Mucopolysaccharidosis ituaiga I

Mucopolysaccharidosis type I (MPS I) o se faʻamaʻi seasea o le tino o loʻo misia pe le lava foi 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 I o le sili ona taatele.

E tele isi ituaiga o MPS, e aofia ai:

• MPS II (Hunter syndrome)
• MPS III (Sanfilippo syndrome)
• MPS IV (Morquio syndrome)

MPS I ua tofi mai ia te aʻu, o lona uiga e tatau ona pasi atu e ou matua le faʻamaʻi ia te oe. Afai o matua uma o loʻo aveina le le galueaina kopi o le kenera e faʻatatau i lenei tulaga, taʻitasi o a latou fanau ei ai le 25% (1 i le 4) avanoa e maua ai le faʻamaʻi.

Tagata e iai MPS Ou te le faia se enzyme e taʻua ole lysosomal alpha-L-iduronidase. O lenei enzyme e fesoasoani e talepe i lalo filifili uumi o suka suka e taʻua o le glycosaminoglycans. O nei molemole o loʻo maua i le tino atoa, e masani ona fai i mucus ma suamalie faataamilo i soʻoga.

A aunoa ma le enzyme, glycosaminoglycans fausia ma faʻaleagaina totoga, aofia ai ma le fatu. Faʻailoga e mafai ona amata mai i le agamalu i le ogaoga. O le agamalu foliga ua taʻua o attenuated MPS I ma o le ogaoga foliga e taʻua ogaoga MPS I.

Faʻailoga o le MPS E masani ona ou aliali mai i le va o tausaga 3 i le 8. Tamaiti e ogaoga le MPS Ou te atiaʻe faʻailoga muamua nai lo i latou e iai le foliga laʻititi.

O nisi o faʻailoga e aofia ai:

• Ivi e le masani ai i le tuasivi
• Le mafai e tatala atoa tamatamailima (matiuʻu lima)
• Ao kuka
• Tutuli
• Tuputupu ae Faʻamaonia
• Faʻafitauli ole alatoto ole fatu
• Faamaʻi soʻoga, e aofia ai le maʻaʻa
• O le le atoatoa le mafaufau e atili ai ona leaga i le taimi ogaoga MPS I
• Mafiafia, mageso foliga vaaia ma maualalo alalaupapa nasal

I nisi setete, o pepe e suʻesuʻeina mo MPS I o se vaega o suʻesuʻega o pepe faatoa fananau mai.

O isi suʻega e ono faia faʻamoemoe i faʻailoga, aofia ai:

• ECG
• Suʻega faʻapitoa mo suiga i le ituaiga alpha-L-iduronidase (IDUA)
• Suʻesuʻega mimi mo faʻaopopoga mucopolysaccharides
• X-ray o le tuasivi

Enzyme suia togafitiga ono fautuaina. O le vailaʻau, ua faʻaigoaina o le laronidase (Aldurazyme), e avatua i le alatoto (IV, i totonu o le alatoto). E suia le leiloa enzyme. Talanoa i lau tama tautua mo nisi faʻamatalaga.

Ua uma ona faʻataʻitaʻia le gaʻoina o ponaivi. O le togafitiga na i ai fefiloi taunuuga.

O isi togafiti faʻamoemoe i totoga o loʻo aʻafia.

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

• National MPS Society - mpssociety.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Tamaiti e ogaoga le MPS E masani ona ou le lelei. O latou faʻafitauli tau soifua maloloina na atili ai ona leaga ile taimi, ma mafua ai le maliu ile tausaga 10.

Tamaiti e faʻamaʻaina (milder) MPS E i ai ni aʻu faʻafitauli tau soifua maloloina, ma le tele o ola masani i le matutua.

Valaʻau lau tautua pe a fai:

• E iai sau talaʻaga aiga ole MPS I ma o loʻo mafaufau e fai sau fanau
• Ua amata ona faʻaalia e lou alo faʻailoga o le MPS I

Fautuaina e le au atamamai fautuaga faʻafesagaʻi ma faʻataʻitaʻiga mo ulugaliʻi ma se aiga talaʻaga o le MPS I o loʻo mafaufau e fai se fanau. O loʻo avanoa le faʻataʻitaʻiga ole Prenatal.

Le lava le Alpha-L-iduronate; Mucopolysaccharidosis ituaiga I; MPS ogaoga I; Faʻamalosi MPS I; MPS I H; MPS I S; Hurler syndrome; Scheie syndrome; Hurler-Scheie syndrome; MPS 1 H / S; Lysosomal teuina faʻamaʻi - mucopolysaccharidosis ituaiga I

• Alalaupapa laulalo maualalo

Pyeritz RE. Mauaina faamaʻi o fesoʻotaʻiga aano. I totonu: Goldman L, Schafer AI, eds. Faʻafomaʻi Goldman-Cecil. 25th lomiga. Filatelefaia, PA: Elsevier Saunders; 2016: mata 260

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.