O le a le Mucopolysaccharidosis ma faʻafefea ona togafitia

Anotusi

• Ituaiga o mucopolysaccharidosis
• Mafuaʻaga mafuaʻaga
• O a faʻailoga
• O le a le faʻamaoniga
• Faʻafefea ona fai le togafitiga

Mucopolysaccharidosis e iloga mai i se vaega o faʻamaʻi tuufaasolo na mafua mai i le leai o se enzyme, lea ei ai le aoga o le faʻamalosia o le suka valaʻauina mucopolysaccharide, lauiloa foi o le glucosaminoglycan.

E seasea ma faigata ona suʻesuʻe faʻamaʻi, aua e maua ai faʻailoga e tai tutusa lava ma isi faʻamaʻi, pei o le faʻalauteleina le ate ma spleen, faʻaletonu o ponaivi ma soʻoga, faʻasoesa vaʻaia ma faʻafitauli manava, mo se faʻataʻitaʻiga.

E leai se togafiti a le Mucopolysaccharidosis, ae e mafai ona faia se togafitiga e faʻagesegese ai le tupuaga o le faʻamaʻi ma maua ai le ola lelei o le tagata. Togafitiga faʻalagolago i le ituaiga o mucopolysaccharidosis ma mafai ona faia i le sui suia o le enzyme, gaʻo ponaivi ponaivi, faʻamalositino togafitiga po o vailaʻau mo se faʻataʻitaʻiga.

Ituaiga o mucopolysaccharidosis

Mucopolysaccharidosis e mafai ona tele ituaiga, e fesoʻotaʻi ma le enzyme e le mafai e le tino ona gaosia, ma faʻailoa mai ai eseʻese faʻailoga mo faʻamaʻi taʻitasi. O ituaiga eseese o mucopolysaccharidosis o:

• Ituaiga 1: Hurler, Hurler-Schele poʻo Schele syndrome;
• Ituaiga 2: Hunter faʻamai;
• Ituaiga 3: Sanfilippo syndrome;
• Ituaiga 4: Morquio's syndrome. Aʻoaʻo atili e uiga ile mucopolysaccharidosis ituaiga 4;
• Ituaiga 6: Maroteux-Lamy syndrome;
• Ituaiga 7: Sly syndrome.

Mafuaʻaga mafuaʻaga

Mucopolysaccharidosis ose tupuʻaga faʻamaʻi tupuaga, o lona uiga e pasi mai matua i fanau ma o se autosomal recessive faʻamaʻi, seʻi vagana ai le ituaiga II. O lenei faʻamaʻi ua iloga mai i le le gafatia o le tino ona maua mai ai se enzyme e faʻaleagaina ai le mucopolysaccharides.

Mucopolysaccharides o suka uʻamea umi, e taua mo le fausiaina o tino eseese o tino, pei o le paʻu, ponaivi, ivi ma le maso, e faʻaputuputu i nei sela, ae manaʻomia le toe faʻafouina. Mo lenei, e manaʻomia ni enzyme e talepeina i lalo, ina ia mafai ona latou aveʻesea ma suia ma fou mucopolysaccharides.

Peitai, i tagata ma mucopolysaccharidosis, o nisi o nei enzymes ono le i ai mo le malepe o le mucopolysaccharide, mafua ai le faʻafouina taamilosaga e faʻalavelaveina, taitai atu ai i le faaputuputuina o nei suka i le lysosome o sela o le tino, faʻaletonu latou aoga ma le foaʻi tulaʻi i isi faʻamaʻi ma malformations.

O a faʻailoga

O faʻailoga o le mucopolysaccharidosis faʻamoemoeina i le ituaiga o faʻamaʻi o le tagata o loʻo i ai ma e alualu i luma, o lona uiga ua atili ai ona latou leaga a o alualu i luma le faʻamaʻi. O nisi o faʻailoga ma faʻailoga o:

• Faalauteleina ate ma spleen;
• Deformations a ponaivi;
• Faafitauli soofaatasi ma fealuaʻi;
• Pupuu;
• Faʻamaʻi manava;
• Uliʻi poʻo inguinal hernia;
• Faʻafitauli o le manava ma le fatu;
• Faʻalogo ma faʻafitauli vaʻaia;
• Apalai moe;
• Suiga i le Central Nervous System;
• Ua faʻalauteleina le ulu.

I se faʻaopopoga, o le tele o tagata o loʻo mafatia i lenei faʻamaʻi o loʻo iai foʻi latou uiga faʻapitoa foliga.

O le a le faʻamaoniga

E masani lava, o le faʻamaoniga ole mucopolysaccharidosis e aofia ai le iloiloina o faʻailoga ma faʻailoga ma suʻesuʻega suʻesuʻega.

Faʻafefea ona fai le togafitiga

Togafitiga faʻalagolago i le ituaiga o mucopolysaccharidosis o loʻo i ai i le tagata, o le tulaga o le faʻamaʻi ma faʻafitauli e tulaʻi mai ma e tatau ona faia i se taimi vave e mafai ai.

Atonu e fautuaina e le fomaʻi le suia o le enzyme, taotoga o ponaivi o le ponaivi poʻo sauniga faʻamalositino, mo se faʻataʻitaʻiga. I se faʻaopopoga, faʻafitauli mafua mai i le faʻamaʻi tatau foi ona togafitia.