Ingabe ingane yakho inalezi zimpawu? Ake sixoxe nge-Leigh Syndrome!

Kuyajabulisa kakhulu ukubona umntwana osanda kuzalwa, akunjalo? Kodwa ngezinye izikhathi, noma ngabe babonakala bephilile ekuqaleni, bangaqala ukukhombisa izimpawu ezingavamile ngemva kwezinyanga ezimbalwa. Uma benenkinga yokuncelisa, bekhala kakhulu, noma benesifo sokuwa, lokhu kungaba izimpawu zesimo esingavamile sofuzo esibizwa ngokuthi i-Leigh Syndrome. Lokhu kuyadabukisa ngempela, kodwa kubalulekile ukukuqaphela.

Iyini i-Leigh Syndrome? Kalula nje...

I-Leigh Syndrome, eyaziwa nangokuthi i-Leigh's Disease, iyisimo esingavamile kakhulu sofuzo. Sithinta kakhulu uhlelo lwezinzwa lomntwana wakho. Okusho ukuthi, ubuchopho, umgogodla, kanye nemizwa. Cabanga nje, umntwana onalesi simo ubonakala ephilile isikhathi esiningi lapho ezalwa. Kodwa ngokuhamba kwesikhathi, amangqamuzana ohlelweni lwakhe lwezinzwa kancane kancane aba buthaka noma aze afe.

Lezi zimpawu zivame ukuqala lapho umntwana esenezinyanga ezi-3 ubudala, noma ngaphambi kweminyaka emi-2 ubudala. Izinto zokuqala ozozibona ubunzima bokuncela, ukwenqaba ukudla, ukukhala ngaphandle kwesizathu, kanye nokuxhuzula.

Ngeshwa, ayikho ikhambi elihlala njalo le-Lee syndrome. Kuyisimo esisongela impilo. Iningi lezingane ezinalesi simo lifa ngaphambi kweminyaka emi-3. Kodwa-ke, akuvamile kakhulu, lesi simo singavela kubantu abadala abasebasha noma asebekhulile.

Ziyini Izifo Ze-Mitochondrial? Izimboni zamandla emizimbeni yethu!

Ukuze siqonde lokhu, sidinga ukwazi okuncane nge -mitochondria . Kalula nje, i-mitochondria ifana nezimboni ezincane zamandla ngaphakathi kwamaseli emizimba yethu. Lezi yizo ezikhiqiza amandla avela kuma-fatty acid kanye ne-glucose ekudleni esikudlayo bese zikuguqula kube yinto ebizwa ngokuthi i-adenosine triphosphate (ATP) . Le ATP yiyona enikeza amaseli ethu amandla okusebenza.

Ama-Mitochondria atholakala kuwo wonke amaseli ngaphandle kwamangqamuzana ethu abomvu egazi. Izifo ze-Mitochondria yizimo ezenzeka lapho la ma-mitochondria engasebenzi kahle. Amaseli awatholi amandla awadingayo, okubangela ukuthi amaseli onakale noma afe.

Uhlelo lwethu lwezinzwa ludinga amandla amaningi ukuze lusebenze. Ku-Lee syndrome, amangqamuzana ohlelweni lwezinzwa lwengane, ikakhulukazi amangqamuzana anikeza amandla ebuchosheni, ezinzwa, nasemgogodleni, ayalimala noma ayabhujiswa.

Ingabe akhona amanye amagama e-Leigh Syndrome?

Yebo, lesi sifo saqanjwa okokuqala ngudokotela waseBrithani u-Archibald Denis Leigh, owasichaza ngo-1951. Wasibiza ngokuthi yi -Subacute Necrotizing Encephalomyelopathy (SNE) .I-Encephalomyelopathy yisifo esithinta ubuchopho kanye nomgogodla. Kodwa-ke, odokotela abaningi namuhla bayibiza ngokuthi i-Lee syndrome noma isifo sikaLee.

Yiziphi izinhlobo eziyinhloko ze-Leigh Syndrome?

Kunezinhlobo eziningana eziyinhloko ze-Lee syndrome:

• I-Infantile Leigh Syndrome: Lolu uhlobo oluvame kakhulu. Izimpawu zivela ngaphambi kokuba ingane ibe neminyaka emi-2 ubudala. Lokhu kubizwa nangokuthi i-Classical Leigh Syndrome. Ithinta kokubili abesilisa nabesifazane ngokulinganayo.
• I-Adult-onset Lee syndrome: Izimpawu zivela ngemva kweminyaka engu-2, ngezinye izikhathi lapho umuntu esemusha noma esemdala. Lokhu akuvamile kakhulu. Lolu hlobo luthinta abesilisa kaningi. Futhi, lesi sifo siqhubeka kancane kunohlobo lokuqala kwasekuqaleni.
• I-Leigh-like syndrome: Kulesi simo, umuntu angabonisa ezinye zezimpawu ze-Leigh syndrome, kodwa ama-imaging scan awabonisi izimpawu zesifo ebuchosheni.

Sivame kangakanani lesi sifo?

I-Lee syndrome yakudala (yasekuqaleni) kulinganiselwa ukuthi yenzeka cishe koyedwa ezinsaneni ezisanda kuzalwa ezingu-40,000 emhlabeni jikelele. Kodwa-ke, ivame kakhulu kwezinye izindawo. Isibonelo:

• Ingane eyodwa kwezingu-2,000 ezisanda kuzalwa esifundeni saseLac-Saint-Jean eQuebec, eCanada.
• Ingane eyodwa kwezingu-1,700 ezisanda kuzalwa eziQhingini zaseFaroe, eziphakathi kwe-Iceland neScotland.

Isizathu esiqondile salokhu asikatholakali.

Yini ebangela i-Leigh Syndrome?

Ochwepheshe bathole ukuthi i-Lee syndrome ingabangelwa izinguquko ezakhiweni zofuzo ezingaphezu kuka-75 . Lezi zinguquko zithinta ikhono lemizimba yethu lokukhiqiza i-ATP (amandla).

Izingane eziyisishiyagalombili kweziyi-10 ezine-Lee syndrome zizuza lesi simo ngezindlela ezimbili eziyinhloko:

1. Isifo sokuwohloka kwezakhi zofuzo: Kulokhu, ingane izuza i-gene mutation efanayo kubazali bobabili. Abazali bangabathwali balesi shintsho kuphela futhi abanaso lesi sifo.

2. Isifo sofuzo esixhumene no-X: Lokhu kubangelwa ukuguquka kwezakhi zofuzo ku-chromosome X. Kungavela kumama noma kuyise. Uma umama enalolu guquko kwenye yama-chromosome akhe e-X, kunethuba elilodwa kwabane lokuthi indodana noma indodakazi yakhe izozuza lolu guquko. Uma umfana ezuza lolu guquko, uzoba ne-Lee syndrome; intombazane ngeke iluthole. Kodwa-ke, indodakazi ingadlulisela isakhi sofuzo esingalungile ezinganeni zayo zesikhathi esizayo. Ubaba angadlulisela i-chromosome ye-X eguquliwe endodakazini yakhe, kodwa hhayi endodaneni yakhe.

Izinguquko ku-DNA ye-mitochondrial ziyibangela kanjani i-Lee syndrome?

Cishe izingane ezimbili kweziyi-10 zine-DNA ye-mitochondrial (mtDNA)Uguquko ku-gene luzuzwa kumama. Lolu guquko lungadluliselwa kokubili kwabesilisa nabesifazane. Lungathinta zonke izizukulwane zomndeni. Akuvamile ukuthi kwenzeke uguquko lwe-mtDNA oluzenzakalelayo. Uguquko lwe-mtDNA oluvame kakhulu olubonakala ku-Leigh syndrome yilolo oluvimbela i-gene ye-`MT-ATP6` ekukhiqizeni i-`ATP`.

Ziyini izimpawu ze-Leigh Syndrome?

Izimpawu ze-Lee syndrome zivame ukuvela eminyakeni emibili yokuqala yokuphila komntwana. Ekuqaleni, ingane yakho ingafinyelela izigaba zokukhula ezijwayelekile, njengokuphakamisa ikhanda layo liqonde. Bese, ibuyela emuva kancane kancane, okusho ukuthi ilahlekelwa yilawa makhono noma ibonise ukubambezeleka ngokomzimba noma kokukhula.

Izimpawu zokuqala ze-Lee syndrome zifaka:

• Ubunzima bokugwinya ( i-dysphagia ), izinkinga zokumunca kahle noma zokondla.
• Uhudo nokuhlanza.
• Ukuntuleka kwethoni yemisipha ( hypotonia ).
• Ukungahlaliseki njalo nokukhala njalo.
• Ubuthakathaka ekulawuleni ikhanda kanye nokusabela okubukhali.

Njengoba lesi sifo siqhubeka, kungase kuvele ezinye izimpawu. Lezi zimpawu zingabonakala nasezigabeni zakamuva ze-Lee syndrome. Zihlanganisa:

• Isimo esifana ne- dementia .
• Izinkinga zokunyakaza kanye nokulinganisela, isibonelo i-ataxia (ukukhubeka ngenkathi uhamba, ukulahlekelwa yibhalansi).
• Ubunzima bokuphimisa amagama ngendlela efanele ( i-dysarthria ).
• Ukufinyela kwemisipha okungahleliwe ( i-dystonia ).
• Ukuqhaqhazela noma ukuqina kwemisipha ( ukuqaqamba ).
• Ukukhubazeka okuyingxenye.
• Ubuthakathaka bemizwa emalungeni ( i-peripheral neuropathy ).
• Ukudlikizela.
• Ukunciphisa ukukhula ngokomzimba.

I-Leigh Syndrome iyithinta kanjani indlela yokubona?

I-Lee syndrome ingathinta nezinzwa emehlweni, okubangela izinkinga ezifana nalezi:

• Amehlo aphambene ( strabismus ).
• Ukuwohloka kwe-optic ( ukuwohloka kwe-optic nerve ).
• Ubuthakathaka noma ukukhubazeka kwamehlo.
• Ukunyakaza kwamehlo okusheshayo okungahleliwe ( i-nystagmus ).
• Ukulahlekelwa umbono.

Ezigabeni zakamuva, intsha noma abantu abadala abane-Lee syndrome bangase babe nobumpumputhe bombala kanye nokulahlekelwa umbono ophakathi ( umbono ophansi ).

Yiziphi izinkinga ezingaba khona ze-Leigh Syndrome?

I-Lactic acidosis yisimo lapho i-lactic acid inqwabelana khona egazini lengane ngenxa ye-Lee syndrome.Lokhu kungenzeka. Imizimba yethu ikhiqiza i-lactic acid lapho amazinga omoya-mpilo emaseli eba phansi kakhulu ukusekela imetabolism yawo (ukuguqula ama-carbohydrate abe amandla). Futhi, inani le-carbon dioxide egazini labo linganda.

I-lactic acidosis kanye namazinga aphezulu e-carbon dioxide kungabangela okulandelayo:

• Ubunzima bokuphefumula: ukuphefumula okufushane ( ukuphelelwa umoya ), ukuyeka ukuphefumula okwesikhashana ( i-apnea ), kanye nokuphefumula okungavamile noma okusheshayo ( ukuphefumula ngokweqile ).
• Isifo senhliziyo: ukuqina kwemisipha yenhliziyo ( hypertrophic cardiomyopathy ).
• Izinkinga zezinso.

I-Leigh Syndrome ihlolwa kanjani?

Udokotela wakho angase acele ukuhlolwa okufana nalokhu:

• Ukuhlolwa kwegazi: Hlola izimpawu zama-enzyme ezibonisa i-lactic acidosis kanye ne-Leigh syndrome.
• Ukuhlolwa kwezithombe ezifana nokuskena kwe-MRI (Magnetic Resonance Imaging): Hlola umonakalo ezicutshini zobuchopho (izilonda).
• Ukuhlolwa kwezakhi zofuzo: Ukuthola ukuthi yikuphi ngempela ukuguquka kwezakhi zofuzo okubangela lesi sifo.

Iphathwa kanjani i-Leigh Syndrome?

Ngeshwa, ayikho ikhambi elihlala njalo le-Lee syndrome. Ukwelashwa kuhloselwe kakhulu ukulawula izimpawu nokunikeza induduzo enganeni. Lesi yisifo esibulalayo.

Ingane yakho ingathola impumuzo ezintweni ezifana nalezi:

• Yelapha i-lactic acidosis nge -citric acid (i-sodium citrate) noma i-sodium bicarbonate .
• Ukujova nge-thiamine (i-Vitamin B1) ukuze kuncishiswe ukuqhubekela phambili kwalesi sifo.

Ezinye izingane ezinesifo sama-enzyme zingase zizuze ekudleni okunamafutha amaningi, okungenama-carbohydrate amaningi. Ezinye izingane ezinenkinga yokudla zingase zidinge ukuphakelwa ngepayipi (`i-enteral nutrition`).

Yini ongayenza uma ingane yakho ine-Leigh Syndrome?

Ukunakekela ingane enesifo esivimbela impilo kungaba yinselele. Nazi ezinye izinto ongazenza ukuze unciphise ukucindezeleka, ukukhathazeka, kanye nokucindezeleka ongase uzizwe phakathi nalesi sikhathi:

• Thola izindlela ezinempilo zokunciphisa ukucindezeleka: njengokukhuluma nomngane noma ukwenza into oyithandayo.
• Joyina iqembu lokusekelana: Leli kungaba iqembu elihlangana ubuso nobuso noma eliku-inthanethi. Ukukhuluma nabanye abazali kungakusiza uzizwe ungedwa.
• Yazi kahle ngesimo sengane yakho, izimpawu zayo ezihlukile, kanye nokuqhubeka kwesifo.
• Zenzele isikhathi.Ungamnakekela kahle umntwana wakho kuphela uma uphilile.
• Thola izinsizakalo zokusekela ingane yakho ezidingayo: njengezinsizakalo zokunakekelwa kwempilo ekhaya kanye nokuvuselelwa.
• Khuluma nochwepheshe wezempilo yengqondo . Lesi isikhathi esinzima kakhulu, ngakho ungangabazi ukucela usizo.

Liyini ikusasa lomuntu one-Leigh Syndrome?

Iningi lezingane ezine-Lee syndrome lifa ngenxa yokwehluleka kokuphefumula lapho lineminyaka emi-3. Akuvamile kakhulu ukuthi ingane ene-Lee syndrome iqale ukusinda ize ibe umuntu omdala. Abantu abathola i-Lee syndrome lapho sebekhulile bangaphila baze bafike eminyakeni engu-50.

Ingabe i-Leigh Syndrome ingavinjelwa?

Uma unengane ene-Lee syndrome, ungathola ukuhlolwa kofuzo ukuthola ukuthi wena noma umlingani wakho ninayo yini i-gene mutation ebangela lokho. Unganquma ukuhlangana nomeluleki wezakhi zofuzo ukuze nixoxe ngezindlela zokunciphisa ingozi yokuthi izingane zesikhathi esizayo zizuze i-gene mutation.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inanoma yiziphi zalezi zimpawu, xhumana nodokotela ngokushesha:

• Ukubambezeleka kokukhula noma ukulahlekelwa amakhono akhona ngaphambilini.
• Ubunzima bokuphefumula, ukudla, noma ukugwinya.
• Ukudlikizela.
• Ukunciphisa ukukhula ngokomzimba.

Yini okufanele ngiyibuze udokotela wami?

Ungabuza udokotela wakho imibuzo efana nale:

• Yini ebangela ukuthi ingane yami ibe ne-Lee syndrome?
• Yimiphi imithi yokwelapha engasiza ingane yami?
• Yini engingayenza ukuze ngisize ingane yami ekhaya?
• Ingabe mina nomlingani wami kufanele sihlolwe izakhi zofuzo?
• Ingabe kufanele ngiqaphele izimpawu zezinkinga?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ukhungathekile futhi udabuke lapho uthola ukuthi ingane yakho inesifo esingavamile nesisongela impilo . Kodwa khumbula ukuthi awuwedwa. Kubalulekile ukufuna ukwelashwa kodokotela abanolwazi ngalesi simo. Ngenxa yokuthi i-Lee syndrome ingathinta izingxenye eziningi zomzimba wengane yakho, okuhlanganisa ubuchopho, amehlo, inhliziyo nezinso, kungadingeka ukuthi ubonane nochwepheshe abaningana abahlukene.

Laba odokotela bangakusiza ukuthi uphathe izimpawu zakho futhi bakuxhume nezinsizakalo zokusekela ozidingayo wena nomntanakho. Khona-ke ungajabulela isikhathi sakho nomntanakho ngangokunokwenzeka. Lolu hambo lunzima, kodwa ngothando, ukwesekwa, kanye neseluleko sezokwelapha esifanele, uzoba namandla okubhekana nale nselele.

i -leigh syndrome, isifo se-mitochondrial, ukuphazamiseka kwezakhi zofuzo, impilo yengane, ukubambezeleka kokukhula, isimiso sezinzwa, njll.