Ngaba ukhe weva ngesifo sikaPompe? Makhe sithethe ngaso ngokweenkcukacha!

Ngaba wakha weva ngesifo esinegama elingaqhelekanga elibizwa ngokuba yiPompe Disease? Mhlawumbi eli gama litsha kuwe. Oku kunqabile kancinci, oko kuthetha ukuba asisosifo esichaphazela wonke umntu. Kodwa kubaluleke kakhulu ukwazi ngaso, kuba sisifo semfuza, oko kuthetha ukuba sidluliselwa kwizizukulwana ngezizukulwana. Oku kubangela uhlobo lweswekile olubizwa ngokuba yi-`(glycogen)` ukuba luqokelele kwiiseli zomzimba wethu. Ke, namhlanje siza kuthetha ngokulula malunga nokuba siyintoni esi sifo sePompe, indlela esikhula ngayo, zithini iimpawu, kwaye ngaba kukho unyango.

Yintoni iPompe Disease?

Ngamafutshane, isifo sePompe sisifo semfuza esikwiqela lezifo zokugcina iglycogen. Umzimba wethu une-enzyme ebizwa ngokuba yi-`(acid alpha-glucosidase)` okanye `(GAA)`. Le enzyme iqhekeza iswekile eyinkimbinkimbi `(glycogen)` emzimbeni wethu, oko kukuthi, iyayigaya, kwaye inceda ekuveliseni amandla. Ngoko ke, umntu onesifo sePompe akayivelisi kakuhle le enzyme `(GAA)`, okanye akanayo ininzi kakhulu.

Kwenzeka ntoni ke ngoko? Olu hlobo lweswekile olubizwa ngokuba yi-`(glycogen)` aluqhekeki kakuhle kwaye luqokelelana kwiindawo ezincinci ezibizwa ngokuba yi-`(lysosomes)` ngaphakathi kweeseli zomzimba. Cinga ngayo njengesitya senkunkuma, ukuba inkunkuma ayisuswa, iya kuzaliswa. Ezi `(lysosomes)` ziindawo apho izinto ezingaphakathi kweeseli zethu ziphinda zisetyenziswe, oko kukuthi, zenziwe ukuze zisetyenziswe kwakhona. Ngoko ke, ngenxa yokuba le enzyme ye-`(GAA)` ayisebenzi kakuhle, i-`(glycogen)` izaliswa ngaphakathi kwezi `(lysosomes). Ngale ndlela, i-`(glycogen)` iqokelelana kakhulu kwimisipha yentliziyo yethu nakwimisipha yamathambo. Xa iqokelelana ngolo hlobo, ezo zitho zonakaliswa kwaye ziqala ukuba buthathaka kancinci kancinci.

Esi sifo sikwabizwa ngokuba:

• `(Isifo sikaPompe)` (Isifo sikaPompe)
• `(Ukunqongophala kwe-asidi ye-maltase)` (Ukunqongophala kwe-asidi ye-maltase)
• `(Isifo sokugcina iGlycogen uhlobo II (GSD2))` (Isifo sokugcina iGlycogen - uhlobo II)

Ziziphi iintlobo eziphambili zesifo sePompe?

Isifo sePompe sahlulwe kakhulu saba ziintlobo ezimbini, kuxhomekeke kwiminyaka yokuqala kwanobunzima beempawu.

Isifo sePompe esiqala kubantwana abancinci

Olu lolona hlobo lubi kakhulu lwesifo sePompe. Le meko yenzeka xa i-enzyme (i-acid alpha-glucosidase (GAA)) ingekho kwaphela okanye ikhona kuphela ngamanani amancinci kakhulu. Ngamanye amaxesha, umntwana usenokungabonakalisi zimpawu xa ezalwa. Nangona kunjalo, iimpawu zihlala ziqala ukubonakala kunyaka wokuqala wobomi, zihlala malunga neenyanga ezi-4 ubudala.

Aba bantwana banobuthathaka obukhulu bemisipha , isibindi esikhulu, kunye nentliziyo enkulu ngenxa yokuba buthathaka kwemisipha yentliziyo (cardiomyopathy). Esi sifo siyaqhubeka kakhulu. Ukuba asinyangwa ngokufanelekileyo, aba bantwana banokufa ngenxa yokusilela kwentliziyo okanye ukusilela kokuphefumla kungekapheli unyaka okanye emibini. Le yimeko ebuhlungu kakhulu.

Isifo sePompe esiqala emva kwexesha

Olu hlobo lwesifo sePompe lunokubakho nakweyiphi na iminyaka. Lunokuvela ngaphambi konyaka, kodwa ngaphandle kokuba intliziyo ikhule (nto leyo ebonakala ingaqhelekanga kwesi sifo ebuntwaneni), okanye lunokuvela ebuntwaneni, ebusheni, okanye nasebudaleni. Aba bantu banezinga eliphantsi le-enzyme ``(GAA)``, kodwa alikho phantsi njengakwiintsana.

Olu hlobo ludla ngokuba buthathaka kwaye lungabi bukhali kangako kunesimo sosana, kodwa kuxhomekeke kwiminyaka apho iimpawu ziqala khona. Abantwana abafumana iimpawu ngexesha lobuntwana banokuba nenkqubela enzima ngakumbi.

Uphawu oluphambili kubuthathaka bemisipha (`(myopathy)`). Oku kunokubangela ubunzima bokuphefumla. Nangona kunjalo, intliziyo ayinakuchaphazeleka kakhulu. Ukuba ayinyangwa, iingxaki zokuphefumla zinokukhokelela ekufeni.

Ixhaphake kangakanani isifo sikaPompe?

Isifo sikaPompe sisifo esingaqhelekanga kakhulu esibangelwa lufuzo . Umzekelo, eMelika, esi sifo sivela kumntu omnye kwabangama-40,000. ESri Lanka, kunzima ukufumana iinkcukacha-manani ezichanekileyo ngale nto, kodwa kuyacaca ukuba esi sisifo esingaqhelekanga.

Zithini iimpawu zesifo sikaPompe?

Uphawu oluphambili lwesifo sikaPompe kubuthathaka bemisipha obuqhubekayo , ingakumbi ezinqeni, emilenzeni, emagxeni, ezingalweni, nakwidiaphragm, umsipha omkhulu ophakathi kwesifuba nesisu.

Iimpawu zikaPompe ebuntwaneni:

• Izihlunu zisenokutyhafa, zingabi namandla (hypotonia). Umzimba ungabonakala utyhafa, ngathi "yintshontsho lomntwana".
• Ukwanda kwentliziyo (`(cardiomegaly)`)
• Isibindi esikhulu (`(i-hepatomegaly)`)
• Ulwimi olukhulu (macroglossia)
• Ukungaphumeleli ukukhula ('ukungaphumeleli ukukhula'). Oku kuthetha ukuba umntwana akatyebi kakuhle okanye akakhuli mde.
• Ubunzima bokuphefumla.
• Ubunzima bokutya nokusela ubisi.
• Izifo zokuphefumla ezixhaphakileyo (umz. i-pneumonia).
• Ukuphazamiseka kokuva.

Iimpawu zokulibaziseka kokuqala kukaPompe:

Ezi mpawu zisenokuba zincinci kwaye ziya zisiba mbi ngokuhamba kwexesha. Nangona kunjalo, zinokubangela ubuthathaka obukhulu kunye noxinzelelo lokuphefumla.

• Ukubuthathaka kancinci kancinci kwemisipha emilenzeni nasesiqwini.
• Ubunzima bokuhamba, ukuwa rhoqo.
• Intlungu kwiindawo ezahlukeneyo zomzimba, ingakumbi kwimisipha.
• Ukulahlekelwa yikhono lokuzilolonga, ukubaleka, nokutsiba.
• Iintsholongwane zokuphefumla ezixhaphakileyo.
• Ubunzima bokuphefumla (ukuphelelwa ngamandla) xa udiniwe kancinci.
• Intloko ebuhlungu kusasa.
• Ndiziva ndidiniwe kakhulu emini.
• Ukunciphisa umzimba ngengozi.
• Ubunzima bokuginya ukutya (dysphagia).
• Ukungahambi kakuhle kwesingqisho sentliziyo (`(arrhythmia)`).
• Ukuhla kancinci kancinci kwindlela yokuva.

Zithini izizathu zesifo sikaPompe?

Isifo sePompe sibangelwa kukuguquka kwezakhi zofuzo (GAA)`. Le `(GAA)` gene inoxanduva lokuvelisa i-enzyme `(acid alpha-glucosidase)` ekhankanyiweyo ngaphambili. Le enzyme iqhekeza iswekile entsonkothileyo `(glycogen)`.

Ngokwesiqhelo, imizimba yethu iguqula le `(glycogen)` ibe yi`(glucose)`, esetyenziselwa amandla. I-enzyme `(Acid alpha-glucosidase)` isebenza kwiindawo ezibizwa ngokuba yi`(lysosomes)` ngaphakathi kweeseli zethu. Cinga ngezi `(lysosomes)` njengeziko lokuphinda usebenzise iiseli zethu. Ii-enzyme ziqhekeza izinto ezahlukeneyo kwaye ziziyalele ukuba zenze umsebenzi omtsha emzimbeni, umzekelo, ukubonelela ngamandla.

Ngoko ke, ukuba unesifo sePompe, utshintsho kwi-gene ye-`(GAA)` lubangela ukuba ukuveliswa kwe-enzyme `(acid alpha-glucosidase)` kunciphe okanye kungabikho kwaphela. Ngaphandle kwale enzyme, umzimba wakho awunakukwazi ukuwohloka `(glycogen)` ngokufanelekileyo. Emva koko i-`(glycogen)` iqokelelana kwezo `(lysosomes)`, nto leyo ebangela umonakalo omkhulu kwimisipha. Esi sesona sizathu siphambili seempawu.

Esi sifo sizuzwe njengelifa ngendlela yokubuyela kwimo ye-autosomal. Oku kuthetha ukuba bobabini abazali bakho kufuneka badlulisele kuwe i-gene eguquliweyo. Ngokwesiqhelo, abazali bangabathwali besifo kuphela, oko kuthetha ukuba ababonisi zimpawu. Kodwa banayo i-gene eguquliweyo.

Ziziphi iingxaki zesifo sikaPompe?

Ukuba asinyangwa, isifo sikaPompe, esiqala ebuntwaneni, sinokubulala ebuntwaneni. Abantu abaninzi abanesifo sikaPompe baba neengxaki zokuphefumla nezentliziyo. Phantse bonke abaguli baba buthathaka bemisipha. Ngexesha elithile ebomini babo, abantu abaninzi banokufuna inkxaso yeoksijini kunye nezixhobo zokuncedisa kwizinto ezifana nokuhamba.

Isifo sikaPompe sifunyanwa njani?

Ugqirha wakho uza kuqala akuhlole ngokwasemzimbeni aze akubuze ngembali yezonyango yosapho lwakho. Emva koko, baza kuthatha isampuli yegazi baze bavavanye i-enzyme ebizwa ngokuba yi-``creatine kinase``. Oku kunokunceda ekuqinisekiseni ukuba kukho umonakalo kwizihlunu. Uvavanyo olucacileyo ngakumbi kukulinganisa umsebenzi we-enzyme ``(GAA)`` egazini lakho. Ungafumana novavanyo lwe-``genetic`` okanye uvavanyo lwe-genetic`` ukuze ufunde i-``(GAA)``` gene emzimbeni wakho.

Ukongeza, kunokwenziwa ezi mvavanyo zilandelayo:

• Uvavanyo lomsebenzi wemiphunga : Olu lulinganisa umthamo wemiphunga.
• I-Electromyography (EMG) : Le yindlela elinganisa ngayo ukusebenza kakuhle kwezihlunu zakho.
• Uvavanyo lwentliziyo : Oku kungabandakanya uvavanyo olufana ne-electrocardiogram (EKG) kunye ne-echocardiogram (echo).
• Izifundo zokulala : Ezi mvavanyo zirekhoda imisebenzi ethile yomzimba ngelixa ulele.

Isifo sikaPompe sinyangwa njani?

Unyango oluphambili lwesifo sikaPompeUnyango Lokutshintshwa Kwe-Enzyme (ERT). Kule meko, ugqirha wakho ukunika elinye lala mayeza alandelayo ngemithambo yegazi:

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

La mayeza zii-enzymes ezakhiwe ngokwemfuza ezisebenza njengee-enzymes ezenzeka ngokwemvelo emizimbeni yethu. Olu nyango:

• Inceda ekunciphiseni ubukhulu bentliziyo.
• Inceda ukugcina ukusebenza kwentliziyo ngokuqhelekileyo.
• Inceda ukuphucula ukusebenza kwezihlunu, amandla, kunye nokuqina kwazo, okanye inciphise ukuqhubela phambili kwesi sifo.
• Inciphisa ubungakanani be-glycogen egcinwe emzimbeni.

Ukongeza, iqela leengcali liza kunyanga iimpawu zakho kwaye linike unyango olufunekayo. Eli qela lingabandakanya:

• Iingcali zonyango lomzimba, iingcali zonyango lomsebenzi, kunye neengcali zonyango lokuphefumla
• Iingcali zentliziyo
• Iingcali ze-Neurology

Ngokuxhomekeke ekubeni imeko yakho imbi kangakanani na, unokufuna:

• Unyango lomzimba okanye unyango lomsebenzi.
• Ityhubhu yokondla (`(ityhubhu yokondla)`).
• Inkxaso yokuphefumla eyenziweyo (`(umoya woomatshini)`).

Oososayensi ngoku benza uvavanyo lwezonyango lonyango lwezakhi zofuzo lwesifo sikaPompe. Unyango lwezakhi zofuzo lubandakanya ukutshintsha izakhi zofuzo ezonakeleyo ngeziphilileyo. Oku kuvumela umzimba wakho ukuba uvelise i-enzyme acid alpha-glucosidase ngokufanelekileyo. Eli lithemba elikhulu lekamva.

Ngaba isifo sikaPompe singathintelwa?

Isifo sePompe sisifo esibangelwa lufuzo, ngoko ke asinakuthintelwa . Nangona kunjalo, ukuba ukhulelwe okanye uceba ukukhulelwa, kungcono ukuthetha nogqirha wakho malunga neengcebiso zofuzo . Oku kuya kukunceda ufunde okungakumbi ngale nto kwaye, ukuba kuyimfuneko, uvavanywe.

Injani ixesha lokuphila ngesifo sikaPompe?

Ukuba esi sifo asifunyanwanga kwaye asinyangwa kwangethuba, abantwana abanesifo sikaPompe besebancinci badla ngokufa besebancinci ngenxa yokuphazamiseka kokuphefumla okanye ukungasebenzi kakuhle kwentliziyo.

Abantu abanesifo sePompe esiqala emva kwexesha banokuphila ixesha elide kuba esi sifo siqhubeka kancinci. Nangona kunjalo, oku kuxhomekeke kwiminyaka apho iimpawu ziqala khona kunye nobunzima besifo. Ngokubanzi, xa iimpawu ziqala ukuba mdala, kokukhona isifo siqhubeka kancinci.

Ufanele uye nini kugqirha?

Ukuba wena okanye umntwana wakho uneempawu zesifo sikaPompe, kufuneka nibone ugqirha ngoko nangoko . Ukuxilongwa kwangoko kunokuphucula kakhulu umgangatho wobomi babantwana kunye nabantu abadala abanale sifo.

Mna okanye umntwana wam singazinyamekela njani xa sinale meko?

Ukuba wena okanye umntwana wakho unesifo sePompe, cinga ngokuthetha nogqirha wengqondo. Ingcali yezengqondo ingakunceda uyiqonde ngcono imeko kwaye ikuncede ubhekane nayo ngcono. Kukwakho namaqela enkxaso apho unokudibana nabanye abantu abadlula kwiimeko ezifanayo kwaye wabelane ngamava.

Amaxesha amaninzi, abantu abanyamekela abanye abantu banokudinwa kakhulu okanye baxinezeleke kakhulu (ukudinwa okanye ukudinwa ngumzimba). Oku kuqhelekile, kodwa kubalulekile ukuzinyamekela wena kunye nomntwana wakho.

Ndibuza ntoni oogqirha ngesifo sikaPompe?

Ukuba wena okanye umntwana wakho nifunyaniswa ukuba ninesifo sikaPompe, ningathanda ukubuza ugqirha wakho imibuzo efana nale:

• Luhlobo luni lwesifo sePompe umntwana wam anaso?
• Ungandixelela ntoni ngobomi bomntwana wam?
• Luhlobo luni lweengcali esiza kufuneka sizibone?
• Kufuneka ndibabone kangaphi aba ngcali?
• Ndingenza ntoni ukuze umntwana wam ahlale ekhululekile?
• Ingaba yinto elungileyo na ukuba kwenziwe uvavanyo lwemfuza nakwamanye amalungu osapho?
• Ndingafunda njani ukuphila kakuhle nesifo sikaPompe?

Ukuba wena okanye umntwana wakho unesifo sePompe, buza ugqirha wakho malunga nokujoyina iqela lenkxaso. Ukwabelana ngamava akho nokufunda kwabanye kunokuba luncedo kakhulu kwaye kukuthuthuzele. Khumbula, awuwedwa. Nangona kungekho nyango lwesifo sePompe, izazinzulu ziyaqhubeka nokuphanda unyango. Oogqirha bafunda amayeza amaninzi asebenzayo anokunceda ukulawula ukusasazeka kweempawu kunye nokuphucula umgangatho wobomi bomntwana wakho.

Umyalezo Wokuya Ekhaya

Ukuqukumbela, isifo sikaPompe sisifo esingaqhelekanga, esifumaneka kwimfuza. Sibangela ubuthathaka bemisipha. Kukho iintlobo ezimbini, uhlobo lokuqalisa kosana kunye nohlobo lokuqalisa kade. Ukuxilongwa kwangoko kunye nonyango, olufana ne-Enzyme Replacement Therapy (ERT), kubaluleke kakhulu. Abantu abaphila nesi sifo kunye neentsapho zabo banokungenelwa kakhulu kwinkxaso yengqondo kunye namaqela enkxaso. Njengoko uphando malunga nonyango olutsha luqhubeka, kukho ithemba ngekamva. Ukuba unemibuzo malunga noku, ungathandabuzi ukuthetha nogqirha.

Isifo sePompe , isifo sokugcina iglycogen, i-acid alpha-glucosidase, i-GAA enzyme, ubuthathaka bemisipha, unyango lokutshintsha i-enzyme, isifo semfuza, i-Pompe yokuqalisa kosana, i-Pompe yokuqalisa emva kwexesha, isifo sokugcina i-lysosomal