Uke wezwa ngesifo iPompe? Ake sixoxe ngakho ngokuningiliziwe!

Wake wezwa ngesifo esinegama elingajwayelekile elibizwa ngokuthi i-Pompe Disease? Mhlawumbe leli gama lisha kuwe. Empeleni lokhu kuyinto engavamile, okusho ukuthi akusona isifo esithinta wonke umuntu. Kodwa kubaluleke kakhulu ukwazi ngaso, ngoba kuyisimo sofuzo, okusho ukuthi sidluliselwa ezizukulwaneni ngezizukulwane. Lokhu kubangela uhlobo lukashukela olubizwa ngokuthi `(glycogen)` ukuthi luqoqeke emaseli emizimba yethu. Ngakho-ke, namuhla sizokhuluma nje ngokuthi siyini lesi sifo se-Pompe, ukuthi sikhula kanjani, yiziphi izimpawu, nokuthi kukhona yini ukwelashwa.

Kuyini isifo sikaPompe?

Kalula nje, isifo sePompe yisimo sofuzo esiyingxenye yeqembu lezifo zokugcina i-glycogen. Umzimba wethu une-enzyme ebizwa ngokuthi `(acid alpha-glucosidase)` noma `(GAA)`. Le enzyme iphula ushukela oyinkimbinkimbi `(glycogen)` emzimbeni wethu, okungukuthi, iyawugaya, futhi isize ekukhiqizeni amandla. Ngakho-ke, umuntu onesifo sePompe akakhiqizi le enzyme `(GAA)` ngendlela efanele, noma akanayo kakhulu.

Kwenzekani-ke? Lolo hlobo lukashukela olubizwa ngokuthi `(glycogen)` aluqhekeki kahle futhi luqongelela ezindaweni ezincane ezibizwa ngokuthi `(lysosomes)` ngaphakathi kwamaseli omzimba. Cabanga ngalo njengebhodlela likadoti, uma udoti ungasuswa, uzogcwala. Lawa `(lysosomes)` yizindawo lapho izinto ezingaphakathi kwamaseli ethu ziphinde zisetshenziswe khona, okungukuthi, zenziwe ukuze ziphinde zisetshenziswe. Ngakho-ke, ngenxa yokuthi le enzyme `(GAA)` ayisebenzi kahle, `(glycogen)` igcwala ngaphakathi kwalawa `(lysosomes). Ngale ndlela, `(glycogen)` iqongelela kakhulu emisipheni yenhliziyo yethu kanye nasemisipheni yamathambo. Uma iqongelela kanjalo, lezo zitho zomzimba ziyalimala futhi kancane kancane ziqala ukuba buthaka.

Lesi sifo sibizwa nangokuthi:

• `(Isifo sikaPompe)` (Isifo sikaPompe)
• `(Ukuntuleka kwe-asidi maltase)` (Ukuntuleka kwe-asidi maltase)
• `(Isifo sokugcina i-Glycogen uhlobo II (GSD2))` (Isifo sokugcina i-Glycogen - uhlobo II)

Yiziphi izinhlobo eziyinhloko zesifo sePompe?

Isifo se-Pompe sihlukaniswe kakhulu ngezinhlobo ezimbili, kuye ngokuthi siqala nini kanye nobunzima bezimpawu.

Isifo sePompe esiqala ezinganeni

Lolu uhlobo olubi kakhulu lwesifo sePompe. Lesi simo senzeka lapho i-enzyme (i-acid alpha-glucosidase (GAA)) ingekho nhlobo noma ikhona kuphela ngamanani amancane kakhulu. Ngezinye izikhathi, ingane ingase ingakhombisi zimpawu lapho izalwa. Kodwa-ke, izimpawu zivame ukuqala ukuvela phakathi nonyaka wokuqala wokuphila, ngokuvamile cishe ezinyangeni ezine ubudala.

Lezi zingane zinobuthakathaka obukhulu bemisipha , isibindi esikhulu, kanye nenhliziyo ekhulile ngenxa yobuthakathaka bemisipha yenhliziyo (cardiomyopathy). Lesi sifo siqhubeka kakhulu. Uma singelashwa kahle, lezi zingane zingafa ngenxa yokwehluleka kwenhliziyo noma ukwehluleka kokuphefumula kungakapheli unyaka noma emibili. Lesi yisimo esidabukisayo kakhulu.

Isifo sePompe esiqala ngasekupheleni

Lolu hlobo lwesifo sePompe lungavela kunoma yimuphi ubudala. Lungavela ngaphambi konyaka, kodwa ngaphandle kokuba inhliziyo ikhule (okuyisici esihlukanisayo kulesi sifo ebuntwaneni), noma lungavela ebuntwaneni, ebusheni, noma ngisho nasebudaleni. Laba bantu banezinga eliphansi le-enzyme ``(GAA)``, kodwa hhayi eliphansi njengasezinsaneni.

Lolu hlobo luvame ukuba luthambile futhi lungabi lubi kakhulu kunesimo sobuntwana, kodwa kuncike eminyakeni lapho izimpawu ziqala khona. Izingane ezithola izimpawu ngesikhathi sobuntwana zingase zibe nomphumela onzima kakhulu.

Uphawu oluyinhloko ubuthakathaka bemisipha (`(myopathy)`). Lokhu kungabangela ubunzima bokuphefumula. Kodwa-ke, inhliziyo cishe ayithinteki. Uma ingelashwa, izinkinga zokuphefumula zingaholela ekufeni.

Sivame kangakanani isifo sikaPompe?

Isifo i-Pompe empeleni siyisifo esingavamile kakhulu esibangelwa izakhi zofuzo . Isibonelo, e-United States, lesi sifo sitholakala cishe kubantu abangu-40,000. ESri Lanka, kunzima ukuthola izibalo eziqondile ngalokhu, kodwa kusobala ukuthi lesi yisifo esingavamile.

Ziyini izimpawu zesifo sikaPompe?

Uphawu oluyinhloko lwesifo sePompe ubuthakathaka bemisipha obuqhubekayo , ikakhulukazi ezinqeni, emilenzeni, emahlombe, ezingalweni, kanye nase-diaphragm, imisipha emikhulu ephakathi kwesifuba nesisu.

Izimpawu zikaPompe ebuntwaneni:

• Imisipha ingase iqine, ingabi namandla (hypotonia). Umzimba ungase ubonakale ubuthakathaka, njengo-"baby's limp".
• Ukwanda kwenhliziyo (`(cardiomegaly)`)
• Isibindi esikhulu (`(i-hepatomegaly)`)
• Ulimi olukhulu (i-macroglossia)
• Ukwehluleka ukukhula kahle ('ukwehluleka ukukhula kahle'). Lokhu kusho ukuthi ingane ayikhuli kahle noma ayikhuli kahle.
• Ubunzima bokuphefumula.
• Ubunzima bokudla nokuphuza ubisi.
• Izifo zokuphefumula ezivame ukwenzeka (isb. i-pneumonia).
• Ukukhubazeka kokuzwa.

Izimpawu zokuphuza ukuqala kukaPompe:

Lezi zimpawu zingase zibe zincane futhi zibe zimbi kakhulu ngokuhamba kwesikhathi. Kodwa-ke, zingabangela nobuthakathaka obukhulu kanye nokucindezeleka kokuphefumula.

• Ubuthakathaka kancane kancane kwemisipha emilenzeni nasesiqwini.
• Ubunzima bokuhamba, ukuwa njalo.
• Ubuhlungu ezingxenyeni ezahlukene zomzimba, ikakhulukazi emisipheni.
• Ukulahlekelwa ikhono lokuzivocavoca, ukugijima, nokugxuma.
• Izifo zokuphefumula ezivame ukwenzeka.
• Ubunzima bokuphefumula (ukuphelelwa umoya) uma ukhathele kancane.
• Ikhanda elibuhlungu ekuseni.
• Ukuzizwa ukhathele kakhulu emini.
• Ukwehlisa isisindo ngokungahlosiwe.
• Ubunzima bokugwinya ukudla (i-dysphagia).
• Ukungalingani kwesigqi senhliziyo (`(arrhythmia)`).
• Ukwehla kancane kancane kwekhono lokuzwa.

Ziyini izimbangela zesifo sikaPompe?

Isifo se-Pompe sibangelwa izinguquko ku-gene `(GAA)`. Le gene `(GAA)` inesibopho sokukhiqiza i-enzyme `(acid alpha-glucosidase)` okukhulunywe ngayo ngaphambili. Le enzyme iphula ushukela oyinkimbinkimbi `(glycogen)`.

Ngokuvamile, imizimba yethu iguqula le `(glycogen)` ibe `(glucose)`, esetshenziselwa amandla. I-enzyme `(Acid alpha-glucosidase)` isebenza ezindaweni ezibizwa ngokuthi `(lysosomes)` ngaphakathi kwamaseli ethu. Cabanga ngalawa `(lysosomes)` njengezikhungo zokuvuselela kabusha emaseli ethu. Ama-enzyme aphula izinto ezahlukahlukene futhi aziqondise ekwenzeni umsebenzi omusha womzimba, isibonelo, ukunikeza amandla.

Ngakho-ke, uma unesifo se-Pompe, ukuguquka kwezakhi zofuzo ze-`(GAA)` kubangela ukuthi ukukhiqizwa kwe-enzyme `(acid alpha-glucosidase)` kunciphe noma kungabikho nhlobo. Ngaphandle kwale enzyme, umzimba wakho awukwazi ukuwohloka `(glycogen)` ngendlela efanele. Ngemuva kwalokho `(glycogen)` iqoqana kulawo `(lysosomes)`, okubangela ukulimala okukhulu kwemisipha. Lesi yisona sizathu esiyinhloko sezimpawu.

Lesi sifo sizuzwe njengefa ngendlela yokubuyisa i-autosomal. Lokhu kusho ukuthi bobabili abazali bakho kumele badlulisele kuwe isakhi sofuzo esiguquliwe. Ngokuvamile, abazali bangabathwali besifo kuphela, okusho ukuthi ababonisi zimpawu. Kodwa banaso isakhi sofuzo esiguquliwe.

Yiziphi izinkinga zesifo sikaPompe?

Uma singelashwa, isifo sikaPompe, esiqala ebuntwaneni, singaba yingozi ebuntwaneni. Abantu abaningi abanesifo sikaPompe baba nezinkinga zokuphefumula nezenhliziyo. Cishe bonke abaguli baba nobuthakathaka bemisipha. Ngesinye isikhathi empilweni yabo, abantu abaningi bangadinga ukwesekwa komoya-mpilo kanye namadivayisi okusiza ezintweni ezifana nokuhamba.

Isifo sikaPompe sitholakala kanjani?

Udokotela wakho uzoqala akuhlole ngokomzimba bese ebuza ngomlando wezokwelapha womndeni wakho. Ngemuva kwalokho, bazothatha isampula yegazi bese behlola i-enzyme ebizwa ngokuthi ``creatine kinase``. Lokhu kungasiza ekunqumeni ukuthi umonakalo wemisipha wenzekile yini. Ukuhlolwa okuqondile kakhulu ukukala umsebenzi we-enzyme ``(GAA)`` egazini lakho. Ungaphinde ube nokuhlolwa ``kofuzo`` noma ukuhlolwa kofuzo ukuze ufunde i-gene ``(GAA)``` emzimbeni wakho.

Ngaphezu kwalokho, kungenziwa izivivinyo ezilandelayo:

• Ukuhlolwa kokusebenza kwamaphaphu : Lokhu kulinganisa amandla amaphaphu.
• I-Electromyography (EMG) : Lokhu kulinganisa ukuthi imisipha yakho isebenza kahle kangakanani.
• Ukuhlolwa kwenhliziyo : Lokhu kungafaka phakathi ukuhlolwa okufana ne-electrocardiogram (EKG) kanye ne-echocardiogram (echo).
• Izifundo zokulala : Lezi zivivinyo ziqopha imisebenzi ethile yomzimba ngesikhathi ulele.

Isifo sikaPompe siphathwa kanjani?

Ukwelashwa okuyinhloko kwesifo sikaPompe yilokhuUkwelashwa Kokufaka I-Enzyme (ERT). Kulokhu, udokotela wakho ukunika omunye wemithi elandelayo ngemithambo yegazi:

• `(Alglucosidase alfa)`
• `(Avalglucosidase alfa)`

Le mithi iyi-enzymes eyakhiwe ngofuzo esebenza njengama-enzyme atholakala ngokwemvelo emizimbeni yethu. Lokhu kwelashwa:

• Kusiza ukunciphisa ubukhulu benhliziyo.
• Kusiza ukugcina ukusebenza kwenhliziyo okuvamile.
• Kuyasiza ekuthuthukiseni ukusebenza kwemisipha, amandla, nokuqina, noma kubambezele ukuqhubeka kwesifo.
• Kunciphisa inani le-glycogen egcinwe emzimbeni.

Ngaphezu kwalokho, ithimba lochwepheshe lizokwelapha izimpawu zakho futhi linikeze ukunakekelwa okudingekayo. Leli thimba lingafaka:

• Abelaphi bomzimba, abelaphi bomsebenzi, kanye nabelaphi bokuphefumula
• Odokotela benhliziyo
• Odokotela bezinzwa

Kuye ngobukhulu besimo sakho, ungadinga:

• Ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi.
• Ithubhu yokondla (`(ithubhu yokondla)`).
• Ukusekelwa kokuphefumula kokwenziwa (`(umoya womshini)`).

Ososayensi okwamanje benza izivivinyo zemitholampilo zokwelapha izakhi zofuzo zesifo sePompe. Ukwelapha izakhi zofuzo kuhilela ukufaka izakhi zofuzo ezonakele esikhundleni sazo ezinempilo. Lokhu kuvumela umzimba wakho ukuthi ukhiqize i-enzyme acid alpha-glucosidase ngendlela efanele. Leli ithemba elikhulu lesikhathi esizayo.

Ingabe isifo sikaPompe singavinjelwa?

Isifo se-Pompe siyisimo sofuzo, ngakho-ke asinakuvinjelwa . Kodwa-ke, uma ukhulelwe noma uhlela ukukhulelwa, kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo . Lokhu kuzokusiza ukuthi ufunde kabanzi ngalokhu futhi, uma kudingeka, uhlolwe.

Injani impilo yomuntu onesifo iPompe?

Uma lesi sifo singatholakali futhi singalashwa kusenesikhathi, izingane ezinesifo iPompe zisencane zivame ukufa zisencane ngenxa yokucindezeleka kokuphefumula noma ukwehluleka kwenhliziyo.

Abantu abanesifo sePompe esiqala ngasekupheleni bangaphila isikhathi eside ngoba lesi sifo siqhubeka kancane. Kodwa-ke, lokhu kuncike eminyakeni lapho izimpawu ziqala khona kanye nobunzima besifo. Ngokuvamile, lapho izimpawu ziqala khona zindala, lesi sifo siqhubeka kancane.

Kufanele ubonane nini nodokotela?

Uma wena noma ingane yakho ninezimpawu zesifo iPompe, kufanele nibone udokotela ngokushesha . Ukuxilongwa kusenesikhathi kungathuthukisa kakhulu izinga lempilo yezingane kanye nabantu abadala abanalesi sifo.

Mina noma ingane yami singazinakekela kanjani ngalesi simo?

Uma wena noma ingane yakho ninesifo iPompe, cabanga ngokukhuluma nodokotela wengqondo. Udokotela wengqondo angakusiza ukuthi uqonde lesi simo kangcono futhi akusize ubhekane kangcono naso. Kukhona namaqembu okusekelana lapho ungahlangana khona nabanye abantu ababhekene nezimo ezifanayo futhi wabelane ngolwazi.

Ngokuvamile, abanakekeli bangaba nokukhathala noma ukucindezeleka ngokweqile (ukukhathala noma ukukhathala komnakekeli). Lokhu kuvamile, kodwa kubalulekile ukuzinakekela wena kanye nengane yakho.

Yini okufanele ngiyibuze odokotela ngesifo sikaPompe?

Uma wena noma ingane yakho nitholakala ninesifo iPompe, ungase ufune ukubuza udokotela wakho imibuzo efana nale:

• Uhlobo luni lwesifo sePompe ingane yami enalo?
• Yini ongangitshela yona ngempilo yengane yami?
• Hlobo luni lochwepheshe esizodingeka sibabone?
• Kukangaki ngidinga ukubona laba ochwepheshe?
• Yini engingayenza ukuze ngigcine ingane yami ikhululekile?
• Ingabe kuwumqondo omuhle ukwenza ukuhlolwa kofuzo kwamanye amalungu omndeni?
• Ngingafunda kanjani ukuphila kahle nesifo sikaPompe?

Uma wena noma ingane yakho ninesifo iPompe, buza udokotela wakho mayelana nokujoyina iqembu lokusekelana. Ukwabelana ngolwazi lwakho nokufunda kwabanye kungaba usizo kakhulu futhi kududuze. Khumbula, awuwedwa. Nakuba kungekho ikhambi lesifo iPompe, ososayensi bayaqhubeka nokucwaninga izindlela zokwelapha. Odokotela bafunda imithi eminingana ephumelelayo engasiza ekulawuleni ukusabalala kwezimpawu futhi ithuthukise ikhwalithi yokuphila kwengane yakho.

Umlayezo Wokuya Nawe Ekhaya

Ekuphetheni, isifo iPompe siyisifo esingavamile, esibangelwa izakhi zofuzo. Sibangela kakhulu ubuthakathaka bemisipha. Kunezinhlobo ezimbili, uhlobo lokuqala kosana kanye nohlobo lokuqala sekwephuzile. Ukuxilongwa nokwelashwa kusenesikhathi, njenge-Enzyme Replacement Therapy (ERT), kubaluleke kakhulu. Abantu abaphila nalesi sifo kanye nemindeni yabo bangazuza kakhulu ekusekelweni kwengqondo kanye namaqembu okusekela. Njengoba ucwaningo ngemithi emisha luqhubeka, kunethemba ngekusasa. Uma unemibuzo ngalokhu, ungangabazi ukukhuluma nodokotela.

Isifo sePompe , isifo sokugcina i-glycogen, i-acid alpha-glucosidase, i-GAA enzyme, ubuthakathaka bemisipha, ukwelashwa kokushintsha ama-enzyme, ukuphazamiseka kwezakhi zofuzo, i-Pompe yokuzalwa kosana, i-Pompe yokuzalwa sekwephuzile, isifo sokugcina i-lysosomal