Usenokuba uqaphele ukuba umntwana wakho omncinci ubonakala ediniwe kancinci kunabanye abantwana, unobunzima bokubamba intamo yakhe ngokuthe tye, okanye utyeba kancinci. Okanye, njengomntu omdala, ngaba uziva udiniwe ngendlela engaqhelekanga kwaye unesiyezi xa unyuka izinyuko okanye uhamba imigama emifutshane? Isizathu sale meko sisenokuba yimeko engaqhelekanga ongazange uyive. Yiyo kanye le nto sithetha ngayo namhlanje.
Ngamafutshane, yintoni iPompe Disease?
Cinga ngemizimba yethu njengomzi-mveliso omkhulu. Lo mzi-mveliso ufuna abasebenzi abahlukeneyo (iiproteni/ ii-enzyme ) ukuze usebenze. Isifo sePompe senzeka xa omnye wabasebenzi (iproteni ethile) oqhekeza i-glycogen , uhlobo lweswekile emzimbeni wethu, kwaye uvelise amandla engekho okanye engasebenzi kakuhle.
Ngoku ekubeni lo msebenzi engasekho, endaweni yokuba aguqulwe abe ngamandla, olo hlobo lweswekile olubizwa ngokuba yi-glycogen luqala ukuqokelelana ngaphakathi kwiiseli zomzimba wethu, ngakumbi kwiindawo ezifana nezihlunu, intliziyo , nesibindi . Kufana nezinto eziluhlaza eziqokelelana kumzi-mveliso. Oku kuqokelelana kwe-glycogen konakalisa ezo zitho zomzimba kwaye kunciphisa ukusebenza kwazo.
Esi sifo sikwabizwa ngokuba yi-'GAA deficiency' okanye 'type II glycogen storage disease ( GSD )'.
Yintoni ebangela esi sifo?
Isifo sikaPompe sisifo esibangelwa lufuzo . Oku kuthetha ukuba sisifumana kubazali bethu. Nangona kunjalo, ukuze ukhule esi sifo, kufuneka ufumane i-gene enesiphene sesifo kumama nakutata wakho .
Ukuba umntu ufumana i-gene enye enesiphako, akayi kubonisa zimpawu zesifo. Kodwa uya kuba ngumthwali wesifo. Oku kuthetha ukuba angadlulisela i-gene enesiphene kubantwana bakhe.
Zithini iimpawu zesi sifo?
Iimpawu zesi sifo, ubudala bokuqala kwaso, kunye nobunzima baso zinokwahluka kakhulu kumntu nomntu. Zinokwahlulwa zibe ziindidi ezimbini eziphambili.
| Ixesha lokuqala kwesifo | Iimpawu eziqhelekileyo |
|---|---|
| Uhlobo lokuqalisa kosana (Ukususela kwiinyanga ezimbalwa ukuya kunyaka) |
|
| Uhlobo lokuqalisa emva kwexesha (Kuyo nayiphi na iminyaka, ukususela ebuntwaneni ukuya ekwaluphaleni) |
|
Indlela yokuxilonga ngokuchanekileyo isifo?
Ngenxa yokuba ezi mpawu zihlala zifana nezezinye iimeko, ukuxilongwa kunokuba nzima kancinci. Ugqirha wakho unokubuza imibuzo efana nale ukuze akuncede uqonde imeko:
- Ngaba uziva ubuthathaka, usoloko uwa, okanye unengxaki yokuhamba, ukubaleka, okanye ukunyuka izinyuko?
- Ngaba unengxaki yokuphefumla, ingakumbi ebusuku okanye xa ulele?
- Ingaba uneentloko ezibuhlungu xa uvuka kusasa?
- Ngaba uziva udiniwe kakhulu imini yonke?
- Ngaba kukho umntu oye waba nezi mpawu kusapho lwakho?
Ukongeza kule mibuzo, ezinye iimvavanyo zinokwenziwa ukuze kuthintelwe ezinye iimeko zempilo. Ukuba kurhanelwa ukuba isifo sikaPompe sinesifo, ezi vavanyo zenziwa ukuqinisekisa ukuxilongwa:
- Uvavanyo lwegazi: Oku kujonga ukuba iproteni (i-enzyme) enganelanga isebenza kakuhle kangakanani na.
- I-Biopsy yeMisipha: Kuthathwa iqhekeza elincinci lemisipha lize lihlolwe nge-microscope ukuze kubonwe ukuba ingakanani i-glycogen egcinwe kuyo.
- Uvavanyo lweMfuzo:Bakhangela ngokuthe ngqo isiphene semfuza esibangela esi sifo.
Eyona nto ibalulekileyo kukuba kungathatha ixesha ukuxilonga esi sifo. Kungathatha iinyanga nje ezi-3 kumntwana, kwaye kuthathe iminyaka eyi-7-9 kumntu omdala. Ngoko ke kubalulekile ukuba nomonde.
Zithini iindlela zonyango?
Nangona okwangoku kungekho nyango lwesi sifo, kukho unyango olusebenzayo kakhulu olunokulawula iimpawu kwaye lwandise ubomi. Kubaluleke kakhulu ukuqala unyango kwangethuba , ngakumbi kwiintsana.
Unyango oluphambili yi -Enzyme Replacement Therapy (ERT) . Ngamafutshane, oku kuquka ukunika umzimba i-enzyme (iproteni) engekhoyo okanye engaphelelanga emzimbeni ngenaliti. Nje ukuba le naliti ifunyenwe, umzimba uyakwazi ukuqhekeza i-glycogen yeswekile. Amanye amayeza asetyenziselwa oku ngala:
- `Myozyme` (idla ngokuba yeyabantwana abancinci)
- `Lumizyme`
- `Nexviazyme` (yohlobo lokuqalisa kade)
Ukongeza, kukho unyango olutsha oluvunyiweyo kubantu abadala abangasabeli kakuhle kunyango lwe-ERT. Lusebenzisa indibaniselwano yamayeza amabini athathwa njengenaliti (`Pombiliti`) kunye neekhaphu (`Opfolda`).
Izinto ekufuneka uziqwalasele xa uphila nesi sifo
Ukuphila nesifo sikaPompe kunokuba nzima, ngoko ke kubalulekile ukufumana inkxaso kuwe nakwintsapho yakho. Ungajoyina amaqela enkxaso apho abanye abantu abanesifo banokwabelana ngamava kwaye bafumane iingcebiso ezisebenzayo.
Umzekelo, ukuba ukutya kunzima ukuginya, izinto zokutyebisa zingongezwa ekutyeni. Abanye abantu banokufuna ukunikwa ukutya ngetyhubhu yokondla ukuze bafumane izondlo abazidingayo.
Ngenxa yokuba esi sifo sichaphazela amalungu amaninzi omzimba, udinga inkxaso yeqela loogqirha abaziingcali.
- Ingcali yentliziyo
- Ingcali yezifo zengqondo
- Ingcali yokuphefumla
- Ingcali yesondlo
Kungenkxaso yomntu wonke ukuba sikwazi ukulawula iimpawu size sihlale siphilile.
Umyalezo Wokuya Ekhaya
- Isifo sikaPompe sisifo esidluliselwa kwimfuza kubazali.
- Iimpawu eziphambili kubuthathaka bemisipha kunye nobunzima bokuphefumla.
- Esi sifo sinokuzibonakalisa ngeendlela ezimbini: ebuntwaneni nasebudaleni.
- Ngokufumanisa isifo kwangethuba kangangoko kunokwenzeka nokuqalisa unyango lokutshintshwa kweeenzyme (ERT), umonakalo obangelwe sisifo ungancitshiswa.
- Ukuba wena okanye umntwana wakho ninamathandabuzo ngezi mpawu, bonana nogqirha ngokukhawuleza kwaye nicele ingcebiso.
💬 Comments (0)
Akukho zimvo zithunyelweyo okwangoku. Faka uluvo lwakho apha okokuqala.
Faka uluvo lwakho