Ingaba umntwana wakho akaphefumli? Ngaba mhlawumbi sisifo sikaPompe?

Ngaba umntwana wakho uziva etyhafile kwaye ediniwe? Ngaba uhlala nje apho, engashukumi njengabanye abantwana abalingana naye? Okanye ngaba kunzima kumntwana omdala ukuhamba, ukubaleka, okanye ukutsiba? Kuqhelekile ukuba umama okanye utata azive esoyika kakhulu xa ebona into efana nale. Kodwa ezi zinto aziqhelekanga rhoqo. Namhlanje sithetha ngemeko engaqhelekanga ebangela ubuthathaka bemisipha, kodwa engaziwa kakuhle kwilizwe lethu. Eso sisifo sePompe.

Ngamafutshane, yintoni iPompe Disease?

Isifo sikaPompe sisifo semfuza esibangela ukuqokelelwa kweswekile entsonkothileyo ebizwa ngokuba yi-glycogen ngaphakathi kweeseli zomzimba wethu. Sikweqela lezifo ezibizwa ngokuba zizifo zokugcina i-glycogen.

Kulungile, ngoku masiyiqonde le nto ngokulula. Umzimba wethu une-enzyme ebizwa ngokuba yi-acid alpha-glucosidase , okanye i-GAA ngamafutshane. Umsebenzi ophambili wale enzyme kukuqhekeza iswekile eyinkimbinkimbi ebizwa ngokuba yi-glycogen endikhankanyileyo ngaphambili size siyiguqule ibe yiswekile elula, i-glucose, enceda umzimba wethu uvelise amandla owadingayo.

Kumntu onesifo sePompe, umzimba awuvelisi le enzyme ye-GAA, okanye uvelisa intwana kakhulu. Ngoko ke kwenzeka ntoni ke ngoko? Ekubeni kungekho ndlela yokuqhekeza i-glycogen, iqala ukuqokelelana kancinci ngaphakathi kwiiseli zethu.

Ngaphakathi kwiiseli zethu kukho ii-organelles ezincinci ezibizwa ngokuba zii-lysosomes . Ezi zezona zisebenza njengeziko lokuphinda kusetyenziswe inkunkuma. I-enzyme ye-GAA kufuneka isebenze ngaphakathi kwezi lysosomes. Xa i-enzyme ingekho, i-glycogen iqokelelana ngaphakathi kwezi lysosomes, iyonakalisa kwaye ekugqibeleni yonakalise iseli yonke. Lo monakalo uhlala uchaphazela izihlunu zethu zentliziyo kunye nezihlunu zamathambo. Yiyo loo nto kuvela iimpawu ezifana nobuthathaka bemisipha.

Esi sifo saziwa ngamanye amagama:

• Ukunqongophala kwe-asidi ye-maltase
• Uhlobo lwesifo sokugcina iGlycogen II (GSD2)

Ziziphi iintlobo eziphambili zesi sifo?

Isifo sePompe sinokwahlulwa sibe ziintlobo ezimbini eziphambili, ngokusekwe kubudala bokuqala kwaso kunye nobunzima beempawu. Ukuze sikuncede uqonde umahluko phakathi kwezi ntlobo zimbini, makhe sijonge le theyibhile .

Ziziphi iimpawu ezinokubakho zesifo sikaPompe?

Iimpawu ziyahluka ngokuxhomekeke kuhlobo lwesifo.

Iimpawu zokuqala kosana

Kolu hlobo, umntwana usenokungabonakalisi zimpawu xa ezalwa, kodwa ezi mpawu ziqala ukubonakala kwiinyanga ezimbalwa.

• I-Hypotonia: Olu luphawu oluphambili. Umzimba womntwana uyatyhafa kwaye uzive ngathi ngunodoli onxitywayo. Kunzima ukubamba intloko phezulu okanye ukujika.
• I-Cardiomegaly: Intliziyo iyakhula ngenxa yokuqokelelwa kwe-glycogen kwimisipha yentliziyo.
• Isibindi esikhulu (iHepatomegaly)
• Ulwimi olukhulu (iMacroglossia)
• Iingxaki zokukhula nokunyuka kobunzima: Usana alukhuli kwaye alukhuli ngokwaneleyo.
• Ubunzima bokuphefumla: Ukuba buthathaka kwemisipha yesifuba kwenza kube nzima ukuphefumla.
• Ubunzima bokutya nokusela: Ubunzima bokuncanca nokuginya, nto leyo enokubangela iingxaki kwizinto ezifana nokusela ubisi.
• Usulelo oluqhelekileyo lokuphefumla (ukukhwehlela, umkhuhlane).
• Ukuphazamiseka kokuva.

Iimpawu zokuqala emva kwexesha

Ezi mpawu zincinci kwaye zikhula kancinci, kodwa zinokuba yingozi ekuhambeni kwexesha.

• Ukubuthathaka kancinci kancinci kwemisipha yemilenze kunye nomzimba.
• Ubunzima bokuhamba kunye nokuwa rhoqo.
• Intlungu yemisipha kwindawo enkulu.
• Ukungakwazi ukwenza umthambo.
• Iintsholongwane zokuphefumla ezixhaphakileyo.
• Ubunzima bokuphefumla xa udiniwe (Dyspnea).
• Intloko ebuhlungu yasekuseni: Oku kungaba luphawu lokuphefumla ngokungacwangciswanga ebusuku.
• Ukudinwa kakhulu kunye nokulala emini.
• Ukuhla ukusinda.
• Ubunzima bokuginya (i-Dysphagia).
• Ukubetha kwentliziyo okungaqhelekanga (i-Arrhythmia).
• Ukuphazamiseka kokuva.

Kutheni esi sifo senzeka? Yintoni unobangela?

Esi sisifo esibangelwa yimbangela yemfuza ngokupheleleyo. Kukho ijini ebizwa ngokuba yi-GAA emzimbeni wethu. Le jini yileyo iyalela ukuveliswa kwe-enzyme ye-GAA ekhankanyiweyo. Isifo sePompe sibangelwa kukuguquka kwesi jini se-GAA. Olu tshintsho lunciphisa okanye lumisa ngokupheleleyo ukuveliswa kwe-enzyme ye-GAA.

Esi sifo sizuzwe njengelifa ngendlela 'ye-Autosomal Recessive' . Kuthetha ukuthini oko?

Ukuba bobabini abazali banesi sifo, kukho amathuba angama-25% okuba umntwana abe naso, amathuba angama-50% okuba umntwana naye abe naso, kunye namathuba angama-25% okuba umntwana akayi kuzuza ilifa lee-genes ezineziphene kwaye uya kuba sempilweni.

Ugqirha uxilonga njani esi sifo?

Xa usisa umntwana wakho okanye wena ngokwakho kugqirha, into yokuqala abayenzayo kukwenza uvavanyo lomzimba baze babuze ngembali yempilo yosapho lwakho. Emva koko, baqhuba iimvavanyo ezimbalwa ukuqinisekisa ukuba unesifo.

• Uvavanyo lwegazi:
• Uvavanyo lweNqanaba leKreatine Kinase: Le enzyme ikhutshwa egazini xa izihlunu zonakele. Ukuba inqanaba layo liphezulu, oko kungabonisa ukuba izihlunu zonakele.
• Uvavanyo lomsebenzi we-enzyme ye-GAA: Olu lolona vavanyo lukhethekileyo . Kuthathwa isampuli yegazi kwaye umsebenzi we-enzyme ye-GAA uyalinganiswa. Ukuba unesifo sePompe, lo msebenzi uphantsi kakhulu.
• Uvavanyo lweMfuzo: Olu vavanyo lwenziwa ukuqinisekisa ukuba kukho utshintsho kwi-gene ye-GAA.
• Ezinye iimvavanyo:
• Uvavanyo lokusebenza kwemithambo yegazi: Linganisa ubuthathaka bemisipha yokuphefumla.
• I-Electromyography (EMG): Linganisa umsebenzi wombane wemisipha.
• Uvavanyo lwentliziyo: Uvavanyo olufana ne-ECG kunye ne-Echocardiogram lujonga imeko yentliziyo.
• Izifundo zokulala: Chonga iingxaki zokuphefumla ngexesha lokulala.

Zithini iindlela zonyango zoku?

Nangona isifo sikaPompe singenakunyangwa ngokupheleleyo, kukho unyango olunokulawula iimpawu nokuphucula umgangatho wobomi.

Unyango oluphambili yi -Enzyme Replacement Therapy (ERT) , equka ubunjineli be-enzyme ye-GAA engekhoyo ngokwezakhi zofuzo kunye nokuyifaka nge-saline.

• I-Alglucosidase alfa
• I-Avalglucosidase alfa

Ngala mayeza,

• Inciphisa ubukhulu bentliziyo ekhulisiweyo.
• Ibuyisela ukusebenza kwentliziyo.
• Iphucula amandla emisipha kunye nokusebenza kwayo.
• Inciphisa ukugcinwa kwe-glycogen kwiiseli.

Ukongeza kolu nyango lwe-ERT, isigulana sidinga uncedo oluxhaswayo.Kubalulekile ukuba oku kwenzeke. Iqela loogqirha abaziingcali kunye neengcali zonyango lisebenzisana kunye kule nto.

• Iingcali zonyango lomzimba: Nika imithambo yokuqinisa izihlunu nokuphucula intshukumo.
• Iingcali zonyango lomsebenzi: Nceda abantu benze imisebenzi yemihla ngemihla ngokuzimela.
• Iingcali zokuphefumla: Nyanga iingxaki zokuphefumla.
• Iingcali zentliziyo
• Iingcali ze-Neurology

Ngokuxhomekeke kubukhulu besifo, isigulane sinokufuna izinto ezifana nokufakelwa umoya ngomatshini okanye ityhubhu yokondla .

Ukongeza, izazinzulu zikwaphanda ngonyango lwanamhlanje olufana nonyango lwezakhi zofuzo , olujolise ekwenzeni umzimba uvelise i-enzyme ye-GAA ngokwawo ngokutshintsha i-gene eyonakeleyo nge-gene ephilileyo.

Yintoni onokuyenza ukuba wena okanye umntwana wakho unesi sifo?

Ukuba unesikrokro sokuba wena okanye umntwana wakho unale mpawu, nceda ungachithi xesha uye kugqirha ngoko nangoko. Okukhona isifo sifunyanwa ngokukhawuleza kwaye unyango luqala, kokukhona umgangatho wobomi besigulana unokuba ngcono.

Ukujongana nemeko efana nale akulula. Yiyo loo nto kubalulekile ukufuna uncedo kwingcali yezengqondo. Kwakhona, ukujoyina amaqela enkxaso nabanye abantu abanezifo ezifanayo kunye neentsapho zabo kunokuba namandla amakhulu. Eyona nto ilungileyo kukuziva ukuba awuwedwa.

Udinga nokuphumla kunye nempilo yengqondo ukuze unyamekele umntwana wakho. Ungalibali loo nto.

Buza ugqirha wakho imibuzo efana nale:

• Luhlobo luni lwesifo sePompe umntwana wam anaso?
• Ziziphi ezinye iingcali ekufuneka sizibone?
• Ndingenza ntoni ukuze umntwana wam azive ekhululekile?
• Ingaba yinto elungileyo na ukuba kwenziwe uvavanyo lwemfuza nakwamanye amalungu osapho?
• Ndingalufumana njani uncedo lokuhlala ndiqinile engqondweni ngenxa yesi sifo?