, Sunitha V. Sly Disease Mucopolysaccharidosis Type VII. Indian Pediatr. 2008 Oct. 45(10):859-61.
Neufeld E, Muenzer J. The Mucopolysaccharidoses. Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2001. 3421-52.
Peters C, Shapiro EG, Anderson J, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. 1998 Apr 1. 91(7):2601-8.
Wasant P, Wattanaweeradej S, Raksadawan N, Kolodny EH. Lysosomal storage disorders in Thailand: the Siriraj experience. Southeast Asian J Trop Med Public Health. 1995. 26 Suppl 1:54-8.
Whitley CB, Belani KG, Chang PN, Summers CG, Blazar BR, Tsai MY. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet. 1993 Apr 15. 46(2):209-18.

Spoljašnje veze uredi

Mucopolysaccharidoses Types I-VII (jezik: engleski)
Mucopolysaccharidoses Fact Sheet (jezik: engleski)

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[1] Sly WS, Quinton BA, McAlister WH, Rimoin DL. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr. 1973 Feb. 82 (2):249-57.

[2] * Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, et al. Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome). Invest Ophthalmol Vis Sci. 2011 Aug. 52(9):6720-8.

[1]

[2]

Klasifikacija	D ICD-10: E76.2 ICD-9-CM: 277.5 OMIM: 253220 MeSH: D016538 DiseasesDB: 8389
Spoljašnji resursi	eMedicine: ped/858