Koj tus menyuam puas muaj cov tsos mob no? Cia peb tham txog Leigh Syndrome!

Nws zoo siab heev uas pom ib tug menyuam mos tshiab, puas yog? Tab sis qee zaum, txawm tias lawv zoo li noj qab nyob zoo thaum xub thawj, lawv tuaj yeem pib qhia cov tsos mob txawv txawv tom qab ob peb lub hlis. Yog tias lawv muaj teeb meem pub niam mis, quaj ntau, lossis muaj qaug dab peg, cov no yuav yog cov cim ntawm tus mob caj ces tsis tshua muaj hu ua Leigh Syndrome. Qhov no ua rau mob siab heev, tab sis nws yog ib qho tseem ceeb uas yuav tsum paub txog nws.

Leigh Syndrome yog dab tsi? Hais yooj yim xwb...

Kab mob Leigh Syndrome, tseem hu ua Leigh's Disease, yog ib yam mob caj ces uas tsis tshua muaj. Nws feem ntau cuam tshuam rau koj tus menyuam lub paj hlwb hauv nruab nrab. Ntawd yog, lub hlwb, tus txha caj qaum, thiab cov hlab ntsha. Xav txog, ib tug menyuam uas muaj tus mob no zoo li noj qab nyob zoo feem ntau thaum nws yug los. Tab sis dhau sijhawm, cov hlwb hauv nws lub paj hlwb maj mam qaug zog lossis tuag.

Cov tsos mob no feem ntau pib thaum tus menyuam muaj li 3 lub hlis, lossis ua ntej hnub nyoog 2 xyoos. Thawj qhov koj yuav pom yog qhov nyuaj rau nqus mis, tsis kam noj mov, quaj tsis muaj laj thawj, thiab qaug dab peg.

Tu siab kawg li, tsis muaj tshuaj kho tau tus mob Lee syndrome no mus tas li. Nws yog ib yam mob uas ua rau tuag taus. Feem ntau cov menyuam yaus uas muaj tus mob no tuag ua ntej hnub nyoog 3 xyoos. Txawm li cas los xij, tsis tshua muaj neeg mob no tshwm sim rau cov hluas lossis cov neeg laus.

Cov Kab Mob Mitochondrial Yog Dab Tsi? Cov chaw tsim hluav taws xob ntawm peb lub cev!

Yuav kom nkag siab qhov no, peb yuav tsum paub me ntsis txog mitochondria ua ntej. Hais yooj yim xwb, mitochondria zoo li cov chaw tsim hluav taws xob me me hauv peb lub cev. Cov no yog cov uas tsim hluav taws xob los ntawm cov roj fatty acids thiab glucose hauv cov khoom noj uas peb noj thiab hloov nws mus ua ib yam khoom hu ua adenosine triphosphate (ATP) . ATP no yog qhov uas muab zog rau peb lub hlwb ua haujlwm.

Cov mitochondria pom muaj nyob rau hauv txhua lub cell tshwj tsis yog peb cov qe ntshav liab. Cov kab mob mitochondrial yog cov mob uas tshwm sim thaum cov mitochondria no tsis ua haujlwm zoo. Cov cell tsis tau txais lub zog uas lawv xav tau, uas ua rau cov cell puas tsuaj lossis tuag.

Peb lub paj hlwb xav tau ntau lub zog kom ua haujlwm tau. Hauv Lee syndrome, cov hlwb hauv lub paj hlwb ntawm tus menyuam, tshwj xeeb tshaj yog cov hlwb uas muab zog rau lub hlwb, cov hlab ntsha, thiab cov hlab ntsha qaum, raug puas tsuaj lossis raug rhuav tshem.

Puas muaj lwm lub npe rau Leigh Syndrome?

Yog lawm, tus kab mob no tau muab lub npe thawj zaug los ntawm tus kws kho mob Askiv Archibald Denis Leigh, uas tau piav qhia txog nws hauv xyoo 1951. Nws hu ua Subacute Necrotizing Encephalomyelopathy (SNE) .Kab mob Encephalomyelopathy yog ib yam kab mob uas cuam tshuam rau lub hlwb thiab tus txha caj qaum. Txawm li cas los xij, ntau tus kws kho mob niaj hnub no hu nws ua Lee syndrome lossis Lee kab mob.

Cov hom mob Leigh Syndrome tseem ceeb yog dab tsi?

Muaj ntau hom mob Lee syndrome:

• Kab Mob Leigh Me Nyuam Yaus: Qhov no yog hom kab mob uas tshwm sim ntau tshaj plaws. Cov tsos mob tshwm sim ua ntej tus menyuam muaj 2 xyoos. Qhov no kuj hu ua Classical Leigh Syndrome. Nws cuam tshuam rau ob leeg txiv neej thiab poj niam sib npaug.
• Kab mob Lee uas pib muaj rau cov neeg laus: Cov tsos mob tshwm sim tom qab muaj hnub nyoog 2 xyoos, qee zaum thaum lawv tseem hluas lossis thaum lawv laus. Qhov no tsis tshua muaj. Hom kab mob no feem ntau tshwm sim rau cov txiv neej. Tsis tas li ntawd, tus kab mob no qeeb dua li hom uas pib muaj thaum ntxov.
• Kab mob zoo li Leigh: Hauv qhov no, ib tus neeg yuav pom qee cov tsos mob ntawm Leigh syndrome, tab sis cov duab scans tsis qhia cov cim ntawm tus kab mob hauv lub hlwb.

Kab mob no feem ntau tshwm sim li cas?

Kwv yees li ntawm ib tug ntawm 40,000 tus menyuam mos uas muaj tus kab mob Classical (early) Lee syndrome no tshwm sim hauv ntiaj teb no. Txawm li cas los xij, nws feem ntau tshwm sim hauv qee thaj chaw. Piv txwv li:

• Muaj ib tug ntawm 2,000 tus menyuam mos hauv thaj tsam Lac-Saint-Jean ntawm Quebec, Canada.
• Muaj ib tug ntawm 1,700 tus menyuam mos hauv Faroe Islands, nyob nruab nrab ntawm Iceland thiab Scotland.

Qhov laj thawj tseeb rau qhov no tseem tsis tau pom.

Dab tsi ua rau muaj Leigh Syndrome?

Cov kws tshaj lij tau pom tias Lee syndrome tuaj yeem tshwm sim los ntawm kev hloov pauv hauv ntau dua 75 lub noob caj noob ces . Cov kev hloov pauv no cuam tshuam rau peb lub cev lub peev xwm los tsim ATP (zog).

Yim ntawm 10 tus menyuam uas muaj tus mob Lee syndrome no tau txais tus mob no los ntawm ob txoj kev tseem ceeb:

1. Kev mob autosomal recessive: Hauv qhov no, tus menyuam tau txais tib qho kev hloov pauv gene los ntawm ob niam txiv. Niam txiv tsuas yog tus nqa cov kev hloov pauv no thiab tsis muaj tus kab mob.

2. Kev mob caj ces uas txuas nrog X-linked recessive: Qhov no yog tshwm sim los ntawm kev hloov pauv ntawm X chromosome. Nws tuaj yeem los ntawm leej niam lossis leej txiv. Yog tias leej niam muaj qhov kev hloov pauv no ntawm ib qho ntawm nws cov X chromosomes, muaj 1 ntawm 4 lub sijhawm uas nws tus tub lossis tus ntxhais yuav tau txais qhov kev hloov pauv no. Yog tias tus tub tau txais qhov kev hloov pauv no, nws yuav muaj tus kab mob Lee; tus ntxhais yuav tsis muaj. Txawm li cas los xij, tus ntxhais tuaj yeem xa cov noob caj ces tsis zoo mus rau nws cov menyuam yav tom ntej. Leej txiv tuaj yeem xa cov X chromosome hloov pauv mus rau nws tus ntxhais, tab sis tsis yog rau nws tus tub.

Cov kev hloov pauv hauv mitochondrial DNA ua rau Lee syndrome li cas?

Kwv yees li ntawm 2 ntawm 10 tus menyuam muaj mitochondrial DNA (mtDNA)Kev hloov pauv hauv cov noob caj noob ces yog tau los ntawm niam. Qhov kev hloov pauv no tuaj yeem kis mus rau ob leeg txiv neej thiab poj niam. Tom qab ntawd nws tuaj yeem cuam tshuam rau txhua tiam neeg hauv tsev neeg. Tsis tshua muaj, kev hloov pauv mtDNA uas tshwm sim yam tsis tau npaj tseg tuaj yeem tshwm sim. Qhov kev hloov pauv mtDNA feem ntau pom hauv Leigh syndrome yog qhov uas tiv thaiv cov noob caj noob ces 'MT-ATP6' los ntawm kev tsim 'ATP'.

Cov tsos mob ntawm Leigh Syndrome yog dab tsi?

Cov tsos mob ntawm Lee syndrome feem ntau tshwm sim hauv ob xyoos thawj zaug ntawm tus menyuam lub neej. Thaum xub thawj, koj tus menyuam yuav ncav cuag cov theem kev loj hlob ib txwm muaj, xws li tsa lawv lub taub hau ncaj. Tom qab ntawd, lawv maj mam poob qis, txhais tau tias lawv poob cov peev xwm no lossis qhia txog kev qeeb ntawm lub cev lossis kev loj hlob.

Cov tsos mob thaum ntxov ntawm Lee syndrome muaj xws li:

• Nyuaj nqos ( dysphagia ), tsis nqus lossis muaj teeb meem pub mis.
• Raws plab thiab ntuav.
• Tsis muaj zog ntawm cov leeg nqaij ( hypotonia ).
• Ntshai tsis tu ncua thiab quaj tas li.
• Tsis muaj zog hauv kev tswj lub taub hau thiab reflexes.

Thaum tus kab mob loj zuj zus tuaj, tej zaum yuav muaj lwm cov tsos mob tshwm sim. Cov tsos mob no kuj tseem pom tau rau theem tom qab ntawm Lee syndrome. Lawv suav nrog:

• Ib yam mob zoo li dementia .
• Teeb meem kev txav mus los thiab kev sib npaug, piv txwv li ataxia (kev ntog thaum taug kev, poob kev sib npaug).
• Nyuaj hais cov lus kom raug ( dysarthria ).
• Cov leeg nqaij tsis kam ua haujlwm ( dystonia ).
• Cov leeg nqaij ntswj los yog mob nqaij ( spasticity ).
• Ib nrab tuag tes tuag taw.
• Cov hlab ntsha tsis muaj zog hauv cov ceg ( peripheral neuropathy ).
• Qaug dab peg.
• Kev loj hlob qeeb ntawm lub cev.

Leigh Syndrome cuam tshuam li cas rau qhov muag pom kev?

Lee syndrome kuj tseem tuaj yeem cuam tshuam rau cov hlab ntsha hauv qhov muag, ua rau muaj teeb meem xws li:

• Qhov muag sib tshuam ( strabismus ).
• Kev puas tsuaj ntawm lub qhov muag ( kev puas tsuaj ntawm cov hlab ntsha optic ).
• Qhov muag tsis muaj zog lossis tuag tes tuag taw.
• Kev txav ntawm lub qhov muag sai sai uas tsis kam lees ( nystagmus ).
• Tsis pom kev.

Thaum kawg, cov tub ntxhais hluas lossis cov neeg laus uas muaj tus mob Lee syndrome yuav dig muag xim thiab tsis pom kev zoo ( pom kev tsis meej ).

Cov teeb meem uas yuav tshwm sim ntawm Leigh Syndrome yog dab tsi?

Lactic acidosis yog ib qho mob uas lactic acid sib sau ua ke hauv cov ntshav ntawm tus menyuam vim yog Lee syndrome.Qhov no yuav tshwm sim tau. Peb lub cev tsim cov kua qaub lactic thaum cov pa oxygen hauv cov hlwb qis dhau los txhawb lawv cov metabolism (hloov cov carbohydrates mus ua zog). Tsis tas li ntawd, cov pa roj carbon dioxide hauv lawv cov ntshav tuaj yeem nce ntxiv.

Lactic acidosis thiab cov pa roj carbon dioxide ntau ntxiv tuaj yeem ua rau cov hauv qab no:

• Ua pa nyuaj: ua pa luv luv ( dyspnea ), ua pa tsis taus ib ntus ( apnea ), thiab ua pa tsis zoo lossis sai ( hyperventilation ).
• Kab mob plawv: cov leeg nqaij plawv tuab zuj zus ( hypertrophic cardiomyopathy ).
• Teeb meem raum.

Yuav kuaj mob Leigh Syndrome li cas?

Koj tus kws kho mob yuav xaj kom kuaj xws li cov no:

• Kev kuaj ntshav: Tshawb xyuas cov cim enzyme uas qhia txog lactic acidosis thiab Leigh syndrome.
• Kev kuaj duab xws li MRI (Magnetic Resonance Imaging): Tshawb xyuas seb puas muaj kev puas tsuaj rau cov ntaub so ntswg ntawm lub hlwb (cov qhov txhab).
• Kev kuaj mob caj ces: Txhawm rau nrhiav seb qhov kev hloov pauv caj ces twg ua rau muaj tus kab mob.

Yuav kho tus mob Leigh Syndrome li cas?

Tu siab kawg li, tsis muaj tshuaj kho tau tus mob Lee syndrome no mus tas li. Kev kho mob feem ntau yog tsom mus rau kev tswj cov tsos mob thiab muab kev nplij siab rau tus menyuam. Qhov no yog ib qho kab mob uas ua rau tuag taus.

Koj tus menyuam yuav pom qee qhov kev pab los ntawm tej yam xws li:

• Kho cov kab mob lactic acidosis nrog citric acid (sodium citrate) lossis sodium bicarbonate .
• Muab kev txhaj tshuaj thiamine (Vitamin B1) los pab qeeb qhov kev loj hlob ntawm tus kab mob.

Tej tus menyuam uas tsis muaj enzyme txaus yuav tau txais txiaj ntsig los ntawm kev noj zaub mov uas muaj roj ntau thiab carbohydrate tsawg. Tej tus menyuam uas muaj teeb meem noj mov yuav tsum tau pub mis los ntawm ib lub raj ('enteral nutrition').

Yog tias koj tus menyuam muaj Leigh Syndrome, koj ua tau dab tsi?

Kev saib xyuas ib tug me nyuam uas muaj mob uas yuav ua rau nws tuag taus yuav nyuaj heev. Nov yog qee yam uas koj ua tau los pab txo qhov kev ntxhov siab, kev ntxhov siab, thiab kev nyuaj siab uas koj yuav hnov ​​thaum lub sijhawm no:

• Nrhiav cov hau kev noj qab haus huv los txo kev ntxhov siab: xws li tham nrog ib tug phooj ywg lossis koom nrog ib yam dab tsi uas koj nyiam.
• Koom nrog ib pawg neeg txhawb nqa: Qhov no tuaj yeem yog ib pawg neeg uas ntsib tim ntsej tim muag lossis hauv online. Kev tham nrog lwm tus niam txiv tuaj yeem pab koj tsis txhob xav tias koj nyob ib leeg xwb.
• Paub txog koj tus menyuam tus mob, nws cov tsos mob tshwj xeeb, thiab kev nce qib ntawm tus kab mob.
• Nrhiav sijhawm rau koj tus kheej.Koj tsuas yog tuaj yeem saib xyuas koj tus menyuam tau zoo yog tias koj noj qab nyob zoo.
• Tau txais cov kev pabcuam txhawb nqa uas koj tus menyuam xav tau: xws li kev kho mob hauv tsev thiab kev kho kom rov zoo.
• Tham nrog ib tug kws kho mob hlwb . Lub sijhawm no nyuaj heev, yog li ntawd tsis txhob yig thov kev pab.

Yav tom ntej ntawm ib tug neeg uas muaj tus kab mob Leigh Syndrome yuav zoo li cas?

Feem ntau cov menyuam yaus uas muaj tus kab mob Lee syndrome tuag vim ua tsis taus pa thaum muaj hnub nyoog 3 xyoos. Nws tsis tshua muaj menyuam yaus uas muaj tus kab mob Lee syndrome uas pib muaj sia nyob mus txog thaum laus. Cov neeg uas muaj tus kab mob Lee syndrome thaum laus tuaj yeem nyob tau txog lawv lub hnub nyoog 50 xyoo.

Puas tiv thaiv tau Leigh Syndrome?

Yog koj muaj ib tug me nyuam uas muaj tus mob Lee syndrome, koj tuaj yeem kuaj xyuas seb koj lossis koj tus khub puas muaj qhov kev hloov pauv ntawm cov noob caj noob ces uas ua rau muaj qhov no. Koj tuaj yeem txiav txim siab ntsib tus kws pab tswv yim txog noob caj noob ces los tham txog txoj hauv kev los txo qhov kev pheej hmoo ntawm cov menyuam yav tom ntej uas yuav tau txais qhov kev hloov pauv no.

Thaum twg koj yuav tsum mus ntsib kws kho mob?

Yog koj tus menyuam muaj cov tsos mob no, mus ntsib kws kho mob tam sim ntawd:

• Kev loj hlob qeeb lossis poob ntawm cov peev xwm uas twb muaj lawm.
• Ua pa nyuaj, noj mov nyuaj, lossis nqos nyuaj.
• Qaug dab peg.
• Kev loj hlob qeeb ntawm lub cev.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Koj tuaj yeem nug koj tus kws kho mob cov lus nug zoo li no:

• Ua cas kuv tus menyuam thiaj muaj tus mob Lee syndrome?
• Cov kev kho mob twg yuav pab tau kuv tus menyuam?
• Kuv ua tau dab tsi los pab kuv tus menyuam hauv tsev?
• Kuv tus khub thiab kuv puas yuav tsum tau kuaj mob caj ces?
• Kuv puas yuav tsum paub txog cov cim qhia ntawm cov teeb meem?

Thaum kawg, tej yam yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Nws yog ib qho ib txwm muaj uas yuav xav tias ntxhov siab thiab tu siab thaum koj paub tias koj tus menyuam muaj tus mob tsis tshua muaj thiab ua rau tuag taus . Tab sis nco ntsoov tias koj tsis yog tib tug xwb. Nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev kho mob los ntawm cov kws kho mob uas muaj kev txawj ntse hauv tus mob no. Vim tias Lee syndrome tuaj yeem cuam tshuam rau ntau qhov ntawm koj tus menyuam lub cev, suav nrog lub hlwb, qhov muag, lub plawv, thiab lub raum, koj yuav tsum tau mus ntsib ntau tus kws tshwj xeeb sib txawv.

Cov kws kho mob no tuaj yeem pab koj tswj koj cov tsos mob thiab txuas koj nrog cov kev pabcuam txhawb nqa uas koj thiab koj tus menyuam xav tau. Tom qab ntawd koj tuaj yeem txaus siab rau koj lub sijhawm nrog koj tus menyuam ntau li ntau tau. Txoj kev taug kev no nyuaj, tab sis nrog kev hlub, kev txhawb nqa, thiab cov lus qhia kho mob zoo, koj yuav muaj lub zog los ntsib qhov kev cov nyom no.

Leigh syndrome, kab mob mitochondrial, kev puas tsuaj ntawm caj ces, kev noj qab haus huv ntawm menyuam yaus, kev loj hlob qeeb, lub paj hlwb, thiab lwm yam