Ukuba uye wafunda ukuba wena okanye umntu obathandayo unomntwana onesifo sikaPompe, usenokwesaba. Yiyiphi na le ngxaki? Ziziphi iintlobo ezahlukeneyo zesifo? Kwaye kwenzeka njani kwaye uphathwa?
Izifo zePompe okanye iGlycogen Disease II II (GSD-II)
Isifo sePompe, esaziwa nangokuthi isifo se-glycogen isifo II (GSD-II) okanye i-acid maltase, i-49 yayazi i-lysosomal disorders.
Igama le-Pompe isuka kwi-pathologist yaseDutch, uJC Pompe, owathi wachaza usana olunezifo ngo-1932. Isifo sePompe sichaphazela abantu abayi-5 000 ukuya ku-10 000 emhlabeni jikelele. EUnited States, kucinganiselwa ukuba ifuthe 1 kubantu abayi-40,000.
Isifo sePompe kubangelwa ukusilela okanye ukungabi nako ngokupheleleyo kwe-enzyme ebizwa ngokuthi i-acid alpha-glucosidase. Ukuba le enzyme ayisebenzi kakuhle, i-glycogen, ishukela eyinkimbinkimbi, iyakha kwiiseli zomzimba kwaye ibangele umonakalo womzimba kunye nomzimba. Esi sihloko sichaphazela kakhulu izidumbu zomzimba, ezikhokelela ekubuthathaka komzimba. Le ntlupheko ye-enzyme ingaba yingozi yokuphila xa izihlunu zokuphefumula nentliziyo zichaphazelekayo. Iimeko ziyimfuza, kwaye bobabini abazali kufuneka baphathe umthwalo wokuguqula umntwana wabo ukuba awudle ilifa.
Kukho iintlobo ezimbini zezifo zePompe - ukuvuka kwentombazana kunye nokuqala kokubuya-kokubili okubangela ukuba ubuthathaka bube buhlungu. Indlela esi sifo esenza ngayo kuxhomekeke kwindlela yokuqala iqala ngayo.
Izifo zePompe Disease
Ukuqala-ntwazana kungabonwa njengolu hlobo olubi lwesifo sePompe. Iimeko zivame ukubonakala ezinyangeni ezimbalwa zokuqala zobomi. Iintsana zibuthathaka kwaye zinenkathazo yokubamba iintloko zazo. Intliziyo yabo isifo kwaye iintliziyo zabo zandiswe kwaye zibuthathaka. Basenokuba neelwimi ezinkulu, ezikhukhulayo kunye nesibindi esandisiweyo.
Ezinye iimpawu ziquka:
- Ukungaphumeleli ukukhula nokwenza ubunzima (ukungaphumeleli ukukhula)
- Iintsilelo zeentliziyo kunye nentliziyo engavumelekanga
- Ukuphefumula okunzima okubandakanya ukutyhafa
- Ukunyusa ukutya kunye nokugwinya
- Iimpawu eziphambili zokuphuhliswa ezinjengokugqithisa okanye ukukhahlela
- Iingxaki zithwala iingalo nemilenze
- Ukulahleka kokuva
Isi sifo siphuthuma ngokukhawuleza, kwaye abantwana bafa ngokuphelelwa yintliziyo kunye nobuthakathaka bokuphefumula ngaphambi kokuzalwa kwabo kokuqala. Abantwana abachaphazelekayo banokuhlala ixesha elide kunye neendlela ezifanelekileyo zokonyango.
Isifo sePompe Disease
Isifo esipheleleyo sesifo sePompe ngokuqhelekileyo siqala ngeempawu zobuthakathaka be-muscle ezinokuqala nanini na ixesha ukususela ebuntwaneni kubantwana. Ubuthakathaka obuthathaka buchaphazela isiqingatha esingaphantsi komzimba ngaphezu kweendawo eziphezulu. Esi sifo siyaqhubeka sihamba ngokuthe ngcembe kunesimo esincinci, kodwa abantu banomdla wokunciphisa ubomi.
Ukulindela ubomi kuxhomekeke ekubeni imeko iqala kwaye njani iimpawu zihamba phambili ngokukhawuleza. Iimpawu ezifana nobunzima bokuhamba okanye ukunyuka kwezitepsi ziqala kwaye zenze inkqubela phambili kwiminyaka. Njengokuqala kokuqala, abantu abanokuqala ukuqala-nto bangaba neengxaki zokuphefumla. Njengoko eso sifo siqhubeka, abantu bahlala bevili okanye bahlala bhedridden kwaye bafuna ukuphefumla umoya.
Ukuxilongwa
Isifo sePompe sivame ukufunyanwa emva kokunyuka kwesifo. Kubantu abadala, isifo sePompe singadideka kunye nezinye izifo ezinamahlunu ezingapheli ezifana ne- multiple sclerosis . Ukuba ugqirha wakho uxolisa isifo sePompe, banokuhlola umsebenzi we-enzyme acid alpha-glucosidase kwiiseli zesikhumba ezikhuliswe. Kubantu abadala, ukuhlolwa kwegazi kungasetyenziselwa ukunciphisa ukunciphisa okanye ukungabikho kwe-enzyme.
Unyango
Umntu onesifo sePompe uya kufuna uncedo oluthile lwezonyango ezivela kwii-geneticists, iingcali zeemetriki kunye neurologists. Abantu abaninzi bafumana ukutya okuninzi-protein kukunceda, kunye nokusetyenziswa ngokubanzi kwansuku zonke.
Uvavanyo oluqhelekileyo lwezonyango luyimfuneko njengoko eso sifo siyaqhubeka.
Ngo-2006, i-European Medicines Agency (EMEA) kunye ne-US Food and Drug Administration (FDA) bobabini banikezelwa imvume yokuthengisa i-Myozyme ukunyanga i-Pompe disease. Ngo-2010, iLumizyme yavunywa. I-Myozyme iigulane ezingaphantsi kweminyaka engama-8 ubudala ngelixa i-Lumizyme ivunyiwe kubantu abaneminyaka engaphezu kwe-8. Bobabini iziyobisi zithatha indawo ye-enzyme ekhoyo, ngoko ke kunceda ukunciphisa iimpawu zalo mqathango. Bobabini i-Myozyme kunye neLumizyme zihanjiswa ngaphakathi ngeveki ezimbini.
Imithombo:
Ubume bePompe DiseasePompe Community. 2005. Genzyme Corporation.
I-AMD - Acid Deficiency Deficiency - I-Pompe Disease. Ngo-1997. Umbutho weMaltase Defence Association.
Inhlangano kaZwelonke yeziZwe eziPhezulu (iNORD). I-Pompe Disease (2013).