Ngaba unyana wakho unazo ezi ngxaki? Masithethe ngeBarth Syndrome!

Kunzima ukuchaza iimvakalelo ezinzima esizivayo njengabazali xa abantwana bethu begula, akunjalo? Ingakumbi ukuba yimeko engaqhelekanga neyinkimbinkimbi, uloyiko olusezintliziyweni zethu luyanda nangakumbi. Namhlanje siza kuthetha ngemeko engaqhelekanga kangaka, kodwa kubaluleke kakhulu ukuba wonke umntu ayiqaphele. Oku kubizwa ngokuba yiBarth Syndrome.

Yintoni iBarth Syndrome? Masiyiqonde ngokulula!

Ngamafutshane, iBarth syndrome yimeko engaqhelekanga kakhulu yemfuza . Ihlala ibonwa kubafana . Le meko inokuchaphazela amalungu abalulekileyo omzimba womntwana. Ezona ziphambili zezi:

• Ummongo wethambo
• Intliziyo
• Inkqubo yomzimba
• Izihlunu

Cinga nje, umzimba wethu ufana nomatshini ontsonkothileyo onamalungu amaninzi asebenzisanayo. Ngoko ke xa kuchaphazeleka iindawo ezininzi ezibalulekileyo, uphuhliso oluqhelekileyo lomntwana kunye nempilo yakhe inokuphazamiseka ngeendlela ezahlukeneyo.

Ngaba amantombazana awafumani isifo seBarth?

Le yingxaki abantu abaninzi abanayo. Enyanisweni, amathuba okuba intombazana ibe neBarth syndrome aphantsi kakhulu . Ngokwesiqhelo, amantombazana ane-gene mutation ebangela esi sifo akabonisi zimpawu. Babizwa ngokuba "ngabathwali." Oku kuthetha ukuba abanaso esi sifo, kodwa banokudlulisela esi sifo kubantwana babo. Ngamanye amazwi, inkwenkwe inamathuba amaninzi okufumana esi sifo njengelifa.

Ixhaphake kangakanani le meko?

I-Barth syndrome yimeko engaqhelekanga kakhulu . Ngokwezibalo, le meko ixelwa malunga nomnye kubantwana abangama-300,000 abazalwayo. Ngoko ke usenokungaziva kangako ngayo. Kodwa nangona ingaqhelekanga, kubaluleke kakhulu ukuba uyiqaphele.

Yintoni ebangela iBarth syndrome?

Eyona nto ibangela oku kukuguquka kwejini ebizwa ngokuba yiTafazzin (TAZ) . Le jini ebizwa ngokuba yiTAZ ikwi-chromosome X. Njengoko usazi, i-chromosome X yinto enefuthe elikhulu ekuphuhlisweni komzimba.

Omnye wemisebenzi ephambili ye-TAZ gene kukulawula ukuveliswa kweproteni efunekayo kwi -mitochondria , izityalo zamandla ezincinci ngaphakathi kwiiseli zethu ezivelisa amandla. Ezi mitochondria zikwabandakanyeka ekukhuleni kwamathambo.

Ngoko ke, xa kukho utshintsho kwi-TAZ gene, iproteni eyivelisayo ayisebenzi kakuhle. Oku kuthetha ukuba i-mitochondria ayinawo amandla aneleyo, okanye "amafutha," ukuze isebenze. Ngenxa yoko, izicubu ezifuna amandla angakumbi - njengentliziyo, izihlunu, kunye nenkqubo yomzimba yokuzikhusela - azikwazi ukusebenza kakuhle. Le yinkcazo esisiseko yebhayoloji ye-Barth syndrome.

Zithini iimpawu zeBarth syndrome?

Iimpawu zeBarth syndrome zingahluka kumntu nomntu. Kwakhona, ubukhali bezi mpawu bungahluka. Ezinye zeempawu eziqhelekileyo zezi:

• Amanqanaba aphezulu ngokungaqhelekanga e- 3-methylglutaconic aciduria, i-organic acid, kumchamo.
• I-dilated cardiomyopathy yimeko apho amagumbi asezantsi entliziyo akhula khona, nto leyo ethetha ukuba izihlunu zentliziyo ziba buthathaka kwaye zoluleke. Oogqirha bayibiza le cardiomyopathy edityanisiweyo .
• Usulelo oluqhelekileyo lweentsholongwane . Isizathu soku kukuba inkqubo yomzimba yokuzikhusela ayinamandla.
• Ukukhula okulibazisekileyo : Isenokuba mfutshane kwaye inobunzima obungaphantsi kobabanye abantwana abaneminyaka efanayo.
• Ubuthathaka bemisipha yentliziyo. Oku kubizwa ngokuba yi -cardiomyopathy .
• Ukwehla kwenani lee-neutrophils, uhlobo lweeseli ezimhlophe zegazi, egazini. Le meko ibizwa ngokuba yi -neutropenia . Oku kukwenza ube sesichengeni sosulelo.
• Izidlele ezibalaseleyo.
• Ukungabikho kwemisipha, ukuziva ubuthathaka. Oku kubizwa ngokuba yi -hypotonia .
• Ubuthathaka bemisipha yamathambo esinceda sishukumise imizimba yethu. Oku kubizwa ngokuba yi -skeletal myopathy .

Ezi mpawu zingabonakala ngokukhawuleza kangakanani?

Uninzi lwexesha, ezi mpawu ziyabonakala xa umntwana ezalwa . Nangona kunjalo, kwabanye abantwana, ezi mpawu zinokuvela emva kweenyanga ezimbalwa ezelwe. Ke ngoko, njengabazali, kufuneka sihlale sixhalabile ngophuhliso kunye nempilo yomntwana wethu.

Ziziphi iingxaki ezinokubakho zeBarth syndrome?

Abantwana abanale meko basengozini yeengxaki ezahlukeneyo, kuquka:

• Ubunzima bokutya kunye nokungondleki kakuhle .
• Urhudo oluqhelekileyo.
• Intloko ebuhlungu kunye nomzimba obuhlungu.
• Amanqanaba eswekile egazini aphantsi, oko kukuthi , i-hypoglycemia .
• Ukubhitya nokubuthathaka kwamathambo, oko kukuthi i-osteoporosis .
• Ukudinwa okungaqhelekanga, ukuziva udiniwe ( ukudinwa ).
• Ubunzima bokufunda obuncinci, ingakumbi kwizifundo ezifana nezibalo.
• Ukuvela rhoqo kwezilonda zomlomo (izilonda ze-canker).

Ezi ngxaki azenzeki kubo bonke abantu ngendlela efanayo, kodwa ukuzazi kunokukunceda uqalise unyango kwangethuba.

Ifunyanwa njani iBarth syndrome? (Ukuxilongwa)

Ukuba iimpawu zokuqala ze-Barth syndrome zibonwa kwangethuba, unyango lunokuqala kumntwana ngokukhawuleza. Oku kunokunceda ukulawula ukuqhubeka kweempawu kunye nokuthintela iingxaki.

Kunokufuneka iimvavanyo ezininzi ukuze kufunyanwe isifo ngokuchanekileyo. Umzekelo:

• Uvavanyo olubandakanya ukuthatha iqhekeza elincinci lemisipha yentliziyo okanye ezinye izihlunu zemisipha. Oku kubizwa ngokuba yi-biopsy.Elinye libizwa ngokuba leli. Oku kuhlola iziphene kwi-mitochondria kunye nezinye iingxaki.
• Uvavanyo lwe-Echocardiogram ukujonga ukusebenza kwentliziyo.
• Uvavanyo lwemfuza ukuqinisekisa utshintsho lwemfuza olubangela isifo sikaBarth.
• Uvavanyo lomchamo olufumanisa amanqanaba aphezulu e-organic acids kumchamo kunye namanqanaba aphantsi eeseli zenkqubo yomzimba yokuzikhusela (ingakumbi ii-neutrophils).

Ndingazi njani ukuba umntwana wam kufuneka avavanyelwe iBarth syndrome?

Ukuba umntwana wakho uneempawu zokulibaziseka kokukhula kunye neempawu ezinxulumene nobuthathaka bemisipha yentliziyo (cardiomyopathy) , kwaye oogqirha abakwazi ukufumana unobangela ocacileyo, banokucebisa ukuba avavanyelwe iBarth syndrome. Iimpawu ze-cardiomyopathy zingabandakanya isiyezi, ukubetha kwentliziyo okungahambelaniyo ( arrhythmia ), kunye nokuva isandi sentliziyo esingaqhelekanga ( i-heart murmur ).

Ziziphi iindlela zonyango lwe-Barth syndrome?

Le yeyona ngxaki inkulu abantu abaninzi abanayo. Ukuba ndithetha inyani, akukho nyango lweBarth syndrome okwangoku . Kodwa ungakhathazeki. Injongo ephambili yonyango kukuthintela nokunyanga iingxaki . Oku kunceda ukugcina umgangatho wobomi bomntwana kangangoko kunokwenzeka. Umntwana unokufuna unyango olufana nolu:

• Ii-antibiotics zosulelo.
• Amayeza avuselela ukuveliswa kweeseli ezimhlophe zegazi.
• Amayeza okulawula iingxaki zentliziyo. Imizekelo ibandakanya ii-ACE inhibitors, ii-diuretics, kunye nee-beta-blockers .
• Unyango lomzimba kunye nonyango lomsebenzi ukuze kuhlangatyezwane ngempumelelo nemingeni yophuhliso lomzimba.
• Kwimeko yokusilela okukhulu kwentliziyo, ukufakelwa intliziyo kungafuneka.

Eyona nto ibalulekileyo kukubonelela ngazo zonke ezi ndlela zonyango ngokweengcebiso zonyango nangendlela efanelekileyo kumntwana ngamnye.

Yintoni enye ebalulekileyo ekufuneka uyazi malunga nonyango lwe-Barth syndrome?

Kubalulekile ukuba nokuhlolwa rhoqo ukuze kujongwe indlela umntwana wakho asabela ngayo kunyango. Iimfuno zokhathalelo lomntwana wakho zinokutshintsha ngokuhamba kwexesha. Olu kuhlolwa rhoqo lwenza kube lula ukutshintsha unyango ngaphambi kokuba kuvele iingxaki.

Olu vavanyo lukwabandakanya uvavanyo lwegazi (uvavanyo lwelebhu) ukujonga ukusebenza kwenkqubo yomzimba yokuzikhusela. Ukuba inqanaba le-neutrophil liphantsi, amayeza okubulala iintsholongwane anokunikwa ukuthintela usulelo.

Ngaba i-Barth syndrome ingathintelwa?

I-Barth syndrome yimeko yemfuza . Oku kuthetha ukuba ifunyanwa njengelifa. Ngenxa yoko, umntwana one-Barth syndrome uya kuba nayo ubomi bakhe bonke.

Nangona kunjalo, ukuba ucinga ngokuqala usapho, okanye ukuba ulindele omnye umntwana, kwaye umntu kusapho lwakho une-Barth syndrome (imbali yosapho), uvavanyo lwe-genetic lunokuba luncedo kakhulu. Olu vavanyo lunokukuxelela ukuba wena neqabane lakho ningabathwali be-TAZ gene mutation. Ukuba ungumthwali, ungadibana nomcebisi we-genetic ukuze nixoxe ngamathuba okuba nomntwana one-Barth syndrome.

Ingakanani iminyaka yokuphila yabantu abane-Barth syndrome?

Ngaphambili, ubomi babantwana abanale meko babufutshane kakhulu. Babedla ngokufa besebancinci ngenxa yeengxaki zentliziyo. Nangona kunjalo, ngokufunyaniswa kwangoko kunye nonyango olufanelekileyo, izigulane ngoku ziphila ixesha elide . Ngokuhambela phambili kwesayensi, abantu abaninzi ngoku baphila bade bafikelele kwiminyaka yabo engama-40, kwaye ngamanye amaxesha nangaphezulu. Kukwakho nethemba lokuba unyango olutsha luya kufunyanwa kwixesha elizayo.

Kunjani ukuphila neBarth syndrome?

I-Barth syndrome inokuchaphazela ukukhula komntwana. Abantwana abaninzi bazalwa bebancinci kwaye basenokuba bafutshane xa sele bekhulile.

Ubuthathaka bemisipha kunye nezinye iingxaki zinokubangela ukulibaziseka ekukhuleni komzimba. Umzekelo, banokuba nobunzima bokukhasa, ukuhamba, kunye nokulinganisela. Basenokuziva bediniwe lula, ingakumbi emva kokwenza umthambo.

Nangona kunjalo, i-Barth syndrome ayisoloko iyichaphazela ingqondo yomntwana . Nangona kunjalo, kunokubakho imingeni emincinci ekusombululeni iingxaki zezibalo okanye ekuqondeni ezinye izifundo. Ke ngoko, abantwana abanjalo bafuna ingqalelo ekhethekileyo kunye nenkxaso.

Ndingamnceda njani umntwana wam ukuba alawule iingxaki zentliziyo ezibangelwa yiBarth syndrome?

Ukulandela indlela yokuphila enempilo kunokunciphisa uxinzelelo entliziyweni yomntwana ngandlela ithile.

• Nika ukutya okunempilo .
• Nciphisa ulwelo njengoko ugqirha wakho eyalele.
• Khuthaza ukwenza umthambo olula . Nangona kunjalo, kubalulekile ukubanika ixesha elaneleyo lokuphumla emva kwemisebenzi enjalo. Cinga ngezinto ezifana nokuhamba okufutshane okanye umdlalo ocothayo.

Okokugqibela, umyalezo oya ekhaya

I-Barth Syndrome sisifo semfuza esichaphazela intliziyo, amajoni omzimba, izihlunu, nokunye. Ichaphazela kakhulu abafana. Iimpawu zinokuvela ekuzalweni okanye kungekudala emva koko. Nangona iingxaki zentliziyo zinokunciphisa ixesha lobomi babantwana abane-Barth Syndrome, oku akusekho njalo.

Nangona kungekho ndlela ithile yokunyanga oku, ukuxilongwa kwangoko kunye nonyango olufanelekileyo kunokunciphisa umngcipheko weengxaki kwaye kwandise umgangatho wobomi.

Ngoko ke, ukuba ukrokrela ukuba umntwana wakho unale mpawu, musa ukoyika, kwaye cela ingcebiso kugqirha ofanelekileyo ngokukhawuleza. Kuba umzuzwana ngamnye ufanelekile.

Isifo sikaBarth, izifo zofuzo, izifo zobuntwana, izifo zentliziyo, inkqubo yomzimba yokuzikhusela, ubuthathaka bemisipha, i-TAZ gene