Ese umwana wawe afite ibi bimenyetso? Reka tuvuge kuri Leigh Syndrome!

Birashimishije cyane kubona umwana uvutse, si byo se? Ariko rimwe na rimwe, nubwo yatangira asa n'ufite ubuzima bwiza, ashobora gutangira kugaragaza ibimenyetso bidasanzwe nyuma y'amezi make. Iyo afite ikibazo cyo konsa, kurira cyane, cyangwa kugira ibisebe, ibi bishobora kuba ibimenyetso by'indwara idakunze kugaragara yitwa Leigh Syndrome. Ibi birababaje cyane, ariko ni ngombwa kubimenya.

Leigh Syndrome ni iki? Mu magambo make...

Leigh Syndrome, izwi kandi nka Leigh's Disease, ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Igira ingaruka cyane cyane ku mitsi yo hagati y'umwana wawe. Ni ukuvuga ubwonko, uruti rw'umugongo n'imitsi. Tekereza, umwana ufite iyi ndwara asa n'ufite ubuzima bwiza igihe kinini iyo avutse. Ariko uko igihe kigenda gihita, uturemangingo tw'imitsi ye tugenda ducika intege buhoro buhoro cyangwa ndetse tugapfa.

Ibi bimenyetso akenshi bitangira iyo umwana afite amezi agera kuri atatu, cyangwa mbere y'imyaka 2. Ibintu bya mbere uzabona ni ukugorwa no konka, kwanga kurya, kurira nta mpamvu, no gucika intege.

Ikibabaje ni uko nta muti urambye w’indwara ya Lee. Ni indwara ishobora gushyira ubuzima mu kaga. Abana benshi bafite iyi ndwara bapfa batarageza ku myaka 3. Ariko, ni gake cyane, iyi ndwara ishobora kugaragara ku bantu bakuru bakiri bato cyangwa abakuze.

Indwara za Mitochondria ni iki? Inganda zitanga ingufu z'imibiri yacu!

Kugira ngo tubisobanukirwe, tugomba kubanza kumenya bike kuri mitochondria . Muri make, mitochondria ni nk'inganda nto zitanga ingufu mu turemangingo tw'umubiri wacu. Izi ni zo zitanga ingufu ziturutse kuri aside irike na glucose mu byo turya maze zikabihinduramo ikintu cyitwa adenosine triphosphate (ATP) . Iyi ATP ni yo iha uturemangingo twacu ingufu zo gukora.

Mitochondria iboneka muri buri selile uretse selile zitukura zacu. Indwara za Mitochondria ni indwara zibaho iyo izi mitochondria zidakora neza. Selile ntizibona ingufu zikenewe, bigatuma selile zangirika cyangwa zipfa.

Uturemangingo tw’imitsi dukenera imbaraga nyinshi kugira ngo dukore. Muri Lee syndrome, uturemangingo tw’imitsi y’umwana, cyane cyane uturemangingo dutanga ingufu ku bwonko, imitsi, n’umugongo, birangirika cyangwa birangirika.

Ese hari andi mazina ya Leigh Syndrome?

Yego, iyi ndwara yabanje kwitwa izina n'umuganga w'Umwongereza Archibald Denis Leigh, wayisobanuye mu 1951. Yayise Subacute Necrotizing Encephalomyelopathy (SNE) .Encefalomyelopathy ni indwara ifata ubwonko n'umugongo. Nyamara, abaganga benshi muri iki gihe bayita indwara ya Lee syndrome cyangwa indwara ya Lee.

Ni ubuhe bwoko bw'ingenzi bwa Leigh Syndrome?

Hari ubwoko bwinshi bw'ingenzi bwa syndrome ya Lee:

• Indwara y'ibicurane by'abana: Iyi ni yo ndwara ikunze kugaragara cyane. Ibimenyetso bigaragara mbere y'uko umwana agira imyaka 2. Iyi ndwara yitwa kandi Classical Leigh Syndrome. Ifata abagabo n'abagore kimwe.
• Indwara ya Lee ifata abantu bakuru: Ibimenyetso bigaragara nyuma y'imyaka 2, rimwe na rimwe mu gihe cy'ubwangavu cyangwa mu gihe cy'ubukure. Ibi ni gake cyane. Ubu bwoko bw'indwara bukunze kwibasira abagabo. Nanone, indwara igenda buhoro kurusha iyo mu gihe cy'ubukure.
• Leigh-like syndrome: Muri iki gihe, umuntu ashobora kugaragaza bimwe mu bimenyetso bya Leigh syndrome, ariko scan zigaragaza ibimenyetso by'indwara mu bwonko ntizigaragaza ibimenyetso by'indwara.

Iyi ndwara ikunze kugaragara mu rugero rungana iki?

Indwara ya Lee yo mu gihe cya kera igaragara ku bana bavutse mu kigero cy'imyaka 40 ku isi. Ariko, ikunze kugaragara cyane mu duce tumwe na tumwe tw'isi. Urugero:

• Umwana umwe mu bana 2.000 bavutse mu gace ka Lac-Saint-Jean muri Quebec, muri Kanada.
• Umwana umwe mu bana 1,700 bavutse mu birwa bya Faroe, biri hagati ya Islande na Ecosse.

Impamvu nyayo y'ibi ntiraboneka.

Ni iki gitera Leigh Syndrome?

Impuguke zasanze indwara ya Lee ishobora guterwa n’impinduka mu turemangingo turenga 75. Izi mpinduka zigira ingaruka ku bushobozi bw’umubiri wacu bwo gukora ATP (ingufu).

Abana umunani kuri 10 barwaye indwara ya Lee bazungura iyi ndwara mu buryo bubiri bw'ingenzi:

1. Indwara yo mu mutwe (Autosomal recessive disorder): Muri ibi, umwana akura mu mihindukire y’uturemangingo imwe ku babyeyi bombi. Ababyeyi ni bo batwara iyi mihindukire gusa kandi nta ndwara bafite.

2. Indwara ya genetiki ifitanye isano na X: Iyi iterwa n’ihinduka rya chromosome X. Ishobora guturuka kuri nyina cyangwa se. Iyo umubyeyi afite iyi hinduka kuri imwe muri chromosomes ze za X, hari amahirwe 1 kuri 4 ko umuhungu we cyangwa umukobwa we azaragwa iyi hinduka. Iyo umuhungu ararazwe iyi hinduka, azarwara indwara ya Lee; umukobwa ntazayiragwa. Ariko, umukobwa ashobora kwanduza gene ifite inenge ku bana be bazavuka. Se ashobora kwanduza chromosome X yahindutse ku mukobwa we, ariko ntayihe umuhungu we.

Ni gute impinduka muri ADN ya mitochondrial zitera indwara ya Lee?

Abana bagera kuri 2 kuri 10 bafite ADN ya mitochondrial (mtDNA)Impinduka muri gene iragwa na nyina. Iyi mpinduka ishobora kwanduzwa abagabo n'abagore. Hanyuma ishobora kugira ingaruka ku bisekuru byose by'umuryango. Ni gake cyane, impinduka ya mtDNA ishobora kubaho. Impinduka ya mtDNA ikunze kugaragara muri Leigh syndrome ni iyo ibuza gene ya `MT-ATP6` gukora `ATP`.

Ni ibihe bimenyetso bya Leigh Syndrome?

Ibimenyetso bya Lee syndrome bikunze kugaragara mu myaka ibiri ya mbere y'ubuzima bw'umwana. Mu ntangiriro, umwana wawe ashobora kugera ku ntambwe zisanzwe z'iterambere, nko gushyira umutwe we hejuru. Hanyuma, agenda asubira inyuma buhoro buhoro, bivuze ko atakaza ubwo bushobozi cyangwa akagaragaza gutinda k'umubiri cyangwa iterambere.

Ibimenyetso bya mbere bya syndrome ya Lee birimo:

• Kugorwa no kumira ( dysphagia ), ibibazo byo konka cyangwa kugaburira nabi.
• Impiswi no kuruka.
• Kutagira imitsi ihagije ( hypotonia ).
• Kubura ituze kenshi no kurira buri gihe.
• Intege nke mu kugenzura umutwe no kugarura ubwenge.

Uko indwara ikomeza kwiyongera, hari n'ibindi bimenyetso bishobora kugaragara. Ibi bimenyetso bishobora no kugaragara mu byiciro bya nyuma bya Lee syndrome. Birimo:

• Indwara nk'indwara yo kwibagirwa .
• Ibibazo byo kugenda no kuringaniza imikorere, urugero nk'indwara yo kunanirwa kwifata (ataxia ) (gusitara mu gihe ugenda, gutakaza kuringaniza imikorere).
• Kugorwa no kuvuga amagambo neza ( dysarthria ).
• Kubyimba kw'imitsi ku bushake ( dystonia ).
• Kuziba cyangwa gukomera kw'imitsi ( spasticity ).
• Gupfa kw'igice cy'ubumuga.
• Intege nke z'imitsi mu maguru ( peripheral neuropathy ).
• Kubabara mu nda.
• Kugabanya imikurire y'umubiri.

Ni gute Leigh Syndrome igira ingaruka ku kureba?

Indwara ya Lee ishobora kandi kugira ingaruka ku mitsi yo mu maso, igatera ibibazo nka:

• Amaso afite uruhu ( strabismus ).
• Kugabanuka kw'amatwi y'amaso ( kugabanuka kw'imitsi y'amaso ).
• Intege nke cyangwa ubumuga bw'amaso.
• Ingendo z'amaso zihuta zitabishaka ( nystagmus ).
• Gutakaza ubushobozi bwo kureba.

Mu ntambwe za nyuma, abakiri bato cyangwa abantu bakuru barwaye indwara ya Lee bashobora kugira uburibwe bw'amabara no gutakaza ubushobozi bwo kureba hagati ( kureba nabi ).

Ni izihe ngorane zishobora guterwa na Leigh Syndrome?

Aside ya Lactic iterwa no kwirundanya kwa aside ya lactic mu maraso y'umwana bitewe na Lee syndrome.Ibi bishobora kubaho. Imibiri yacu ikora aside lactic iyo urugero rwa ogisijeni mu turemangingo rubaye hasi cyane ku buryo rudashobora gushyigikira imikorere yabyo (ihindura karubohidrati mo ingufu). Nanone, ingano ya dioxyde de carbone mu maraso yayo ishobora kwiyongera.

Aside ya Lactic hamwe n'ubwiyongere bw'umusemburo wa dioxyde de carbone bishobora gutera ibi bikurikira:

• Ingorane zo guhumeka: guhumeka nabi ( kubura umwuka ), guhagarika guhumeka by'agateganyo ( apnea ), no guhumeka kudasanzwe cyangwa vuba ( guhumeka cyane ).
• Indwara z'umutima: kubyimba kw'imitsi y'umutima ( hypertrophic cardiomyopathy ).
• Ibibazo by'impyiko.

Indwara ya Leigh ipimwa ite?

Muganga wawe ashobora gutumiza ibizamini nk'ibi bikurikira:

• Gupima amaraso: Reba ibimenyetso bya enzyme bigaragaza lactic acidosis na Leigh syndrome.
• Ibizamini byo gufata amashusho nka MRI (Magnetic Resonance Imaging) scan: Reba niba nta byangiritse ku ngingo z'ubwonko (ibisebe).
• Ibizamini bya Genetike: Kugira ngo hamenyekane neza impinduka za genetike zitera indwara.

Indwara ya Leigh ivurwa ite?

Ikibabaje ni uko nta muti urambye w’indwara ya Lee. Ubuvuzi bugamije ahanini kugenzura ibimenyetso no guhumuriza umwana. Iyi ni indwara yica.

Umwana wawe ashobora kuruhuka mu bintu nk'ibi:

• Kuvura aside ya lactic ukoresheje aside citric (sodium citrate) cyangwa sodium bicarbonate .
• Gutera inshinge za thiamine (Vitamine B1) kugira ngo bigabanye iterambere ry'indwara.

Bamwe mu bana bafite ikibazo cyo kubura imisemburo bashobora kungukirwa n'indyo irimo ibinure byinshi kandi irimo karubohidrati nke. Bamwe mu bana bafite ikibazo cyo kurya bashobora gukenera kugaburirwa binyuze mu muyoboro (`indyo y'imbere`).

Wakora iki niba umwana wawe afite Leigh Syndrome?

Kwita ku mwana ufite indwara ishobora kumubuza ubuzima bishobora kugorana. Dore bimwe mu bintu ushobora gukora kugira ngo ugabanye imihangayiko, guhangayika, no kwiheba ushobora kugira muri iki gihe:

• Shaka uburyo bwiza bwo kugabanya stress: nko kuganira n'inshuti cyangwa gukora ikintu ukunda.
• Jya mu itsinda ry’abaterankunga: Iri rishobora kuba itsinda ry’imbonankubone cyangwa iri kuri interineti. Kuganira n’abandi babyeyi bishobora kugufasha kumva utari wenyine.
• Menya neza uko umwana wawe amerewe, ibimenyetso bye byihariye, n'uko indwara igenda ikura.
• Fata umwanya wawe.Ushobora kwita ku mwana wawe neza gusa iyo umeze neza.
• Shaka serivisi z'ubufasha umwana wawe akeneye: nko kwita ku buzima bwo mu rugo no gusana abana.
• Vugana n'inzobere mu by'ubuzima bwo mu mutwe . Iki gihe ni kigoye cyane, bityo ntutindiganye gusaba ubufasha.

Ejo hazaza h'umuntu urwaye Leigh Syndrome ni he?

Abana benshi barwaye indwara ya Lee bapfa bazize kunanirwa guhumeka bafite imyaka 3. Ni gake cyane ko umwana urwaye indwara ya Lee atangira akiri muto abaho kugeza akuze. Abantu barwaye indwara ya Lee bamaze gukura bashobora kubaho kugeza ku myaka 50.

Ese Leigh Syndrome ishobora kwirindwa?

Niba ufite umwana urwaye indwara ya Lee syndrome, ushobora gupimwa ingirabuzimafatizo kugira ngo umenye niba wowe cyangwa umukunzi wawe mufite ihinduka ry’uturemangingo ribitera. Ushobora gufata icyemezo cyo guhura n’umujyanama mu by’uturemangingo kugira ngo muganire ku buryo bwo kugabanya ibyago byo kubyara abana bazaragwa iyo ndwara.

Ni ryari ukwiye kujya kwa muganga?

Niba umwana wawe afite kimwe muri ibi bimenyetso, hita ubonana na muganga:

• Gutinda mu mikurire cyangwa gutakaza ubushobozi bwari busanzweho.
• Kugorwa no guhumeka, kurya, cyangwa kumira.
• Kubabara mu nda.
• Kugabanya imikurire y'umubiri.

Ni iki ngomba kubaza muganga wanjye?

Ushobora kubaza muganga wawe ibibazo nk'ibi:

• Ni iki gituma umwana wanjye agira indwara ya Lee syndrome?
• Ni ubuhe buryo bwo kuvura bushobora gufasha umwana wanjye?
• Nakora iki kugira ngo mfashe umwana wanjye ari mu rugo?
• Ese njye n'umukunzi wanjye tugomba gupimwa imiterere y'uturemangingo?
• Ese nkwiye kumenya ibimenyetso by'ingorane?

Amaherezo, ibintu byo kwibuka (Ubutumwa bwo kujyana mu rugo)

Ni ibisanzwe kumva uremerewe kandi ubabaye iyo umenye ko umwana wawe afite indwara idasanzwe kandi ishobora kumuhitana . Ariko ibuka ko utari wenyine. Ni ngombwa gushaka abaganga bafite uburambe muri iyi ndwara. Kubera ko indwara ya Lee ishobora gufata ibice byinshi bitandukanye by'umubiri w'umwana wawe, harimo ubwonko, amaso, umutima n'impyiko, ushobora gukenera kubonana n'inzobere zitandukanye.

Aba baganga bashobora kugufasha guhangana n'ibimenyetso byawe no kuguhuza na serivisi z'ubufasha wowe n'umwana wawe mukeneye. Hanyuma ushobora kwishimira umwanya wawe hamwe n'umwana wawe uko bishoboka kose. Uru rugendo ruragoye, ariko uramutse uhawe urukundo, inkunga n'inama z'ubuvuzi zikwiye, uzagira imbaraga zo guhangana n'iki kibazo.

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