Ese umwana wawe afite ibi bimenyetso? Ese twagombye kumenya indwara ya Kearns-Sayre?

Ese umwana wawe rimwe na rimwe agaragaza ibimenyetso bidasanzwe udashobora kumva? Wenda wabonye ikintu nko kutabona neza, guhinduka gato mu kugenda, cyangwa kumva ufite intege nke mu mubiri wawe? Icyo gihe iki ni ikintu gishobora kuba ingenzi cyane kuri wewe. Hari igihe ibi bishobora kuba ibimenyetso by'indwara idakunze kugaragara, ariko ikwiye kumenyekana. Uyu munsi turaganira kuri imwe muri izo ndwara, yitwa Kearns-Sayre Syndrome.

Indwara ya Kearns-Sayre ni iki?

Mu magambo make, Kearns-Sayre Syndrome ni indwara idakunze kugaragara cyane ifata uturemangingo tw’imitsi n’imitsi. Nanone yitwa "KSS" mu magambo ahinnye. Ifata cyane cyane amaso. Ishobora kandi kugira ingaruka ku mutima, imitsi, n’imikorere y’ubwonko nko gutekereza no kwibuka. Akenshi, ibi bimenyetso bitangira kugaragara mbere y’imyaka 20 .

Iyi ni indwara ya mitochondria (indwara ya mitochondria) bivuze ko iyi ndwara iterwa n'ikibazo cy'uduce duto twitwa mitochondria mu turemangingo twacu. Ikibabaje ni uko nta muti wuzuye uraboneka kugeza ubu. Ariko, kuyimenya hakiri kare no kuyivura neza bishobora gufasha kugenzura ibimenyetso no kugumana ubuzima bwiza. Iyi ndwara yavumbuwe bwa mbere mu 1958 n'abaganga babiri bitwa Thomas P. Kearns na George Pomeroy Sayer. Niyo mpamvu yahawe iri zina. Ni indwara igenda irushaho kwiyongera uko igihe kigenda gihita.

Reka twige bike kuri mitochondria, iha umubiri wacu ingufu.

Noneho ushobora kuba wibaza icyo izi mitochondria ari cyo n'impamvu ari ingenzi cyane. Tekereza kuri ibi, mitochondria ni nk'inganda nto zitanga ingufu muri buri selile mu mubiri wacu (usibye uturemangingo dutukura). Kimwe na lisansi mu modoka, 90% by'ingufu umubiri wacu ukeneye kugira ngo ukore zikorerwa muri izi mitochondria. Izi nganda nto zifata intungamubiri mu byo turya, zigakoresha ogisijeni, hanyuma zikayihinduramo ingufu uturemangingo dushobora gukoresha.

Noneho, tekereza uko bigenda iyo izi mitochondria zidakora neza, cyangwa niba zangiritse? Hanyuma umubiri wacu ntubone ingufu ukeneye. Ibi bituma imikorere y'uturemangingo dutandukanye mu mubiri, ni ukuvuga uturemangingo, ingirabuzimafatizo, n'ingingo, ihungabana. Indwara za mitochondria ziragoye kuzisuzuma no kuzivura, kuko zigira ingaruka ku bice byinshi by'umubiri, atari kimwe gusa. Nubwo ibimenyetso by'izi ndwara bishobora gutandukana bitewe n'umuntu ku wundi, akenshi birushaho kuba bibi uko igihe kigenda gihita. By'umwihariko, imitsi n'uturemangingo tw'imitsi, dukenera imbaraga nyinshi, ni byo byangiritse cyane.

Ni ibihe bimenyetso by'iyi ndwara bishobora kuba?

Ibimenyetso bya Kearns-Sayer syndrome (KSS) akenshi bitangira umuntu atarageza ku myaka 20 , bibanza kugira ingaruka ku maso yombi. Uko igihe kigenda gihita, ibi rimwe na rimwe bishobora gutera ubuhumyi.

Ibimenyetso bya mbere bigira ingaruka ku maso:

• Kubura amaso: Kubona biragabanuka, cyane cyane mu mwijima, nko mu ijoro. Ibi biterwa no kwangirika kwa retina y'ijisho. Mu buvuzi, ibi byitwa `(pigmentary retinopathy)`.
• Ijisho rimanuka: Ijisho ryo hejuru ry'ijisho rimwe cyangwa yombi rimanuka mu buryo butunguranye. Ibi byitwa `(ptosis)`.
• Gucika intege cyangwa kudakora neza kw'imitsi y'amaso: Imitsi ikoreshwa mu kwimura amaso igenda icika intege buhoro buhoro. Ibi byitwa ``chronic progressive external ophthalmoplegia (CPEO)``. Ibi rimwe na rimwe bishobora gutuma bidashoboka guhindukiza amaso yombi mu cyerekezo kimwe.

Ibindi bimenyetso bitari amaso:

Iyi ndwara ntigarukira ku maso gusa, ishobora no gufata izindi ngingo nyinshi z'umubiri.

• Ubumuga: Kubura amatwi buhoro buhoro bigabanuka, ndetse ushobora no kuba igipfamatwi burundu.
• Kutabona neza cyangwa kubura ubwenge (dementia): Biba bigoye gutekereza, kumva no kwiga. Hari igihe no kubura ubwenge bishobora kubaho buhoro buhoro.
• Indwara z'umutima: Ubusembwa bw'umutima bushobora guterwa no kuziba kw'ibimenyetso by'amashanyarazi by'umutima. Ibi bishobora guteza akaga gakomeye.
• Kudahuza kw'imisemburo (imisemburo idahwitse): Urugero, diyabete ishobora kubaho. Hari n'ibindi bibazo bijyanye n'imisemburo.
• Poroteyine yiyongera mu mazi yo mu bwonko (CSF): Ibi bigaragazwa no gukubita umugongo.
• Ibibazo by'impyiko.
• Ibibazo byo kugenda no kuringaniza (ataxia): Kubura kuringaniza, gutsitara mu gihe ugenda, no kubura guhuza ingingo.
• Indwara zo mu mutwe: Ibi ni gake cyane.
• Mugufi: Kudakura muremure kurusha uko bisanzwe.
• Intege nke mu maboko no mu maguru: Amaguru yumva nta buzima afite, kandi imitsi iracika intege.

Tekereza umwana wawe yakundaga gukina cyane, akiruka hirya no hino akina. Ariko vuba aha, avuga ko atabona neza nijoro, afite ikibazo cyo kwita ku masomo, kandi ntacyumva afite imbaraga nk'uko yabikoraga iyo agenda. Ibi nibibaho, icy'ingenzi ni ukujya kwa muganga utirengagije.

Kuki indwara nk'iyi idasanzwe ibaho?

Kearns-Sayer syndrome (KSS) iterwa n'impinduka mu miterere ya ADN muri mitochondria, cyangwa ADN ya mitochondria (mtDNA) . Iyi mtDNA ni igice cy'akaremangingo gitwara imiterere ikenewe kugira ngo mitochondria ikore neza. Ariko, abashakashatsi ntibaramenya neza impamvu iyi mpinduka mu miterere ya ADN ibaho.

Igikuru ni uko, iyi si ikosa rya mama cyangwa papa.Akenshi, izi mpinduka mu ngirabuzimafatizo ziba umwana akiri mu nda. Hari igihe zihererekanywa kuva kuri nyina kugeza ku mwana (izungura rya nyina), ariko iyo ndwara ishobora no kubaho nta mateka y’umuryango. Gupima ngirabuzimafatizo bishobora gufasha kumenya niba ihinduka ry’ingirabuzimafatizo ari umurage cyangwa ari ikintu kidasanzwe.

Ni gute wasuzuma ibi neza neza?

Mu by’ukuri, indwara ya Kearns-Sayer Syndrome (KSS) ishobora kugorana kuyisuzuma kuko igira ingaruka ku mikorere y’umubiri myinshi. Ushobora kubona ibimenyetso bidasanzwe kuri wowe cyangwa ku mwana wawe. Cyangwa muganga ashobora kubona ibi bimenyetso mu gihe cyo gusuzumwa kwa muganga. Ariko, niba ubonye kimwe muri ibi bimenyetso, ni byiza guhita ubonana na muganga.

Abaganga bakora ibi bikurikira kugira ngo bapime iyi ndwara ya ``(KSS)``:

• Tuzagutega amatwi witonze amateka yawe y'ubuzima n'ibimenyetso by'uburwayi bwawe.
• Hakorwa isuzuma ryuzuye ry’umubiri.
• Ibindi bizamini: Ibizamini by'inkari, ibipimo by'amaso, ibipimo by'amatwi, ibipimo by'amaraso, ndetse n'ibipimo by'umugongo/umugongo bishobora gukorwa.
• Ubujyanama ku magenetike no gupima imiterere y’umubiri: Ibi bikorwa hifashishijwe ingero z’amaraso.

Byongeye kandi, muganga wawe ashobora gufata agace gato k'imitsi yawe akagasuzuma (biopsy y'imitsi) . Ibi bizareba ikintu cyitwa "udupira dutukura twanduye." Niba ibi bihari, bivuze ko uturemangingo tw'imitsi tuba tudasanzwe bitewe n'indwara ya mitochondrial.

Ibizamini nk'ibi bishobora gukorwa kugira ngo harebwe izindi ndwara:

• "CT scan"
• Electroencephalogram (EEG) (ikizamini gipima imikorere y'amashanyarazi y'ubwonko)
• Electroretinogram (ERG) (ikizamini gipima imikorere ya retina)
• `MRI` cyangwa `spectroscopy (MRS)`

Gutahura iyi ndwara hakiri kare ni ingenzi cyane kugira ngo ubuvuzi bugende neza. Niyo gusa iyo usuzumye neza indwara, wowe n'umwana wawe mushobora kubona ubuvuzi bukwiye.

Ese hari uburyo bwo kuvura ibi? Bicungwa gute?

Ikibabaje ni uko nta muti uhari wa Kearns-Sayer Syndrome (KSS). Ariko ntugahangayike. Gusuzuma indwara hakiri kare no kuyivura mu buryo bw’inyongera bishobora kugabanya ibyago byo kurwara. Muganga wawe ashobora kukugira inama yo kuvura indwara ishobora kugufasha wowe n’umwana wawe mu guhangana n’ibimenyetso bye no kunoza ubuzima bwe.

Ubufasha buturutse ku itsinda ry'abaganga b'inzobere

Kubera ko iyi ndwara igira ingaruka ku bice byinshi by'umubiri, bisaba inkunga y'itsinda ry'abaganga bafite inzobere mu nzego zitandukanye. Itsinda ryawe rishinzwe kuvura rishobora kuba rigizwe na:

• Inzobere mu by'amaso
• Inzobere mu by'amatwi `(umuhanga mu by'amatwi)`
• Inzobere mu by'umutima
• Inzobere mu by'imiti ikoreshwa mu ngirabuzimafatizo
• Inzobere mu by'imiterere y'ibinyabuzima
• Inzobere mu ndwara z'imitsi
• Umuvuzi w'inzobere mu by'ubuzima cyangwa umuhanga mu by'umubiri
• Inzobere mu buzima bwo mu mutwe (urugero: `umuganga w’indwara zo mu mutwe`)

Ni ubuhe buryo bwo kuvura?

Intego nyamukuru y'ubuvuzi ni ukugenzura ibimenyetso no kugabanya ingorane zishobora kubaho uko indwara igenda irushaho gukomera.

• Ubuvuzi bw'umubiri n'ubuvuzi bw'akazi: Ibi bifasha mu kubungabunga imikorere, imbaraga, no kuringaniza. Binagufasha gukora imirimo ya buri munsi ku giti cyawe.
• Imiti: Muganga wawe ashobora kukwandikira imiti ivura indwara z'umutima, ibibazo by'imisemburo, cyangwa ibimenyetso byo mu mutwe (urugero: kwiheba).

Byongeye kandi, muganga ashobora kukugira inama y'ibintu nk'ibi:

• Utwuma tw’amatwi cyangwa implants za cochlear (niba bikenewe na bamwe)
• Kubaga amaso mu buryo bworoshye cyangwa kubaga amenyo (blepharoplasty) bishobora gufasha mu gukomeza gufungura amaso iyo amaso aguye.
• Inyongera ya aside folike iyo urugero rwa folate mu mazi yo mu bwonko (CSF) ruri hasi.
• Uburyo bwo kuvura indwara zo kubura imisemburo.
• Insulini cyangwa indi miti ivura diyabete.
• Gutera pacemaker mu gihe hari ikibazo gishobora guteza akaga mu maraso y'umutima.

Gukurikiranwa buri gihe kwa muganga ni ingenzi ku muntu urwaye (KSS) kuko uko igihe kigenda gihita, uko ingingo zitandukanye z'umubiri zitakaza imikorere, ibimenyetso bishya bishobora kugaragara. Vugana na muganga wawe buri gihe ku byerekeye amahitamo yagufasha kugira ubuzima bwiza uko bishoboka kose, igihe cyose gishoboka.

Ubuzima bumeze bute muri iki kibazo? Ejo hazaza hazaba hameze hate?

Uko umuntu urwaye indwara ya Kearns-Sayer syndrome (KSS) ahagaze biterwa n'ubukana bw'ibimenyetso bye. Ariko, abantu benshi babana n'iyi ndwara mu myaka ibarirwa muri za mirongo. Uburyo bwo kuyivura bushobora kugufasha wowe n'umwana wawe kubaho ubuzima bwiza kandi burambye. Ntugacike intege.

Amaherezo, ibintu by'ingenzi cyane ugomba kwibuka

Sawa, rero ukurikije ibyo twavuze, ndizera ko wabonye ibisobanuro kuri Kearns-Sayre Syndrome. Ni indwara igoye cyane kandi idakunze kugaragara. Ariko ibuka:

• Kumenya indwara hakiri kare ni ingenzi cyane. Niba ufite ibimenyetso bidasanzwe, cyane cyane iyo bitangiye ukiri muto, nko kunanirwa kw'amaso, umutima, cyangwa imitsi, ntutinde gushaka inama kwa muganga.
• Iyi ni indwara iterwa n'uturemangingo, si ikosa ry'umuntu uwo ari we wese. Rero ntukiyicire urubanza.
• Nubwo nta muti wuzuye uhari, hari uburyo bwinshi bwo kuvura bushobora kugabanya ibimenyetso no kunoza ubuzima .
• Korana n'itsinda ry'abaganga b'inzobere kugira ngo utegure gahunda yihariye yo kuvura. Buri gihe kurikiza amabwiriza ya muganga wawe.
• Nubwo iki kibazo kitoroshye, ntabwo uri wenyine. Uramutse uhawe ubufasha n'amakuru akwiye, ushobora kubyihanganira.

Niba wowe cyangwa undi muntu uzi afite iki kibazo, ndizera ko aya makuru azabafasha. Komeza umenye amakuru, komeza ubuzima bwiza!

Kearns -Sayre Syndrome, mitochondria, impinduka mu miterere y'uturemangingo, indwara z'amaso, indwara z'umutima, intege nke z'imitsi, indwara z'imitsi