Mucopolysaccharidosis ituaiga IV

Mucopolysaccharidosis ituaiga IV (MPS IV) 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 IV e taʻua foi o le Morquio syndrome.

E tele isi ituaiga o MPS, e aofia ai:

• MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
• MPS II (Hunter syndrome)
• MPS III (Sanfilippo syndrome)

MPS IV o se faʻamaʻi tofi. O lona uiga e pasi mai i aiga. Afai o matua uma o loʻo tauʻavea le le galue le kopi o le kenera e fesoʻotaʻi ma lenei tulaga, taʻitasi o a latou fanau ei ai le 25% (1 i le 4) avanoa e atiaʻe ai le faʻamaʻi. E taʻua lea mea o le autosomal recessive uiga.

E lua ituaiga o MPS IV: ituaiga A ma le ituaiga B.

• Ituaiga A e mafua mai i se faʻaletonu i le GALNS gafa Tagata e iai le ituaiga A e leai se enzyme e taʻu N-acetylgalactosamine-6-sulfatase.
• Ituaiga B e mafua mai i se faʻaletonu i le GLB1 gafa Tagata e iai le ituaiga B e le lava le gaosia o le enzyme e taʻua o le beta-galactosidase.

E manaʻomia e le tino nei fualaʻau e gagauina i lalo ni fua uumi o suka suka e taʻua o le keratan sulfate. I ituaiga uma ia e lua, o le tele o glycosaminoglycans e le masani ai ona fausiaina i le tino. Lenei mafai faʻaleagaina totoga.

Faʻailoga masani e amata i le va o tausaga 1 ma le 3. E aofia ai:

• Le masani ai atinae o ponaivi, aofia ai le tuasivi
• O le fatafata foliga pei o le Bell ma ivi asoaso na feula mai i lalo
• Ao puaoa
• Ufiufi foliga vaaia o ou foliga
• Faʻateleina le ate
• Muimui fatu
• Hernia i totonu o le gasese
• Soʻoga Hypermobile
• Tuʻituʻi tulivae
• Ulu lapoʻa
• Leiloa o neula galue i lalo ole ua
• Pupuu tino ma se faʻapitoa puʻupuʻu
• Lautele avanoa nifo

O le a faʻataunuʻuina e le tausi soifua maloloina se suʻesuʻega o le tino e siaki ai faʻailoga e aofia ai:

• Le faʻapologa masani o le tuasivi
• Ao puaoa
• Muimui fatu
• Hernia i totonu o le gasese
• Faʻateleina le ate
• Leiloa o neula galue i lalo ole ua
• Tulaga puʻupuʻu (aemaise puʻupuʻu puʻupuʻu)

E masani lava ona muamua faia suʻesuʻega mimi. O nei suʻega ono faʻaalia faʻaopopo mucopolysaccharides, ae le mafai ona latou fuafuaina le faʻapitoa ituaiga o MPS.

O isi suʻega ono aofia ai:

• Toto aganuu
• Echocardiogram
• Suʻega ole gafa
• Suʻega ole faʻafofoga
• Suʻega mata-moli moli
• Aganuu fibroblast aganuu
• X-ray o ponaivi ponaivi, ivi asoaso, ma tuasivi
• MRI o le ulu lalo ma lalo ua

Mo le ituaiga A, o le vailaʻau e taʻua o le elosulfase alfa (Vimizim), e sui ai le enzyme o loʻo misi, e ono faʻataʻitaʻia. E tuʻuina atu e ala i le alatoto (IV, faʻamaluluina). Talanoa i lau tautua mo nisi faʻamatalaga.

E le avanoa le fomaʻi sui mo le ituaiga B.

Mo ituaiga uma e lua, o faʻailoga e togafitia pe a aliaʻe mai. O le tuʻufaʻatasiga o le tuasivi e ono taofia ai manuʻa tumau o le tuasivi i tagata o latou ua ua ua le o atinaeina.

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

• National MPS Society - mpssociety.org
• Faʻalapotopotoga a le Atunuʻu mo faʻafitauli e seasea tupu - rarediseases.org/rare-diseases/morquio-syndrome
• NIH Genetics Fale Faʻasino Tusi - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

O le iloa mafaufau (agavaʻa e mafaufau manino ai) e masani ona masani ai tagata e iai le MPS IV.

O faʻafitauli ivi e mafai ona iʻu ai i le tele o faʻafitauli tau soifua maloloina. Mo se faʻataʻitaʻiga, o ponaivi ponaivi i le tumutumu o le ua atonu e seʻe ma faʻaleagaina le uaula, mafua ai le supa. O taotoga e faasaʻo ai ia ituaiga faafitauli e tatau ona faia pe a mafai.

O faʻafitauli o le fatu e mafai ona iʻu i le oti.

O nei faʻafitauli e ono tutupu:

• Faʻafitauli manava
• Le lava le fatu
• Faʻaleagaina o uaula ma e mafai ona pē se tino
• Faʻafitauli vaʻai
• Savali faʻafitauli e fesoʻotaʻi ma le faʻasoʻoina o le ivitū ma isi ponaivi faʻafitauli

Valaʻau lau tautua pe a fai o faʻailoga o MPS IV tupu.

O fautuaga faʻapitoa e fautuaina mo ulugaliʻi e manaʻo e fai se fanau ma o latou aiga talaʻaga o le MPS IV. O loʻo avanoa le faʻataʻitaʻiga ole Prenatal.

MPS IV; Morquio syndrome; Mucopolysaccharidosis ituaiga IVA; MPS IVA; Le lava Galactosamine-6-sulfatase; Mucopolysaccharidosis ituaiga IVB; MPS IVB; Beta galactosidase le lava; Lysosomal teuina faʻamaʻi - mucopolysaccharidosis ituaiga IV

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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.

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