Omwana wo alina obubonero buno? Ka twogere ku bulwadde bwa Leigh Syndrome!

Kisanyusa nnyo okulaba omwana eyaakazaalibwa, si bwe kiri? Naye oluusi, ne bwe baba nga balabika nga balamu mu kusooka, basobola okutandika okulaga obubonero obw’ekyewuunyo oluvannyuma lw’emyezi mitono. Singa baba n’obuzibu mu kuyonsa, bakaaba ennyo oba okukonziba, bino biyinza okuba obubonero bw’embeera y’obuzaale etali ya bulijjo eyitibwa Leigh Syndrome. Kino ddala kimenya omutima, naye kikulu okukimanya.

Obulwadde bwa Leigh Syndrome kye ki? Mu ngeri ennyangu...

Obulwadde bwa Leigh Syndrome obumanyiddwa nga Leigh’s Disease, mbeera ya buzaale etali ya bulijjo nnyo. Okusinga kukosa obusimu bw’omwana wo obw’omu makkati. Kwe kugamba, obwongo, omugongo, n’obusimu. Teebereza omwana alina embeera eno ebiseera ebisinga ng’azaalibwa alabika nga mulamu bulungi. Naye ekiseera bwe kigenda kiyitawo, obutoffaali obuli mu busimu bwe bunafuwa mpolampola oba ne bufa.

Obubonero buno butera okutandika ng’omwana awezezza emyezi nga 3, oba nga tannaweza myaka 2. Ebintu by’ogenda okusooka okwetegereza kwe kukaluubirirwa okuyonka, okugaana okulya, okukaaba awatali nsonga, n’okukonziba.

Ebyembi, tewali ddagala lya lubeerera eriwonya obulwadde bwa Lee. Embeera eyinza okutta omuntu. Abaana abasinga abalina embeera eno bafa nga tebannaweza myaka 3. Kyokka, si bulijjo nnyo, embeera eno esobola okubaawo mu bantu abakulu oba abakulu.

Endwadde za Mitochondrial kye ki? Amakolero g’amaanyi g’emibiri gyaffe!

Okusobola okutegeera kino, tulina okusooka okumanya katono ku mitochondria . Mu ngeri ennyangu, mitochondria ziringa amakolero amatonotono ag’amaanyi agali munda mu butoffaali bw’emibiri gyaffe. Zino ze zikola amaanyi okuva mu asidi z’amasavu ne glucose mu mmere gye tulya ne zigifuula ekintu ekiyitibwa adenosine triphosphate (ATP) . ATP eno y’ewa obutoffaali bwaffe amaanyi okukola.

Mitochondria zisangibwa mu buli katoffaali okuggyako obutoffaali bwaffe obumyufu. Endwadde za mitochondria mbeera ezibeerawo nga mitochondria zino tezikola bulungi. Obutoffaali tebufuna maanyi ge bwetaaga ekivaako obutoffaali okwonooneka oba okufa.

Enkola yaffe ey’obusimu yeetaaga amaanyi mangi okusobola okukola. Mu bulwadde bwa Lee syndrome, obutoffaali obuli mu busimu bw’omwana naddala obutoffaali obuwa obwongo, obusimu n’omugongo amaanyi, byonoonebwa oba busaanawo.

Waliwo amannya amalala agayitibwa Leigh Syndrome?

Yee, obulwadde buno bwasooka kutuumibwa musawo Omuzungu Archibald Denis Leigh, eyabunnyonnyola mu 1951. Yabuyita Subacute Necrotizing Encephalomyelopathy (SNE) .Encephalomyelopathy bulwadde obukwata obwongo n’omugongo. Kyokka abasawo bangi leero bakiyita Lee syndrome oba Lee disease.

Bika ki ebikulu eby’obulwadde bwa Leigh Syndrome?

Waliwo ebika ebikulu ebiwerako eby’obulwadde bwa Lee:

• Infantile Leigh Syndrome: Kino kye kika ekisinga okubeerawo. Obubonero bulabika ng’omwana tannaweza myaka 2. Kino era kiyitibwa obulwadde bwa Classical Leigh Syndrome. Bukwata abasajja n’abakazi kyenkanyi.
• Obulwadde bwa Lee obutandikira mu bantu abakulu: Obubonero bulabika oluvannyuma lw’emyaka 2, oluusi mu myaka gy’obuvubuka oba nga bukyali. Kino tekitera kubaawo nnyo. Ekika kino kikwata nnyo abasajja. Ate era, obulwadde buno bugenda mu maaso mpola okusinga ekika ekitandika amangu.
• Obulwadde bwa Leigh-like syndrome: Mu mbeera eno, omuntu ayinza okulaga obumu ku bubonero bw’obulwadde bwa Leigh syndrome, naye sikaani z’ebifaananyi teziraga bubonero bwa bulwadde buno mu bwongo.

Obulwadde buno butera kwenkana wa?

Obulwadde bwa Lee obwa classical (early) buteeberezebwa okuba mu baana nga omu ku buli baana 40,000 abaakazaalibwa mu nsi yonna. Kyokka, kisinga kubeera mu bitundu ebimu eby’ettaka. Okugeza nga:

• Omu ku baana 2,000 abaakazaalibwa mu kitundu kya Lac-Saint-Jean mu Quebec, Canada.
• Omu ku baana 1,700 abaakazaalibwa mu bizinga by’e Faroe, ebisangibwa wakati wa Iceland ne Scotland.

Ensonga entuufu evuddeko kino tennazuulibwa.

Kiki ekivaako obulwadde bwa Leigh Syndrome?

Abakugu bakizudde nti obulwadde bwa Lee buyinza okuva ku nkyukakyuka mu buzaale obusukka mu 75 . Enkyukakyuka zino zikwata ku busobozi bw’omubiri gwaffe okukola ATP (amaanyi).

Abaana munaana ku buli 10 abalina obulwadde bwa Lee basikira embeera eno mu ngeri bbiri enkulu:

1. Autosomal recessive disorder: Mu kino, omwana asikira enkyukakyuka y’obuzaale y’emu okuva mu bazadde bombi. Abazadde be basitula enkyukakyuka eno bokka era tebalina bulwadde buno.

2. X-linked recessive genetic disorder: Kino kiva ku nkyukakyuka mu X chromosome. Kiyinza okuva ku maama oba taata. Singa maama aba n’enkyukakyuka eno ku emu ku X chromosomes ze, waliwo omukisa gumu ku buli 4 nti mutabani we oba muwala we ajja kusikira enkyukakyuka eyo. Singa omulenzi asikira enkyukakyuka eno, ajja kufuna obulwadde bwa Lee syndrome; omuwala tajja. Kyokka omwana omuwala asobola okuyisa obuzaale obwo obulema mu baana be ab’omu maaso. Taata asobola okuyisa ekirungo kya X ekikyusiddwa eri muwala we, naye si ku mutabani we.

Enkyukakyuka mu DNA ya mitochondrial zireeta zitya obulwadde bwa Lee?

Abaana nga 2 ku buli 10 balina DNA y’omubiri (mtDNA) .Enkyukakyuka mu buzaale busikira okuva ku maama. Enkyukakyuka eno esobola okuyisibwa mu basajja n’abakazi. Olwo kiyinza okukosa emirembe gyonna egy’amaka. Tekitera kubaawo, enkyukakyuka ya mtDNA eyeetongodde eyinza okubaawo. Enkyukakyuka ya mtDNA esinga okulabibwa mu bulwadde bwa Leigh y’eyo eremesa obuzaale bwa `MT-ATP6` okukola `ATP`.

Bubonero ki obulaga obulwadde bwa Leigh Syndrome?

Obubonero bw’obulwadde bwa Lee butera okulabika mu myaka ebiri egisooka egy’obulamu bw’omwana. Mu kusooka, omwana wo ayinza okutuuka ku nkula ya bulijjo, gamba ng’okukwata omutwe gwe waggulu nga gugoloddwa. Olwo, zidda emabega mpolampola, ekitegeeza nti zifiirwa obusobozi buno oba okulaga okulwawo mu mubiri oba mu nkula.

Obubonero obusooka obw’obulwadde bwa Lee mulimu:

• Okukaluubirirwa okumira ( dysphagia ), obuzibu mu kunuuna obubi oba okuliisa.
• Ekiddukano n’okusiiyibwa.
• Obutabeera na ddoboozi lya binywa ( hypotonia ).
• Obutabeera na mirembe mingi n’okukaaba buli kiseera.
• Obunafu mu kufuga omutwe n’okukyusakyusa omutwe.

Obulwadde bwe bugenda bweyongera, obubonero obulala buyinza okulabika. Obubonero buno era busobola okulabibwa mu mitendera egy’oluvannyuma egy’obulwadde bwa Lee. Mulimu:

• Embeera nga obulwadde bw'okubulwa amagezi .
• Ebizibu by’okutambula n’okutebenkeza, okugeza ataxia (okwesittala ng’otambula, okubulwa bbalansi).
• Okukaluubirirwa okwatula ebigambo mu butuufu ( dysarthria ).
• Okukonziba kw’ebinywa mu ngeri etaali ya kyeyagalire ( dystonia ).
• Okunyiganyiga oba okukaluba kw’ebinywa ( spasticity ).
• Okusannyalala ekitundu.
• Obunafu bw’obusimu mu bitundu by’omubiri ( peripheral neuropathy ).
• Okukonziba.
• Okukendeera kw’okukula kw’omubiri.

Obulwadde bwa Leigh Syndrome bukosa butya okulaba?

Obulwadde bwa Lee syndrome era busobola okukosa obusimu mu maaso, ne buleeta obuzibu nga:

• Amaaso agasalagana ( strabismus ).
• Okukendeera kw’obusimu bw’amaaso ( optic atrophy ).
• Okunafuwa oba okusannyalala kw’amaaso.
• Okutambula kw’amaaso okw’amangu okutali kwa kyeyagalire ( nystagmus ).
• Okubulwa okulaba.

Mu mitendera egy’oluvannyuma, abavubuka oba abantu abakulu abalina obulwadde bwa Lee bayinza okuziba amaaso ga langi n’okubulwa okulaba wakati ( okulaba okutono ).

Bizibu ki ebiyinza okuva mu bulwadde bwa Leigh Syndrome?

Lactic acidosis mbeera nga asidi wa lactic azimba mu musaayi gw’omwana olw’obulwadde bwa Lee syndrome.Kino kiyinza okubaawo. Emibiri gyaffe gikola asidi wa lactic nga oxygen mu butoffaali efuuse wansi nnyo okusobola okuwagira metabolism yabwo (okukyusa carbohydrates okufuuka amaanyi). Ate era, omuwendo gwa kaboni dayokisayidi mu musaayi gwabwe guyinza okweyongera.

Lactic acidosis n’okweyongera kw’omuwendo gwa kaboni dayokisayidi bisobola okuleeta bino wammanga:

• Obuzibu mu kussa: okussa obubi ( dyspnea ), okulekera awo okussa okumala akaseera ( apnea ), n’okussa mu ngeri etaali ya bulijjo oba ey’amangu ( hyperventilation ).
• Obulwadde bw’omutima: okugonza kw’ebinywa by’omutima ( hypertrophic cardiomyopathy ).
• Obuzibu mu kibumba.

Obulwadde bwa Leigh Syndrome buzuulibwa butya?

Omusawo ayinza okulagira okukeberebwa nga bino:

• Okukebera omusaayi: Kebera oba waliwo obubonero obulaga enziyiza obulaga obulwadde bwa lactic acidosis ne Leigh syndrome.
• Okukebera ebifaananyi nga MRI (Magnetic Resonance Imaging) scans: Kebera oba ebitundu by’obwongo byonoonese (ebiwundu).
• Okukebera obuzaale: Okuzuula ddala enkyukakyuka mu buzaale ereeta obulwadde buno.

Obulwadde bwa Leigh Syndrome bujjanjabwa butya?

Ebyembi, tewali ddagala lya lubeerera eriwonya obulwadde bwa Lee. Obujjanjabi businga kugenderera kufuga bubonero n’okubudaabuda omwana. Buno bulwadde butta abantu.

Omwana wo ayinza okufuna obuweerero okuva mu bintu nga:

• Laba obulwadde bwa lactic acidosis ne citric acid (sodium citrate) oba sodium bicarbonate .
• Okuwa empiso za thiamine (Vitamin B1) okukendeeza ku kukula kw’obulwadde.

Abaana abamu abalina obuzibu bw’enziyiza bayinza okuganyulwa mu mmere erimu amasavu amangi ate nga terimu kaboni mungi. Abaana abamu abafuna obuzibu mu kulya bayinza okwetaaga okuliisibwa nga bayita mu ttanka (`enteral nutrition`).

Kiki ky’oyinza okukola singa omwana wo alina obulwadde bwa Leigh Syndrome?

Okulabirira omwana alina obulwadde obukomya obulamu bwe kiyinza okuba ekizibu. Bino bye bimu ku bintu by’oyinza okukola okuyamba okukendeeza ku situleesi, okweraliikirira n’okwennyamira by’oyinza okuwulira mu kiseera kino:

• Funa engeri ennungi ez’okukendeeza ku situleesi: gamba ng’okwogera ne mukwano gwo oba okwenyigira mu mulimu gw’onyumirwa.
• Weegatte ku kibiina ekiwagira: Kino kiyinza okuba ekibiina eky’omu buntu oba ku yintaneeti. Bw’oyogera n’abazadde abalala kiyinza okukuyamba obutawulira ng’oli wekka.
• Manya bulungi embeera y’omwana wo, obubonero bwe obw’enjawulo, n’engeri obulwadde gye bugenda mu maaso.
• Weefunire obudde.Osobola okulabirira obulungi omwana wo bw’oba ​​ng’oli bulungi.
• Funa empeereza y‟obuyambi omwana wo gy‟ayagala: gamba ng‟obujjanjabi bw‟awaka n‟obuweereza bw‟okuddaabiriza.
• Yogerako n'omukugu mu by'obulamu bw'obwongo . Kino kiseera kizibu nnyo, n’olwekyo tolwawo kusaba buyambi.

Ebiseera by’omu maaso by’omuntu alina obulwadde bwa Leigh Syndrome bye biruwa?

Abaana abasinga obungi abalina obulwadde bwa Lee bafa olw’okulemererwa okussa nga bawezezza emyaka 3. Si kya bulijjo nnyo omwana alina obulwadde bwa Lee obutandika amangu okuwangaala okutuuka mu bukulu. Abantu abafuna obulwadde bwa Lee syndrome nga bakuze basobola okuwangaala okutuuka mu myaka gyabwe egy’obukulu 50.

Obulwadde bwa Leigh Syndrome busobola okuziyizibwa?

Bw’oba ​​olina omwana alina obulwadde bwa Lee syndrome, osobola okwekebeza obuzaale okuzuula oba ggwe oba munno mulina enkyukakyuka mu buzaale obubuleeta. Oyinza okusalawo okusisinkana omukugu mu kubuulirira ku buzaale okukubaganya ebirowoozo ku ngeri y’okukendeeza ku bulabe bw’abaana ab’omu maaso okusikira enkyukakyuka eyo.

Ddi lw’osaanidde okulaba omusawo?

Omwana wo bw’aba alina obubonero buno, laba omusawo mu bwangu:

• Okulwawo kw’enkulaakulana oba okufiirwa obusobozi obwaliwo emabegako.
• Okukaluubirirwa okussa, okulya oba okumira.
• Okukonziba.
• Okukendeera kw’okukula kw’omubiri.

Kiki kye nsaana okubuuza omusawo wange?

Osobola okubuuza omusawo ebibuuzo nga bino:

• Kiki ekivaako omwana wange okulwala obulwadde bwa Lee?
• Bujjanjabi ki obuyinza okuyamba omwana wange?
• Kiki kye nnyinza okukola okuyamba omwana wange awaka?
• Nze ne munnange tulina okwekebeza obuzaale?
• Nsaanidde okumanya obubonero obulaga ebizibu?

N’ekisembayo, ebintu by’olina okujjukira (Obubaka bw’okutwala awaka) .

Kya bulijjo okuwulira ng’ozitoowereddwa era ng’olina ennaku ng’okitegedde nti omwana wo alina embeera etatera kubaawo ng’eyo era eyinza okutta obulamu bwe . Naye jjukira nti toli wekka. Kikulu okunoonya obujjanjabi okuva mu basawo abalina obukugu mu mbeera eno. Olw’okuba obulwadde bwa Lee busobola okukosa ebitundu by’omubiri gw’omwana wo eby’enjawulo omuli obwongo, amaaso, omutima n’ensigo, kiyinza okwetaagisa okulaba abakugu ab’enjawulo abawerako.

Abasawo bano basobola okukuyamba okuddukanya obubonero bwo n’okukuyunga ku mpeereza y’obuyambi ggwe n’omwana wo gye mwetaaga. Olwo osobola okunyumirwa ebiseera by’omala n’omwana wo nga bwe kisoboka. Olugendo luno luzibu, naye bw’oba ​​oyagala, obuwagizi, n’amagezi amatuufu ag’abasawo, ojja kuba n’amaanyi okusobola okwaŋŋanga okusoomoozebwa kuno.

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