Ese ubabara imitsi nubwo wamaze gukora imyitozo ngororamubiri? Iyi ishobora kuba indwara ya McArdle!

Nawe rimwe na rimwe wumva ubabara kandi ukagira intege nke iyo ukora siporo cyangwa ugakora ikintu gisaba imbaraga nke, sibyo? Ibyo ni ibisanzwe. Ariko kuri bamwe, iyi ndwara irakabije. Ndetse no gukora ikintu gito bituma unanirwa vuba, kandi imitsi yawe ikagira ububabare kandi igakomeza gukomera. Uyu munsi tugiye kuvuga ku kibazo kidasanzwe ariko cy'ingenzi cyane ugomba kumenya. Iki cyitwa indwara ya McArdle, cyangwa `indwara yo kubika glycogen type 5 (GSD5)`.

Indwara ya McArdle ni iki?

Mu magambo make, indwara ya McArdle ni indwara iterwa n'uturemangingo (genetic disorder) igaragara mu miryango yacu . Igira ingaruka cyane cyane ku mitsi y'amagufwa yawe. Ni ukuvuga imitsi dukoresha mu kugendagenda, guterura ibintu no kugenda.

Iyi ndwara iterwa no kubura cyangwa kubura burundu enzyme yihariye mu mitsi yacu yitwa `muscle glycogen phosphorylase` cyangwa `myophosphorylase`. Iyo iyi enzyme ibuze burundu, imitsi yacu ntishobora gukora ingufu zikenewe. Niyo mpamvu ibimenyetso nko kubabara imitsi, gukomera, no kunanirwa bigaragara mu gihe cy'imyitozo ngororamubiri cyangwa iyo tunaniwe.

Ibimenyetso bikunze gutangira kugaragara nyuma y'imyaka 15-20, cyangwa mu myaka ya za 20 cyangwa 30. Ariko, rimwe na rimwe ishobora kugaragara mu myaka iyo ari yo yose. Iyi ndwara yitwa "McArdle" ikomoka kuri Dr. Brian McArdle, wayigaragaje bwa mbere mu 1951.

Iyi ndwara ikunze kugaragara mu rugero rungana iki?

Indwara ya McArdle mu by’ukuri ni indwara idakunze kugaragara cyane . Nk’uko abashakashatsi babivuga, ifata abantu bari hagati ya 50.000 na 200.000 muri Leta Zunze Ubumwe za Amerika.

Ibimenyetso ni ibihe?

Ibimenyetso by'iyi ndwara bishobora gutandukana cyane bitewe n'umuntu ku giti cye. Hari abantu bashobora kugira ibimenyetso byoroheje cyane, abandi bakaba babyibasirwa cyane.

Ikimenyetso nyamukuru kandi gikunze kugaragara ni ukunanirwa gukora imyitozo ngororamubiri, bivuze ko wumva unaniwe vuba iyo uri gukora imyitozo ngororamubiri . Ibindi bimenyetso ni ibi bikurikira:

• Kuribwa imitsi
• Intege nke
• Umunaniro
• Kubabara imitsi
• Gukomera kw'imitsi

Ibi bimenyetso byose bishobora kugaragara ukimara gutangira gukora imyitozo ngororamubiri. Ariko akenshi bigabanuka nyuma yo kuruhuka gato . Igitangaje ni uko hari abantu basanga nyuma yo kumva bananiwe, iyo baruhutse gato hanyuma bakongera gukora imyitozo imwe, bashobora kubikora neza kurusha mbere. Ibi byitwa "umuyaga wa kabiri." Ni nko kugira umwuka wa kabiri. Iyo udakoze imyitozo ngororamubiri, ubusanzwe nta bimenyetso wumva.

Ushobora gukora imyitozo ngororamubiri yoroheje kandi yoroshye, nko kugenda ahantu hagororotse, nta kibazo. Ariko, imyitozo ngororamubiri ikomeye ishobora gutera ibimenyetso vuba. By'umwihariko, imyitozo isaba gufata imitsi mu mwanya wayo utiriwe ugenda, nko gukora imyitozo ngororamubiri , kwicara hasi, no guhagarara ku mano, ishobora kwangiza imitsi. Tekereza ku kumererwa nabi wumva iyo uteruye silinda ya gazi cyangwa utwaye isakoshi iremereye.

Ese ibi bishobora guteza ibibazo bikomeye? (Ingaruka mbi)

Yego, hari igihe ibibazo bikomeye bishobora kubaho. Hafi kimwe cya kabiri cy'abantu barwaye indwara ya McArdle bagira ikibazo cyitwa `rhabdomyolysis` nyuma yo gukora imyitozo ngororamubiri ikomeye . Iki ni cyo gihe imitsi icika intege.

Rhabdomyolysis ni indwara ikomeye kandi ishobora gushyira ubuzima mu kaga, ikaba yatera impyiko gucika intege mu buryo butunguranye (gucika intege mu buryo butunguranye) ndetse n'umusemburo wa potasiyumu mu maraso (hyperkalemia).

Bityo rero, ugomba kwitondera cyane ingano y’imyitozo ngororamubiri n’uburyo ukoresha cyane. Ibi bizagufasha kwirinda indwara ya `rhabdomyolysis`. Niba ubonye ibimenyetso nko kubyimba imitsi, inkari zijimye (umukara, umutuku, ibara ry’icyayi) , ugomba kwihutira gushaka inama kwa muganga .

Kuki ibi bibaho? Ni izihe mpamvu zibitera?

Indwara ya McArdle ni indwara iterwa n'uturemangingo . By'umwihariko, iterwa n'impinduka mu ngirabuzimafatizo ya 'PYGM'. Ubusanzwe, iyi ngirabuzimafatizo ya 'PYGM' itegeka umubiri wacu gukora enzyme yitwa 'myophosphorylase'.

Iyi enzyme iboneka gusa mu turemangingo tw’imitsi yacu. Isenya glycogen (isukari yabitswe) mu mitsi ikayihinduramo glucose-1-phosphate. Iyi glucose-1-phosphate ihita ihinduka glucose. Isukari ni isoko nyamukuru y’ingufu z’umubiri wacu . Iyo dukora siporo, imitsi yacu ikoresha iyi glucose nyinshi.

Noneho, iyo enzyme ya `myophosphorylase` ikozwe gake cyangwa ntikorerwe na gato bitewe n'impinduka muri gene ya `PYGM`, uturemangingo tw'imitsi yacu ntidushobora gusenya `glycogen` neza no gukora ingufu (`glucose`). Niyo mpamvu imitsi inanirwa vuba.

Abashakashatsi kugeza ubu bamaze kubona impinduka 179 zitandukanye (variants) zigira ingaruka ku ngirabuzimafatizo ya `PYGM`.

Uburyo indwara ya McArdle ivuka

Uragwa iyi ndwara n'ababyeyi bawe bakuze, mu buryo bwa "autosomal recessive" . Muri make, ababyeyi bombi bagomba kuba ari bo "batwara" gene yahindutse, bivuze ko bombi bafite gene iri hafi.Abayirwaye ubusanzwe ntibagaragaza ibimenyetso. Ariko, iyo ababyeyi bombi ari bo bayirwaye kandi bombi bakayiha abana babo, indwara izatangira.

Abaganga bapima iki kibazo gute? (Isuzuma)

Abaganga bakoresha cyane cyane ikizamini cy'ukuboko kugira ngo bamenye iyi ndwara. Ibi bikubiyemo gufata amaraso mbere na nyuma yo gukora imyitozo ngororamubiri mike n'ukuboko kwawe. By'umwihariko, bareba urwego rwa 'aside lactic' na 'ammonia' .

Ubusanzwe, urugero rwa aside lactic rugomba kwiyongeraho inshuro eshatu nyuma yo gukora imyitozo ngororamubiri. Ariko, niba urugero rwa aside lactic yawe rutari hejuru muri iki kizamini, ni ikimenyetso cy'uko ushobora kuba ufite indwara ya McArdle.

Hari ibindi bizamini bishobora gufasha kwemeza iyi ndwara:

• Isuzuma ry'amaraso rya Creatine kinase (CK): Iyo imitsi yangiritse, enzyme yitwa creatine kinase (CK) irarunda mu maraso. Abantu barwaye indwara ya McArdle bashobora kugira CK nyinshi buri gihe.
• Ikizamini cy’umuvuduko w’imyitozo ngororamubiri: Iki kizapima ikintu kizwi nka "umuyaga wa kabiri." Muganga azagusaba gukora imyitozo ngororamubiri inshuro nke, ukaruhuka hagati, hanyuma urebe niba ushobora kuyikora neza nyuma y’indi mirimo.
• Isuzuma ry'imitsi: Muri iki kizamini, umuganga afata icyitegererezo gito cy'imitsi yawe yo mu magufwa maze akayohereza muri laboratwari kugira ngo igenzurwe hifashishijwe mikorosikopi. Umuganga w'indwara areba ingingo kugira ngo arebe niba hari ibimenyetso by'indwara ya McArdle.
• Gupima imiterere y'uturemangingo: Ibi bishobora kubasha kumenya ihinduka ry'uturemangingo ritera indwara ya McArdle.

Twakora iki kuri ibi? (Ubuvuzi)

Ikibabaje ni uko nta muti uhari wo kuvura indwara ya McArdle. Uburyo bw'ingenzi bwo kuyivura ni ukwirinda ibikorwa byongera ibimenyetso by'indwara. Ariko, kudakora imyitozo ngororamubiri na gato ntabwo ari byiza ku buzima bwawe.

Ubushakashatsi bwagaragaje ko ubuvuzi bw’imyitozo ngororamubiri bukoresha imbaraga ziringaniye kandi bufite amanota meza bushobora kugirira akamaro abantu barwaye indwara ya McArdle. Abantu bakora ubu bwoko bw’imyitozo ngororamubiri bagabanyije cyane ubushobozi bwo kwihanganira imyitozo ngororamubiri, kandi bashobora no kubona "umwuka wa kabiri" vuba mu gihe cy’imyitozo ngororamubiri. Ushobora gukorana na muganga wawe n’umuganga w’imiti kugira ngo baguhe gahunda nziza yo kuvura imyitozo ngororamubiri.

Nanone, indyo ikungahaye kuri karubohidratiUbushakashatsi bwerekana ko kuyifata bishobora kandi kugabanya ubukana bw'ibimenyetso bibaho mu gihe cy'imyitozo ngororamubiri. Ibi bifasha imitsi yawe gukoresha isukari (isukari) mu maraso yawe aho gukoresha glycogen kugira ngo ikoreshwe mu gutera imbaraga. Muganga wawe cyangwa inzobere mu mirire bashobora kukugira inama yo kurya ifunguro nk'iri:

• 65% by'ibiryo byawe bya buri munsi bigomba kuva kuri karubohidrati zigoye (zikomoka ku mboga, imbuto, umugati, makaroni, n'umuceri).
• 20% bya karori zikomoka ku binure .
• 15% bya karori zikomoka kuri poroteyine .

Bishobora kandi kuba ingirakamaro kunywa isukari yoroshye, nk'ikinyobwa cya siporo gifite isukari, mbere gato yo gukora siporo.

Ni gute kubaho n'ibi?

Abantu benshi barwaye indwara ya McArdle babaho ubuzima busanzwe . Hari abantu bashobora kugira intege nke zidashira no gutakaza imitsi ('atrophy') mu myaka yabo ya nyuma, akenshi mu myaka ya za 60 cyangwa 70.

Igikuru ni ukumenya ibimenyetso by'indwara ya `rhabdomyolysis` yavuzwe haruguru no kuyikumira uko bishoboka kose, kuko ari yo ngorane nyamukuru y'iyi ndwara.

Imyaka yo kubaho k'umuntu urwaye iyi ndwara ni iyihe?

Indwara ya McArdle ubusanzwe ntigira ingaruka ku buzima bw'umuntu .

Ariko, ni gake cyane, habaho indwara yitwa `infantile McArdle syndrome` , igaragara hafi nyuma yo kuvuka. Ibi birahitana - ibimenyetso birakomeye kandi birushaho kwiyongera vuba.

Ese indwara ya McArdle ishobora kwirindwa?

Kubera ko iyi ari indwara iterwa n'uturemangingo, nta kintu na kimwe twakora ngo tuyirinde .

Niba uhangayikishijwe n'ibyago byawe byo kurwara indwara ya McArdle cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo mbere yo kubyara umwana, ni byiza kuganira na muganga wawe ku birebana n'ubujyanama ku ngirabuzimafatizo .

Ni ryari ngomba kujya kwa muganga?

Niba ibimenyetso byawe birushijeho kwiyongera, cyangwa niba ubushobozi bwawe bwo gukora imyitozo ngororamubiri isanzwe buhindutse, reba muganga wawe.

Ushobora kandi gukenera kubonana na muganga w’imiti ivura indwara z’umubiri cyangwa inzobere mu mirire buri gihe kugira ngo akuyobore ku bijyanye na gahunda yawe yo kuvura.

Ni ryari ugomba kujya mu Ishami ry’Ubuvuzi bw’Ingoboka (ETU) ?

Niba ufite ibimenyetso bya `rhabdomyolysis`, ugomba kujya mu cyumba cy’ubutabazi bw’ibanze (ETU) vuba bishoboka . Ibimenyetso ni ibi bikurikira:

• Kubyimba imitsi
• Intege nke z'imitsi
• Ububabare n'ububabare iyo ukoze ku mitsi
• Inkari zijimye (umukara, umutuku, ibara ry'icyayi)
• Kubura amazi mu mubiri
• Kugabanuka kw'inkari
• Isesemi
• Gutakaza ubwenge

Indwara ya McArdle ishobora gutuma bigorana gukora imyitozo ngororamubiri. Ariko inkuru nziza ni uko,Birashoboka kandi nta ngaruka nini bigira ku buzima bwawe muri rusange. Muganga wawe azakorana nawe kugira ngo aguhe gahunda nziza yo kuvura.

Ubutumwa bwo kujyana mu rugo

Sawa, reka twibutse ibintu bike twavuzeho tubona ko ari ingenzi kuri wewe:

Indwara ya McArdle ni indwara iterwa no kubura enzyme ifasha imitsi gukora ingufu.

Ibimenyetso by'ingenzi ni ukunanirwa vuba, kubabara imitsi, no kwizunguruka mu gihe ukora imyitozo ngororamubiri.

Menya ingorane ikomeye yitwa `rhabdomyolysis`. Nubona ibi bimenyetso, hita ubonana na muganga.

Nubwo nta muti wihariye uhari, ushobora kwitabwaho neza ukoresheje imyitozo ngororamubiri n'indyo ikwiye kandi ukabaho ubuzima busanzwe.

Niba ufite ikindi kibazo kuri ibi, ntutindiganye kuvugana na muganga wawe.

Wibuke ko utari wenyine. Uramutse ufite ubumenyi n'inkunga bikwiye, ushobora guhangana n'iki kibazo.

Indwara ya McArdle , GSD5, Indwara ya McArdle, Ububabare bw'imitsi, Imyitozo ngororamubiri, Indwara z'uturemangingo, Glycogen, Myophosphorylase, Rhabdomyolysis, Kutahanganira imyitozo ngororamubiri