Ingaba umntwana wakho unazo ezi mpawu? Masithethe ngeLeigh Syndrome!

Kuyonwabisa kakhulu ukubona usana olusandul’ ukuzalwa, akunjalo? Kodwa ngamanye amaxesha, nokuba lubonakala luphilile ekuqaleni, lunokuqala ukubonisa iimpawu ezingaqhelekanga emva kweenyanga ezimbalwa. Ukuba lunengxaki yokuncancisa, lukhala kakhulu, okanye luxhuzula, ezi zinokuba ziimpawu zesifo esingaqhelekanga semfuza esibizwa ngokuba yiLeigh Syndrome. Oku kuyaphula intliziyo ngokwenene, kodwa kubalulekile ukukwazi.

Yintoni iLeigh Syndrome? Ngamafutshane...

I-Leigh Syndrome, eyaziwa ngokuba yiLeigh's Disease, yimeko engaqhelekanga kakhulu yemfuza. Ichaphazela kakhulu inkqubo yemithambo-luvo yomntwana wakho. Oko kukuthi, ingqondo, umqolo, kunye nemithambo-luvo. Khawuthelekelele, umntwana onesi sifo ubonakala esempilweni ixesha elininzi xa ezalwa. Kodwa ngokuhamba kwexesha, iiseli kwinkqubo yakhe yemithambo-luvo ziyathamba okanye zife kancinci kancinci.

Ezi mpawu zihlala ziqala xa umntwana eneminyaka emalunga neenyanga ezi-3 ubudala, okanye ngaphambi kokuba abe neminyaka emi-2 ubudala. Izinto zokuqala oza kuziqaphela kubunzima bokuncanca, ukwala ukutya, ukukhala ngaphandle kwesizathu, kunye nokuxhuzula.

Ngelishwa, akukho nyango lusisigxina lwe-Lee syndrome. Yimeko esongela ubomi. Uninzi lwabantwana abanale meko bafa bengekafiki kwiminyaka emi-3 ubudala. Nangona kunjalo, kunqabile kakhulu ukuba le meko ivele kubantu abadala abancinci okanye abadala.

Zithini izifo zeMitochondrial? Iifektri zamandla emizimba yethu!

Ukuze sikuqonde oku, kufuneka siqale sazi okuncinci nge -mitochondria . Ngamafutshane, i-mitochondria ifana neefektri zamandla ezincinci ngaphakathi kweeseli zemizimba yethu. Ezi zezo zivelisa amandla avela kwi-fatty acids kunye ne-glucose ekutyeni esikutyayo kwaye ziyiguqule ibe yinto ebizwa ngokuba yi-adenosine triphosphate (ATP) . Le ATP yiyo enika iiseli zethu amandla okusebenza.

I-Mitochondria ifumaneka kwiseli nganye ngaphandle kweeseli zethu ezibomvu zegazi. Izifo ze-Mitochondria ziimeko ezenzeka xa ezi mitochondria zingasebenzi kakuhle. Iiseli azifumani amandla eziwadingayo, nto leyo ebangela ukuba iiseli zonakale okanye zife.

Inkqubo yethu yemithambo-luvo ifuna amandla amaninzi ukuze isebenze. Kwi-Lee syndrome, iiseli kwinkqubo yemithambo-luvo yomntwana, ingakumbi iiseli ezinika amandla engqondweni, kwiimithambo-luvo, nakwi-spinal cord, zonakele okanye zitshatyalaliswe.

Ngaba kukho amanye amagama eLeigh Syndrome?

Ewe, esi sifo saqalwa sathiywa ngugqirha waseBritane u-Archibald Denis Leigh, owasichaza ngo-1951. Wasibiza ngokuba yi -Subacute Necrotizing Encephalomyelopathy (SNE) .I-Encephalomyelopathy sisifo esichaphazela ingqondo kunye nomqolo. Nangona kunjalo, oogqirha abaninzi namhlanje bayibiza ngokuba yi-Lee syndrome okanye isifo sikaLee.

Ziziphi iintlobo eziphambili zeLeigh Syndrome?

Kukho iintlobo ezininzi eziphambili ze-Lee syndrome:

• I-Infantile Leigh Syndrome: Olu lolona hlobo luqhelekileyo. Iimpawu zibonakala ngaphambi kokuba umntwana abe neminyaka emi-2 ubudala. Oku kukwabizwa ngokuba yiClassical Leigh Syndrome. Ichaphazela amadoda nabafazi ngokulinganayo.
• Isifo sikaLee sokuqalisa kwabadala: Iimpawu zibonakala emva kweminyaka emi-2, ngamanye amaxesha xa umntu efikisa okanye ebudaleni. Oku kunqabile kakhulu. Olu hlobo luchaphazela amadoda rhoqo. Kwakhona, esi sifo siqhubeka kancinci kunohlobo lokuqala kwasekuqaleni.
• I-Leigh-like syndrome: Kule meko, umntu unokubonisa ezinye zeempawu ze-Leigh syndrome, kodwa ii-imaging scans azibonisi zimpawu zesifo engqondweni.

Ixhaphake kangakanani le sifo?

I-Lee syndrome yakudala (yasekuqaleni) kuqikelelwa ukuba yenzeka kwiintsana ezisandul’ ukuzalwa ezingama-40,000 kwihlabathi liphela. Nangona kunjalo, ixhaphake kakhulu kwezinye iindawo zejografi. Umzekelo:

• Inkwenkwe enye kwi-2,000 ezisandul’ ukuzalwa kummandla waseLac-Saint-Jean eQuebec, eKhanada.
• Imveku enye kwi-1,700 ezisandul’ ukuzalwa kwiZiqithi zaseFaroe, eziphakathi kweIceland neScotland.

Isizathu esichanekileyo soku asikafunyanwa.

Yintoni ebangela iLeigh Syndrome?

Iingcali zifumanise ukuba i-Lee syndrome inokubangelwa kukuguquka kwezakhi zofuzo ezingaphezu kwama-75 . Ezi zakhi zofuzo zichaphazela amandla omzimba wethu okuvelisa i-ATP (amandla).

Abantwana abasibhozo kwabalishumi abane-Lee syndrome bazuza esi sifo ngeendlela ezimbini eziphambili:

1. Isifo sokuguguleka kwe-Autosomal: Kule meko, umntwana ufumana i-gene mutation efanayo kubazali bobabini. Abazali bangabathwali bolu tshintsho kuphela kwaye abanaso esi sifo.

2. Isifo semfuza esidityaniswe ne-X: Oku kubangelwa kukuguquka kwe-chromosome ye-X. Kungavela kumama okanye kutata. Ukuba umama une-mutation kwenye yee-chromosomes zakhe ze-X, kukho ithuba eli-1 kwabane lokuba unyana okanye intombi yakhe iza kufumana i-mutation. Ukuba inkwenkwe izuza le mutation, iya kuba ne-Lee syndrome; intombazana ayizukufumana. Nangona kunjalo, intombi inokudlulisela i-gene enesiphene kubantwana bayo bexesha elizayo. Utata unokudlulisela i-chromosome ye-X eguquliweyo kwintombi yakhe, kodwa hayi kunyana wakhe.

Utshintsho kwi-DNA ye-mitochondrial luyibangela njani i-Lee syndrome?

Malunga nabantwana ababini kwabalishumi bane -DNA ye-mitochondrial (mtDNA)Utshintsho kwijini lufunyanwa ngumama. Olu tshintsho lunokudluliselwa kumadoda nabasetyhini. Emva koko lunokuchaphazela zonke izizukulwana zosapho. Amaxesha amaninzi, utshintsho lwe-mtDNA oluzenzekelayo lunokwenzeka. Utshintsho oluqhelekileyo lwe-mtDNA olubonwa kwi-Leigh syndrome lolo luthintela ijini ye-`MT-ATP6` ekuveliseni i-`ATP`.

Zithini iimpawu zeLeigh Syndrome?

Iimpawu zesifo sikaLee zihlala zibonakala kwiminyaka emibini yokuqala yobomi bomntwana. Ekuqaleni, umntwana wakho unokufikelela kwinqanaba eliqhelekileyo lokukhula, njengokuphakamisa intloko yakhe. Emva koko, uyabuyela umva kancinci kancinci, oko kuthetha ukuba uyalahlekelwa zezi zakhono okanye abonise ukulibaziseka komzimba okanye kokukhula.

Iimpawu zokuqala ze-Lee syndrome ziquka:

• Ubunzima bokuginya ( i-dysphagia ), iingxaki zokunganyisi kakuhle okanye zokutyisa.
• Urhudo kunye nokuhlanza.
• Ukungabikho kwethoni yemisipha ( hypotonia ).
• Ukungazoli rhoqo kunye nokukhala rhoqo.
• Ubuthathaka ekulawuleni intloko kunye nokusabela ngokukhawuleza.

Njengoko isifo siqhubeka, ezinye iimpawu zinokuvela. Ezi mpawu zinokubonakala nakwizigaba zokugqibela zesifo sikaLee. Ziquka:

• Imeko efana ne -dementia .
• Iingxaki zokuhamba kunye nokulinganisela, umzekelo i-ataxia (ukukhubeka xa uhamba, ukulahlekelwa kukulinganisela).
• Ubunzima bokubiza amagama ngokuchanekileyo ( i-dysarthria ).
• Ukucutha kwemisipha okungenanjongo ( i-dystonia ).
• Ukushukuma okanye ukuqina kwemisipha ( ukuxinezeleka ).
• Ukukhubazeka okuncinci.
• Ubuthathaka bemithambo-luvo kwimilenze ( i-peripheral neuropathy ).
• Ukuxhuzula.
• Ukucotha kokukhula komzimba.

I-Leigh Syndrome iyichaphazela njani indlela yokubona?

I-Lee syndrome inokuchaphazela nemithambo-luvo emehlweni, ibangele iingxaki ezifana nezi:

• Amehlo anqamlezileyo ( i-strabismus ).
• Ukuwohloka kwamehlo ( i-optic nerve atrophy ).
• Ubuthathaka okanye ukukhubazeka kwamehlo.
• Iintshukumo zamehlo ezikhawulezayo ezizenzekelayo ( i-nystagmus ).
• Ukulahlekelwa ngumbono.

Kwinqanaba lokugqibela, abantu abaselula okanye abantu abadala abane-Lee syndrome banokuba nombono ongaboniyo kwaye balahlekelwe yimbono ephakathi ( umbono ophantsi ).

Ziziphi iingxaki ezinokubakho zeLeigh Syndrome?

I-lactic acidosis ibangelwa kukuqokelelana kwe-lactic acid egazini lomntwana ngenxa ye-Lee syndrome.Oku kunokwenzeka. Imizimba yethu ivelisa i-lactic acid xa amanqanaba eoksijini kwiiseli eba phantsi kakhulu ukuxhasa imetabolism yazo (ukuguqula iicarbohydrate zibe ngamandla). Kwakhona, ubungakanani bekhabhoni diokside egazini labo bunokwanda.

I-lactic acidosis kunye namanqanaba aphezulu e-carbon dioxide kunokubangela oku kulandelayo:

• Ubunzima bokuphefumla: ukuphefumla okufutshane ( ukuphelelwa ngamandla ), ukuyeka ukuphefumla okwethutyana ( i-apnea ), kunye nokuphefumla okungaqhelekanga okanye okukhawulezayo ( umoya ogqithisileyo ).
• Isifo sentliziyo: ukuqina kwemisipha yentliziyo ( hypertrophic cardiomyopathy ).
• Iingxaki zezintso.

Ifunyanwa njani iLeigh Syndrome?

Ugqirha wakho angayalela iimvavanyo ezifana nezi:

• Uvavanyo lwegazi: Jonga iimpawu ze-enzyme ezibonisa i-lactic acidosis kunye ne-Leigh syndrome.
• Uvavanyo lwemifanekiso olufana ne-MRI (Magnetic Resonance Imaging) scans: Jonga umonakalo kwizicubu zobuchopho (izilonda).
• Uvavanyo lwemfuza: Ukufumanisa ukuba loluphi utshintsho lwemfuza olubangela esi sifo.

Inyangwa njani iLeigh Syndrome?

Ngelishwa, akukho nyango luhlala luhleli lwesifo sikaLee. Unyango lujolise kakhulu ekulawuleni iimpawu kunye nokuthuthuzela umntwana. Esi sisifo esibulalayo.

Umntwana wakho unokufumana isiqabu kwizinto ezifana nezi:

• Nyanga i-lactic acidosis nge -citric acid (i-sodium citrate) okanye i-sodium bicarbonate .
• Ukunika inaliti ye-thiamine (iVitamin B1) ukuze kuncitshiswe ukuqhubela phambili kwesi sifo.

Abanye abantwana abanengxaki yokutya ii-enzymes banokungenelwa kukutya okunamafutha amaninzi, okune-carbohydrate ephantsi. Abanye abantwana abanengxaki yokutya banokufuna ukondliwa ngetyhubhu (`isondlo sangaphakathi`).

Yintoni onokuyenza ukuba umntwana wakho uneLeigh Syndrome?

Ukunyamekela umntwana onesifo esithintela ubomi bakhe kunokuba nzima. Nazi ezinye izinto onokuzenza ukunceda ukunciphisa uxinzelelo, ixhala, kunye nokudakumba onokuziva ngeli xesha:

• Fumana iindlela ezisempilweni zokunciphisa uxinzelelo: njengokuthetha nomhlobo okanye ukwenza into oyithandayo.
• Joyina iqela lenkxaso: Eli lingaba liqela eliqhutywa ubuso ngobuso okanye elikwi-intanethi. Ukuthetha nabanye abazali kunokukunceda uzive ungedwa.
• Yazi kakuhle imeko yomntwana wakho, iimpawu zakhe ezikhethekileyo, kunye nokuqhubela phambili kwesi sifo.
• Zenzele ixesha.Ungamnyamekela kakuhle umntwana wakho kuphela xa uphilile.
• Fumana iinkonzo zenkxaso umntwana wakho azidingayo: ezifana neenkonzo zonyango lwasekhaya kunye neenkonzo zokubuyisela kwimeko yesiqhelo.
• Thetha nengcali yezempilo yengqondo . Eli lixesha elinzima kakhulu, ngoko ungathandabuzi ukucela uncedo.

Liyintoni ikamva lomntu oneLeigh Syndrome?

Uninzi lwabantwana abane-Lee syndrome bafa ngenxa yokusilela kokuphefumla xa beneminyaka emi-3 ubudala. Akuqhelekanga ukuba umntwana one-Lee syndrome eqala kwangethuba aphile aze abe ngumntu omdala. Abantu abafumana i-Lee syndrome xa bebadala banokuphila bade bafikelele kwiminyaka engama-50 ubudala.

Ngaba iLeigh Syndrome ingathintelwa?

Ukuba unomntwana one-Lee syndrome, ungafumana uvavanyo lwemfuza ukuze ufumane ukuba wena okanye iqabane lakho ninayo na i-gene mutation ebangela loo nto. Ungagqiba ekubeni udibane nomcebisi wemfuza ukuze nixoxe ngeendlela zokunciphisa umngcipheko wokuba abantwana bexesha elizayo bafumane i-gene mutation.

Ufanele uye nini kugqirha?

Ukuba umntwana wakho unenye yezi mpawu, bonana nogqirha ngokukhawuleza:

• Ukulibaziseka kophuhliso okanye ukulahleka kwezakhono ebezikho ngaphambili.
• Ubunzima bokuphefumla, ukutya, okanye ukuginya.
• Ukuxhuzula.
• Ukucotha kokukhula komzimba.

Ndimele ndibuze ntoni kugqirha wam?

Ungabuza ugqirha wakho imibuzo efana nale:

• Yintoni ebangela ukuba umntwana wam abe ne-Lee syndrome?
• Zeziphi iindlela zonyango ezinokunceda umntwana wam?
• Ndingenza ntoni ukunceda umntwana wam ekhaya?
• Ngaba mna neqabane lam kufuneka sivavanywe ngemfuza?
• Ngaba kufuneka ndiqaphele iimpawu zeengxaki?

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuziva uxinezelekile kwaye ulusizi xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga nesisongela ubomi . Kodwa khumbula ukuba awuwedwa. Kubalulekile ukufuna unyango koogqirha abanolwazi ngale meko. Ngenxa yokuba i-Lee syndrome inokuchaphazela iindawo ezininzi ezahlukeneyo zomzimba womntwana wakho, kubandakanya ingqondo, amehlo, intliziyo kunye nezintso, kunokufuneka ubone iingcali ezahlukeneyo.

Aba gqirha banokukunceda ukulawula iimpawu zakho kwaye bakudibanise neenkonzo zenkxaso ozidingayo wena nomntwana wakho. Emva koko unokonwabela ixesha lakho nomntwana wakho kangangoko unako. Olu hambo lunzima, kodwa ngothando, inkxaso, kunye neengcebiso zonyango ezifanelekileyo, uya kuba namandla okujongana nalo mceli mngeni.

isifo se -leigh , isifo se-mitochondrial, isifo semfuza, impilo yomntwana, ukulibaziseka kokukhula, inkqubo yemithambo-luvo, njl.