Ingaba unentlungu yemisipha nasemva kokuzilolonga kancinci? Oku kusenokuba sisifo sikaMcArdle!

Nawe ngamanye amaxesha uziva ubuhlungu kwaye ubuthathaka xa uzilolonga okanye usenza into efuna umgudu omncinci, akunjalo? Yinto eqhelekileyo leyo. Kodwa kwabanye abantu, le meko inzima kakhulu. Nokuba wenza into encinci kukwenza udinwe ngokukhawuleza, kwaye izihlunu zakho ziyaqaqamba kwaye ziqine. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyiqaphele. Oku kubizwa ngokuba sisifo sikaMcArdle, okanye `isifo sokugcina i-glycogen uhlobo 5 (GSD5)`.

Yintoni isifo sikaMcArdle?

Ngamafutshane, isifo sikaMcArdle sisifo semfuza esichaphazela iintsapho zethu . Sichaphazela kakhulu izihlunu zakho zamathambo . Oko kukuthi, izihlunu esizisebenzisayo ukuhambahamba, ukuphakamisa izinto, nokuhamba.

Esi sifo sibangelwa kukungabikho okanye ukungabikho ngokupheleleyo kwe-enzyme ekhethekileyo kwimisipha yethu ebizwa ngokuba yi-'muscle glycogen phosphorylase' okanye i-'myophosphorylase'. Xa le enzyme ingekho kwaphela, imisipha yethu ayikwazi ukuvelisa amandla afunekayo. Yiyo loo nto iimpawu ezifana neentlungu zemisipha, ukuqina, kunye nokudinwa zibonakala ngexesha lokuzilolonga okanye xa sidiniwe.

Iimpawu zihlala ziqala ukubonakala emva kweminyaka eli-15 ukuya kwengama-20, okanye kwiminyaka engama-20 okanye engama-30 . Nangona kunjalo, ngamanye amaxesha zinokubonakala nakweyiphi na iminyaka. Esi sifo sibizwa ngokuba yi-"McArdle" emva koGqr. Brian McArdle, owasixela okokuqala ngo-1951.

Ixhaphake kangakanani le sifo?

Isifo sikaMcArdle sisifo esingaqhelekanga kakhulu . Ngokutsho kwabaphandi, sichaphazela umntu omnye kwabangama-50,000 kunye nomnye kwabangama-200,000 eMelika.

Zithini iimpawu?

Iimpawu zesi sifo zingahluka kakhulu kumntu nomntu. Abanye abantu banokuba neempawu ezibuthathaka kakhulu, ngelixa abanye banokuchaphazeleka kakhulu.

Uphawu oluphambili noluqhelekileyo kukungakwazi ukuzilolonga, nto leyo ethetha ukudinwa ngokukhawuleza xa usenza umthambo . Ezinye iimpawu zezi:

• Ukuqaqamba kwemisipha
• Ubuthathaka
• Ukudinwa
• Intlungu yemisipha
• Ukuqina kwemisipha

Zonke ezi mpawu zinokubonakala kwangoko xa uqala ukuzilolonga. Kodwa zihlala ziphela emva kokuphumla okufutshane . Okumangalisayo kukuba, abanye abantu bafumanisa ukuba emva kokuba bezive bediniwe ekuqaleni, ukuba baphumle okufutshane baze benze umthambo ofanayo kwakhona, banokukwenza ngcono kunangaphambili. Oku kubizwa ngokuba "ngumoya wesibini." Kufana nokuba nomoya wesibini. Xa ungazilolongi, awuva zimpawu.

Usenokukwazi ukwenza umthambo olula nothambileyo, njengokuhamba kwindawo ethe tyaba, ngaphandle kweengxaki. Nangona kunjalo, umthambo onzima womzimba unokubangela iimpawu ngokukhawuleza. Ngokukodwa, umthambo oquka ukubamba izihlunu endaweni yazo ngaphandle kokushukuma, njengokuzivocavoca kwe-isometric , ukuquleka, kunye nokuma ngeenzwane zakho, unokonakalisa izihlunu. Cinga ngokungonwabi okuzivayo xa uphakamisa isilinda segesi okanye uphethe ibhegi enzima.

Ngaba oku kungabangela iingxaki ezinkulu? (Iingxaki)

Ewe, ngamanye amaxesha iingxaki ezinkulu zinokubakho. Malunga nesiqingatha sabantu abanesifo sikaMcArdle baba nesifo esibizwa ngokuba yi-'rhabdomyolysis' emva kokuzilolonga kakhulu . Kulapho izihlunu ziqhekeka khona.

I-Rhabdomyolysis yimeko embi kakhulu, esongela ubomi enokubangela ukungasebenzi kakuhle kwezintso ngesiquphe (ukungasebenzi kakuhle kwezintso) kunye namanqanaba aphezulu e-potassium egazini (i-hyperkalemia).

Ngoko ke, kufuneka ulumke kakhulu malunga nokuba uzilolonga kangakanani kwaye unzima kangakanani. Oku kuya kunceda ukuthintela imeko ethi `rhabdomyolysis`. Ukuba ufumana naziphi na iimpawu ezinje ngokudumba kwemisipha, umchamo omnyama (omdaka, obomvu, onombala weti) , kufuneka ufune iingcebiso zonyango ngokukhawuleza .

Kutheni oku kusenzeka? Zithini izizathu zoku?

Isifo sikaMcArdle sisifo semfuza . Ngokukodwa, sibangelwa kukuguquka kwezakhi zofuzo kwi-'PYGM'. Ngokwesiqhelo, esi sifuzo se-'PYGM' siyalela umzimba wethu ukuba wenze i-enzyme ebizwa ngokuba yi-'myophosphorylase'.

Le enzyme ifumaneka kuphela kwiiseli zemisipha yethu yamathambo. Iqhekeza i-glycogen (iswekile egciniweyo) kwimisipha ibe yi-glucose-1-phosphate. Le glucose-1-phosphate iguqulwa ibe yi-glucose. I-glucose yeyona mthombo wamandla emizimbeni yethu . Xa sizilolonga, imisipha yethu isebenzisa uninzi lwale glucose.

Ngoku, xa i-enzyme ethi `myophosphorylase` iveliswa kancinci okanye ingaveliswa konke konke ngenxa yotshintsho kwi-gene ethi `PYGM`, iiseli zethu zemisipha azikwazi ukuqhekeza i-`glycogen` ngokufanelekileyo kwaye zivelise amandla (`glucose`). Yiyo loo nto izihlunu zidinwa ngokukhawuleza.

Abaphandi ukuza kuthi ga ngoku bafumanise iinguqulelo ezahlukeneyo ezili-179 (iinguqulelo) ezichaphazela i-'PYGM' gene.

Indlela isifo sikaMcArdle esizuzwa ngayo njengelifa

Ufumana esi sifo kubazali bakho bemvelo, ngendlela ethi "autosomal recessive" . Ngamafutshane, bobabini abazali kufuneka babe "ngabathwali" bejini etshintshileyo, oko kuthetha ukuba bobabini banejini ekufutshane.Abantu abathwala esi sifo abadli ngokubonisa zimpawu. Nangona kunjalo, ukuba bobabini abazali bathwala esi sifo kwaye bobabini badlulisela esi sifo kubantwana babo, esi sifo siya kuvela.

Oogqirha bayixilonga njani le nto? (Ukuxilongwa)

Oogqirha basebenzisa kakhulu uvavanyo lokuzilolonga ngengalo ukuze bafumanise esi sifo. Oku kuquka ukuthatha iisampuli zegazi ngaphambi nasemva kokuba wenze umthambo omncinci ngengalo yakho. Ngokukodwa, bajonga amanqanaba `e-lactic acid` kunye `e-ammonia` .

Ngokwesiqhelo, amanqanaba e-lactic acid kufuneka anyuke malunga nezihlandlo ezithathu emva kokuzilolonga. Nangona kunjalo, ukuba amanqanaba akho e-lactic acid akaphakamanga kolu vavanyo, luphawu lokuba usenokuba unesifo sikaMcArdle.

Kukho ezinye iimvavanyo ezinokunceda ukuqinisekisa esi sifo:

• Uvavanyo lwegazi lweCreatine kinase (CK): Xa izihlunu zonakele, i-enzyme ebizwa ngokuba yi-creatine kinase (CK) iyaqokelelana egazini. Abantu abanesifo sikaMcArdle banokuba namanqanaba aphezulu e-CK rhoqo.
• Uvavanyo loxinzelelo lomthambo olulinganisiweyo: Olu vavanyo lunokuvavanya into eyaziwa ngokuba "ngumoya wesibini." Ugqirha uza kukwenza wenze imijikelo embalwa yomthambo, uphumle phakathi, uze ubone ukuba ungawenza kakuhle na umthambo emva kokunye.
• I-biopsy yemisipha: Kolu vavanyo, ugqirha uthatha isampuli encinci yemisipha yakho yamathambo aze ayithumele kwilebhu ukuze ijongwe nge-microscope. Ingcali yezifo ijonga izicubu ukuze ibone ukuba kukho naziphi na iimpawu zesifo sikaMcArdle.
• Uvavanyo lwemfuza: Oku kunokukwazi ukuchonga utshintsho oluthile lwemfuza olubangela isifo sikaMcArdle.

Singenza ntoni ngale nto? (Unyango)

Ngelishwa, akukho nyango lwesifo sikaMcArdle. Unyango oluphambili kukuphepha imisebenzi eyonyusa iimpawu zakho. Nangona kunjalo, ukungenzi naluphi na uhlobo lomsebenzi womzimba akulunganga kwimpilo yakho.

Uphando lubonise ukuba unyango lokuzivocavoca olusebenzisa i-aerobic olunemigangatho ephakathi lunokuba luncedo kubantu abanesifo sikaMcArdle. Abantu abenza olu hlobo lokuzivocavoca baye banciphisa kakhulu ukunganyamezelani nomthambo, kwaye banokuziva loo "moya wesibini" ngokukhawuleza ngexesha lomthambo. Ungasebenzisana nogqirha wakho kunye nogqirha wezonyango ukuze ufumane isicwangciso sonyango somthambo esifanelekileyo kuwe.

Kwakhona, ukutya okutyebileyo kwiicarbohydrateIzifundo zibonisa ukuba ukuyithatha kunokunciphisa nobunzima beempawu ezenzeka ngexesha lokuzilolonga. Oku kunceda izihlunu zakho ukuba zisebenzise i-glucose (iswekile) egazini lakho endaweni ye-glycogen ukuze zifumane amandla. Ugqirha wakho okanye ingcali yokutya ebhalisiweyo ingacebisa isicwangciso sokutya esifana nesi:

• Ama-65% eekhalori zakho zemihla ngemihla kufuneka zivela kwiicarbohydrate ezintsonkothileyo (ezifana nemifuno, iziqhamo, isonka, ipasta, kunye nerayisi).
• Iikhalori ezingama-20% ezivela kumafutha .
• I-15% yeekhalori ezivela kwiproteni .

Kunganceda nokusela iswekile elula, njengesiselo sezemidlalo esinoshukela, ngaphambi nje kokuba uzilolonge.

Kunjani ukuhlala nale nto?

Uninzi lwabantu abanesifo sikaMcArdle baphila ubomi obuqhelekileyo . Abanye abantu banokuba buthathaka obungapheliyo kunye nokuphelelwa ngamandla kwemisipha ('atrophy') kamva ebomini, ngesiqhelo xa bekwiminyaka yabo yama-60 okanye engama-70.

Eyona nto ibalulekileyo kukwazi iimpawu zesifo se-rhabdomyolysis esikhankanyiweyo apha ngasentla nokuthintela ukuba singenzeki kangangoko kunokwenzeka, kuba yeyona ngxaki iphambili yesi sifo.

Ingakanani iminyaka yobomi bomntu onesi sifo?

Isifo sikaMcArdle asisoloko sichaphazela ubomi bomntu .

Nangona kunjalo, kunqabile kakhulu ukuba kubekho imeko ebizwa ngokuba yi -`infantile McArdle syndrome` , ebonakala phantse kwangoko emva kokuzalwa. Oku kuyabulala - iimpawu ziba nzima kwaye ziba mandundu ngokukhawuleza.

Ngaba isifo sikaMcArdle singathintelwa?

Ekubeni esi sisifo esibangelwa yimfuza, akukho nto sinokuyenza ukuyithintela .

Ukuba ukhathazekile ngomngcipheko wakho wokufumana isifo sikaMcArdle okanye ezinye izifo zemfuza ngaphambi kokuba ube nomntwana, kulungile ukuthetha nogqirha wakho malunga neengcebiso zemfuza .

Ndifanele ndimbone nini ugqirha?

Ukuba iimpawu zakho ziya zisiba mandundu, okanye ukuba amandla akho okwenza imisebenzi yakho eqhelekileyo yomzimba ayatshintsha, bona ugqirha wakho.

Kusenokufuneka ubonane nogqirha wezonyango kunye/okanye ingcali yesondlo rhoqo ukuze ufumane isikhokelo malunga nesicwangciso sakho sonyango.

Ufanele uye nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Ukuba uneempawu ze-`rhabdomyolysis`, kuya kufuneka uye kwigumbi longxamiseko (ETU) ngokukhawuleza . Iimpawu zezi:

• Ukudumba kwemisipha
• Ubuthathaka bemisipha
• Ubuhlungu kunye nentlungu xa uchukumisa izihlunu
• Umchamo omnyama (omdaka, obomvu, onombala weti)
• Ukuphelelwa ngamanzi emzimbeni
• Ukuncipha kokuchama
• Isicaphucaphu
• Ukulahlekelwa yingqondo

Isifo sikaMcArdle sinokwenza kube nzima ukwenza eminye imisebenzi yomzimba. Kodwa iindaba ezimnandi zezi,Iyalawuleka kwaye ayinampembelelo ingako kwimpilo yakho iyonke. Ugqirha wakho uza kusebenza nawe ukuze afumane isicwangciso sonyango esifanelekileyo kuwe.

Umyalezo Wokuya Ekhaya

Kulungile, masikukhumbuze ngezinto ezimbalwa esithethe ngazo esicinga ukuba zibalulekile kuwe:

Isifo sikaMcArdle sisifo semfuza esibangelwa kukunqongophala kwe-enzyme enceda izihlunu zivelise amandla.

Iimpawu eziphambili kukudinwa ngokukhawuleza, iintlungu zemisipha, nokuqengqeleka xa usenza umthambo.

Qaphela ingxaki enkulu ebizwa ngokuba yi-'rhabdomyolysis'. Ukuba ufumana ezi mpawu, bonana nogqirha ngokukhawuleza.

Nangona kungekho ndlela ithile yokunyanga oku, kunokulawulwa kakuhle ngokuzilolonga nokutya okufanelekileyo kwaye ungaphila ubomi obuqhelekileyo.

Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha wakho.

Khumbula, awuwedwa. Ngolwazi olufanelekileyo nenkxaso, ungamelana nale meko.

Isifo sikaMcArdle , i-GSD5, Isifo sikaMcArdle, Iintlungu Zemisipha, Ukuzilolonga, Isifo Sofuzo, iGlycogen, iMyophosphorylase, iRhabdomyolysis, Ukunganyamezeli Kokuzilolonga