Mucopolysaccharidosis ituaiga II

Mucopolysaccharidosis type II (MPS II) o se faʻamaʻi seasea o le tino o loʻo misi pe le lava le o se enzyme manaʻomia e talepeina umi filifili o suka mole. O filifili o molemole e taʻua o le glycosaminoglycans (na taʻua muamua o le mucopolysaccharides). O lona iʻuga, e faʻaputuputu ni molemole i vaega eseese o le tino ma mafua ai faʻafitauli eseese tau le soifua maloloina.

O le tulaga e faatatau i se vaega o faʻamaʻi e taʻua o le mucopolysaccharidoses (MPSs). MPS II e taʻua foi o le Hunter syndrome.

E tele isi ituaiga o MPS, e aofia ai:

• MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
• MPS III (Sanfilippo syndrome)
• MPS IV (Morquio syndrome)

MPS II o se faʻamaʻi tofi. O lona uiga e pasi mai i aiga. O le vaega ua afaina o loʻo i le X chromosome. E masani ona aʻafia tama ona e fai ma o latou tofi le X chromosome mai o latou tina. O latou tina e leai ni faʻailoga o le faʻamaʻi, ae latou te aveina se kopi le aoga o le kenera.

MPS II e mafua mai i le le lava o le enzyme iduronate sulfatase. A aunoa ma lenei enzyme, filifili o suka suka e faʻaputuputu luga i tino eseese tino, mafua ai le faʻaleagaina.

O le amataga-amataga, ogaoga ituaiga o faʻamaʻi amata vave ina ua tuanaʻi tausaga 2. O le tuai-amataga, agamalu foliga mafua ai laʻititi tiga faʻailoga e aliaʻe mulimuli ane i le olaga.

I le amataga-amataga, ogaoga foliga, auga aofia ai:

• Amio faʻasauā
• Hyperactivity
• O le mafaufau e faʻasolo ina leaga i le taimi
• Ogaoga mafaufau
• Gaioiga a le tino o le tino

I le tuai (agamalu) fomu, e mafai ona agamalu e leai se le atoatoa le mafaufau.

I tulaga uma e lua, o faʻailoga e aofia ai:

• Carpal auala faʻafafa
• Ufiufi foliga o foliga
• Tutuli (amata ona leaga i le taimi)
• Faateleina le tupu lauulu
• Maʻaʻa soʻoga faʻatasi
• Ulu lapoʻa

E ono faʻaalia se suʻega faʻaletino ma suʻega:

• Laʻasaga masani (tua o le mata)
• Faʻaitiitia le iduronate sulfatase enzyme i le toto serum poʻo sela
• Musumusu fatu ma valivali fatu valves
• Faʻateleina le ate
• Faʻalautele pupula
• Hernia i totonu o le gasese
• Tuʻufaʻatasiga tuʻufaʻatasi (mai soʻoga malo)

O suʻega e mafai ona aofia ai:

• Suʻesuʻega o le Enzyme
• Suʻega faʻapitoa mo se suiga i le iduronate sulfatase gene
• Suʻega urino mo heparan sulfate ma dermatan sulfate

O le vailaʻau e taʻua o le idursulfase (Elaprase), e mafai ona fautuaina le enzyme iduronate sulfatase. E tuʻuina atu e ala i le alatoto (IV, faʻamaluluina). Talanoa i lau fomaʻi tausi soifua mo nisi faʻamatalaga.

Ua uma ona faʻataʻitaʻia le gaʻoina o ponaivi mo le amataga o ituaiga, ae e mafai ona fesuiaʻi iuga.

O faʻafitauli tau soifua maloloina uma e mafua mai i lenei faʻamaʻi e tatau ona vaʻaia eseese.

O nei fesoasoani e mafai ona maua ai nisi faʻamatalaga e uiga i MPS II:

• National MPS Society - mpssociety.org
• National Organisation for Rare Disorder - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

O tagata e vave amata (ogaoga) fomu e masani ona ola mo le 10 i le 20 tausaga. Tagata i le tuai-amataga (agamalu) fomu masani ona ola 20 i le 60 tausaga.

O nei faʻafitauli e ono tutupu:

• Faalavelave i le alatele
• Carpal auala faʻafafa
• Faʻalogo i leiloa ua atili ai ona leaga i le taimi
• Leiloa o le agavaʻa e faʻamaeʻa ai galuega o aso uma
• Maʻaʻa soʻoga e oʻo atu ai i le gagau
• Faagaioiga o le mafaufau e leaga atili ai a o alu le taimi

Valaʻau lau tautua pe a fai:

• Oe poʻo lou alo e iai se kulupu o faʻailoga nei
• E te iloa o oe o se kenera feaveaʻi ma o loʻo mafaufau e fai sau fanau

O fautuaga faʻapitoa e fautuaina mo ulugaliʻi e manaʻo e fai se fanau ma o latou aiga talaʻaga o le MPS II. O loʻo avanoa le faʻataʻitaʻiga ole Prenatal. O loʻo avanoa foi suʻesuʻega ole feaveaʻi fafine o aiga o tama ua afaina.

MPS II; Hunter faʻamai; Lysosomal teuina faʻamaʻi - mucopolysaccharidosis ituaiga II; Iduronate 2-sulfatase le lava; I2S le lava

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Spranger JW. Mucopolysaccharidoses. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 107.

Turnpenny PD, Ellard S. O mea sese na tutupu mai o le metabolism. I totonu: Turnpenny PD, Ellard S, eds. Emery's Elemene o Fomaʻi Genetics. 15th lomiga. Filatelefia, PA: Elsevier; 2017: mata 18.