Isifo sePompe: yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu zesifo sePompe
• Ukuchongwa kwesifo sikaPompe
• Unjani unyango
• I-Physiotherapy yesifo sikaPompe

Isifo sikaPompe yingxaki enqabileyo yemithambo-luvo yemvelaphi yemfuza ebonakaliswa buthathaka kwimisipha kunye nentliziyo kunye notshintsho lokuphefumla, olunokubonakalisa kwiinyanga ezili-12 zokuqala zobomi okanye kamva ebuntwaneni, ebusheni okanye ebudaleni.

Isifo sikaPompe sivela ngenxa yokusilela kwe-enzyme ejongene nokonakala kwe-glycogen kwiimisipha kunye nesibindi, i-alpha-glucosidase-acid, okanye i-GAA. Xa le enzyme ingekho okanye ifunyenwe kumanani aphantsi kakhulu, i-glycogen iqala ukuqokelela, ebangela ukutshatyalaliswa kweeseli zomzimba zemisipha, ekhokelela ekubonakaleni kweempawu.

Esi sifo asinanyango, nangona kunjalo kubaluleke kakhulu ukuba isifo senziwe ngokukhawuleza ukuze kungabikho kuphuhliswa kweempawu ezibeka emngciphekweni umgangatho wobomi bomntu. Nangona lungekho unyango, isifo sikaPompe siyanyangwa ngokutshintsha kwe-enzyme kunye neeseshoni ze-physiotherapy.

Iimpawu zesifo sePompe

Isifo sikaPompe sisifo semfuza kunye nelifa, ngenxa yoko iimpawu zinokubonakala nakweyiphi na iminyaka. Iimpawu zihambelana nomsebenzi we-enzyme kunye nenani le-glycogen eqokelelweyo: ezantsi imisebenzi ye-GAA, isixa esikhulu se-glycogen kwaye, ngenxa yoko, mkhulu umonakalo kwiiseli zemisipha.

Iimpawu eziphambili kunye neempawu zesifo sikaPompe zezi:

• Ukuqhubeka nobuthathaka bemisipha;
• Ubuhlungu bemisipha;
• Ukungazinzi ngokungagungqiyo
• Kunzima ukunyuka izitepsi;
• Ukuphefumla ubunzima ngokuphuhla emva kokuphefumla;
• Kunzima ukuhlafuna nokuginya;
• Ukusilela ekuphuhliseni iimoto kubudala;
• Iintlungu kumqolo osezantsi;
• Kunzima ukuphakama ekuhlaleni phantsi okanye ekulaleni.

Ukongeza, ukuba akukho nto incinci okanye akukho msebenzi we-GAA enzyme, kunokwenzeka ukuba umntu unentliziyo eyandisiweyo kunye nesibindi.

Ukuchongwa kwesifo sikaPompe

Ukuchongwa kwesifo sikaPompe kwenziwa ngokuqokelela igazi elincinci ukuvavanya umsebenzi we-enzyme ye-GAA. Ukuba akukho nto ingako ifunyenweyo, kuvavanyo lwemfuza luyenziwa ukuqinisekisa isifo.

Kuyenzeka ukuba uxilonge umntwana ngelixa ekhulelwe, ngokusebenzisa i-amniocentesis. Olu vavanyo kufuneka lwenziwe kwimeko yabazali esele benomntwana onesifo sikaPompe okanye xa omnye wabazali enesimo sesi sifo emva kwexesha. Uvavanyo lwe-DNA lunokusetyenziswa njengendlela yokuxhasa ukufumanisa isifo sikaPompe.

Unjani unyango

Unyango lwesifo sikaPompe luchaziwe kwaye lwenziwa ngokusetyenziswa kwe-enzyme engasivelisi isiguli, i-enzyme alpha-glucosidase-acid. Ke, umntu uqala ukuthoba i-glycogen, ethintela ukuvela komonakalo wemisipha. Idosi ye-enzyme ibalwa ngokobunzima besigulana kwaye isetyenziswa ngqo emthanjeni rhoqo kwiintsuku ezili-15.

Iziphumo ziya kuba ngcono kwangaphambi kokuba uxilongo lwenziwe kwaye unyango luphunyezwe, nto leyo enciphisa ngokwendalo umonakalo weselfowuni obangelwe kukuqokelelwa kwe-glycogen, engenakuguqulwa kwaye, ngenxa yoko, isiguli siya kuba nobomi obungcono.

I-Physiotherapy yesifo sikaPompe

I-Physiotherapy yesifo sikaPompe yinxalenye ebalulekileyo yonyango kwaye isebenza ukomeleza nokunyusa ukunyamezelana kwemisipha, ekufuneka ikhokelwe ngugqirha womzimba okhethekileyo. Ukongeza, kubalulekile ukuba i-physiotherapy yokuphefumula yenziwe, kuba uninzi lwezigulana zisenokuba nobunzima bokuphefumla.

Unyango olongezelelekileyo kunye nengcali yezentetho, ugqirha wamaphaphu kunye nochwephesha wentliziyo kunye nesayikholojisti kunye kwiqela leendlela ezininzi kubaluleke kakhulu.