Isifo sePompe: siyini, izimpawu nokwelashwa

-Delile

• Izimpawu zesifo sePompe
• Ukuxilongwa kwesifo sikaPompe
• Injani impatho
• I-Physiotherapy yesifo sikaPompe

Isifo sikaPompe yisifo esingajwayelekile se-neuromuscular of the native origin esibonakala ngokuba buthakathaka kwemisipha okuqhubekayo kanye nezinguquko zenhliziyo nezokuphefumula, ezingabonakala ezinyangeni zokuqala eziyi-12 zokuphila noma kamuva ngesikhathi sobuntwana, ebusheni noma ebudaleni.

Isifo sikaPompe sivela ngenxa yokushoda kwe-enzyme ebhekene nokuwohloka kwe-glycogen emisipheni nasesibindi, i-alpha-glucosidase-acid, noma i-GAA. Lapho le enzyme ingekho noma itholakala ekugxileni okuphansi kakhulu, i-glycogen iqala ukuqoqana, edala ukubhujiswa kwamaseli emisipha yezicubu, okuholele ekuveleni kwezimpawu.

Lesi sifo asinakho ukwelashwa, kepha kubaluleke kakhulu ukuthi ukuxilongwa kwenziwe ngokushesha okukhulu ukuze kungabikho ukuvela kwezimpawu ezibeka engozini impilo yomuntu. Yize lungekho ikhambi, isifo sikaPompe silashwa ngokufakwa esikhundleni se-enzyme nangesikhathi se-physiotherapy.

Izimpawu zesifo sePompe

Isifo sikaPompe yisifo sofuzo nesofuzo, ngakho-ke izimpawu zingavela noma ngasiphi isikhathi. Izimpawu zihlobene ngokomsebenzi we-enzyme kanye nenani le-glycogen enqwabelene: ukwehla komsebenzi we-GAA, kukhula inani le-glycogen futhi, ngenxa yalokho, kulimala kakhulu amangqamuzana emisipha.

Izimpawu nezimpawu eziyinhloko zesifo sikaPompe yilezi:

• Ukuqhubeka nobuthakathaka bemisipha;
• Ubuhlungu bemisipha;
• Ukuhamba okungazinzile kuzikhonkwane;
• Kunzima ukukhuphuka izitebhisi;
• Ubunzima bokuphefumula ngentuthuko yamuva yokwehluleka kokuphefumula;
• Kunzima ukuhlafuna nokugwinya;
• Ukuntuleka kwezimoto ekukhuleni kweminyaka;
• Ubuhlungu emhlane ongezansi;
• Kunzima ukuvuka ekuhlaleni noma ekulaleni.

Ngaphezu kwalokho, uma kukhona umsebenzi omncane noma ongenawo we-enzyme ye-GAA, kungenzeka ukuthi lowo muntu unenhliziyo ekhulisiwe nesibindi.

Ukuxilongwa kwesifo sikaPompe

Ukuxilongwa kwesifo sikaPompe kwenziwa ngokuqoqa igazi elincane ukuhlola umsebenzi we-enzyme ye-GAA. Uma kutholakala umsebenzi omncane noma ongatholakali nhlobo, ukuhlolwa kofuzo kuyenziwa ukuqinisekisa lesi sifo.

Kungenzeka ukuxilonga ingane ngenkathi isakhulelwe, ngokusebenzisa i-amniocentesis. Lokhu kuhlolwa kufanele kwenziwe endabeni yabazali asebevele benengane enesifo sikaPompe noma lapho omunye wabazali enesifo esesidlulile. Ukuhlolwa kwe-DNA kungasetshenziswa futhi njengendlela yokusekela ekutholeni isifo sikaPompe.

Injani impatho

Ukwelashwa kwesifo sikaPompe kucacile futhi kwenziwa ngokusetshenziswa kwe-enzyme engakhiqizi isiguli, i-enzyme alpha-glucosidase-acid. Ngakho-ke, umuntu uqala ukululaza i-glycogen, evimbela ukuvela kokulimala kwemisipha. Umthamo we-enzyme ubalwa ngokwesisindo sesiguli futhi usetshenziswa ngqo emthanjeni njalo ezinsukwini eziyi-15.

Imiphumela izoba ngcono uma kutholakala ukuxilongwa ngaphambi kwesikhathi futhi ukwelashwa kwenziwa, okwehlisa ngokwemvelo ukulimala kwamaselula okubangelwe ukuqoqwa kwe-glycogen, engalungiseki futhi, ngalokho-ke, isiguli sizoba nempilo engcono.

I-Physiotherapy yesifo sikaPompe

I-Physiotherapy yesifo sikaPompe yingxenye ebalulekile yokwelashwa futhi isebenza ukuqinisa nokwandisa ukubekezela kwemisipha, okufanele kuqondiswe ngudokotela oyisazi esikhethekile. Ngaphezu kwalokho, kubalulekile ukuthi kwenziwe i-physiotherapy yokuphefumula, ngoba iziguli eziningi zingaba nobunzima bokuphefumula.

Ukwelashwa okuhambisanayo nodokotela wezinkulumo, i-pulmonologist kanye ne-cardiologist kanye ne-psychologist ndawonye eqenjini lezinkambo ezahlukahlukene kubaluleke kakhulu.