Yintoni iTimothy Syndrome? Ngaba umntwana wakho unazo ezi ziphumo? Masithethe!

Ngaba ukhathazekile ngengxaki yentliziyo yomntwana wakho, okanye utshintsho kwinkangeleko yakhe okanye ekukhuleni kwakhe? Ngamanye amaxesha, unobangela oyintloko usenokuba yimeko yemfuza esingazange sive ngayo kakhulu. Enye yeemeko ezinqabileyo kodwa ezibalulekileyo ekufuneka sazi ngayo yiTimothy syndrome. Namhlanje, siza kuthetha ngayo ngokulula, ngendlela onokuyiqonda.

Yintoni iTimothy Syndrome?

Ngamafutshane, i-Timothy syndrome yimeko engaqhelekanga kakhulu yemfuza. Ingayichaphazela intliziyo yomntwana wakho, inkangeleko yakhe, inkqubo yemithambo-luvo, kunye nenkqubo yomzimba yokuzikhusela . Iimpawu zingahluka, kwaye abanye abantwana banokuba neengxaki zesingqisho sentliziyo ezisongela ubomi.

Ngubani ofumana oku? Kufunyanwa njani njengelifa?

Ngoku usenokuba uyazibuza, 'Ngubani ofumana oku?' I-Timothy syndrome yimeko yemfuza, ngoko ke nabani na angayifumana. Kwenzeka ngolu hlobo:

• Ngokwesiqhelo, umntwana kufuneka azuze esi sifo kumzali omnye kuphela, esibizwa ngokuba yi-autosomal dominant inheritance.
• Ngamanye amaxesha, ngokumangalisayo, umntwana unokufumana esi sifo kumzali ongenazo iimpawu. Oku kungenxa yokuba i-gene echaphazelekayo isenokuba ikhona kwiiseli ezithile zomzimba womzali, kungekhona kuzo zonke iiseli . Oku kubizwa ngokuba yimeko ye-'mosaic'.
• Nangona kunjalo, ngenxa yobunzima bezi mpawu, kunqabile kakhulu ukuba umntu one-Timothy syndrome adlulisele olu jini kwisizukulwana esilandelayo.
• Izihlandlo ezininzi, le meko ibangelwa lutshintsho olutsha lwemfuza, olungenambali yosapho . Oko kukuthi, ngenxa yotshintsho olutsha lwemfuza.

Kuqheleke kangakanani oku?

Xa ucinga ngendlela exhaphake ngayo, i-Timothy syndrome yimeko engaqhelekanga kakhulu . Bangaphantsi kwe-100 abantu abaziwayo ukuba banayo kwihlabathi liphela. Ngoko ke akuthethwa kakhulu ngayo.

Zithini iimpawu zeTimothy Syndrome?

Ezi mpawu zinokwahluka ukusuka komnye umntwana ukuya komnye, kwaye ubukhali beempawu bunokwahluka. Umntwana wakho usenokuba neempawu ezithile, kodwa asenokungabi nazo. Ezi mpawu zichaphazela kakhulu intliziyo, inkangeleko yomzimba, kunye neminye imisebenzi yomzimba .

Iimpawu ezichaphazela intliziyo

Iimpawu ezinxulumene nentliziyo zezona zinto zibalulekileyo ekufuneka ziqwalaselwe, kuba ezi zinokuba yingozi ebomini.

• Usenokubona ukubetha kwentliziyo okukhawulezayo okanye okungahambelaniyo (ii-palpitations) xa ubeka isandla sakho esifubeni somntwana wakho.
• Ukulahlekelwa yingqondo ngequbuliso (i-syncope) .

Oku kungenxa yokuba:

• Ukuphumla ixesha elide phakathi kokubetha kwentliziyo. Oogqirha bakubiza oku ngokuthi 'yi-QT ende'.
• Isifo sentliziyo esizalwa naso (isiphene kwisakhiwo sentliziyo esikhoyo ekuzalweni) sinokuchaphazela amandla entliziyo okupompa igazi.
• Ukungalungelelani kwentliziyo (arrhythmia) .
• Amagumbi asezantsi entliziyo (ii-ventricles) abetha ngokukhawuleza kakhulu (`ventricular tachycardia`) . Oku kuyingozi kakhulu.

Khumbula, ezi mpawu zinxulumene nentliziyo zingasongela ubomi . Kufuneka ulumke kakhulu ngale nto kuba ingakhokelela ekumisweni yintliziyo ngesiquphe (ukuminywa yintliziyo) okanye nokufa ngequbuliso.

Iimpawu ezinxulumene nenkangeleko yomzimba

Abantwana abane-Timothy syndrome baneempawu ezithile zomzimba ezibonakalayo xa bezalwa:

• Ulusu oluphakathi kweminwe ludibene (`cutaneous syndactyly`) . Njengedada. Lunokwenzeka kuzo zombini izandla neenyawo.
• Ukuthamba kwebhulorho phakathi kwempumlo .
• Iindlebe zibekwe phantsi kunesiqhelo .
• Ukutyunyuzwa komhlathi ongaphezulu .
• Ukuncitshiswa komlomo ongasentla .
• Ukutshixiza amazinyo nokugoba .
• Ukungabikho kweenwele, ngokungathi unempandla xa uzalwa .

Iimpawu ezichaphazela iinkqubo zomzimba

Le meko ikwachaphazela iindawo zengqondo yomntwana ezilawula ezinye zeenkqubo zomzimba. Ngoko ke, ungabona neempawu ezifana nezi:

• Ukulibaziseka kokukhula kunye neengxaki zokusebenza kwengqondo . Ukuthetha nokuhamba kunokulibaziseka xa kuthelekiswa nabanye abantwana.
• Usulelo oluqhelekileyo . Ngenxa yokungabikho komzimba oqinileyo, izifo zisasazeka lula.
• Amanqanaba aphantsi eswekile egazini (hypoglycemia) .
• Ukwehla kobushushu bomzimba (i-hypothermia) .
• Ukuxhuzula ngesiquphe (oku kukwabizwa ngokuba yi-epileptic okanye i-photosensitive epilepsy) .
• Ubunzima bokunxibelelana nokuba nobudlelwane nabanye abantu (i-autism spectrum disorder) . Basenokuziva ngathi bakwihlabathi labo.

Yintoni ebangela iTimothy Syndrome?

Ukuba sijonga unobangela woku, i-Timothy syndrome ibangelwa lutshintsho lwemfuza okanye utshintsho kwi-gene `CACNA1C` . Le gene isiyalela ukuba senze iproteni ethwala ii-calcium ions kwiiseli zethu zentliziyo (cardiomyocytes) nakwiiseli zethu zobuchopho (neurons).

Khawucinge nje, iproteni eveliswa yi-gene ye-`CACNA1C` ifana nocango. Olu cango luyavuleka luze luvale, luvumela ii-athomu ze-calcium ukuba zingene ziphume kwiseli. Xa kukho utshintsho lwe-genetic, olu cango luhlala luvuliwe ngaphandle kokuvala ngokufanelekileyo . Emva koko i-calcium iqhubeka ingena kwiseli. Xa le calcium ininzi iqokelelana, iimpawu ze-Timothy syndrome ziyavela, kwaye ezinye zeenkqubo zomzimba azisebenzi ngokufanelekileyo.

Ezi athom zekhalsiyam zibaluleke kakhulu emzimbeni wethu:

• Lawula umsebenzi wombane weeseli.
• Iiseli ziyanxibelelana.
• Nceda izihlunu ziqine.
• Izakhi zofuzo zolawulo ezinxulumene nophuhliso lobuchopho namathambo ngexesha lesigaba somntwana osandul’ ukuzalwa.

Oogqirha bayixilonga njani le nto?

I-Timothy syndrome inokufunyanwa ngaphambi okanye emva kokuzalwa .

• Ngexesha lokuhlolwa kwe-ultrasound ngelixa umntwana esesesibelekweni , ugqirha uya kujonga ukuba ukubetha kwentliziyo yomntwana kuqhelekile na. Isingqisho sentliziyo esingaqhelekanga esinxulunyaniswa ne-Timothy syndrome kukubetha kwentliziyo okucothayo kwi-fetus (fetal bradycardia) .
• Emva kokuba umntwana ezelwe, uvavanyo lwe-`EKG` (i-Electrocardiogram) lunokwenziwa ukujonga isingqisho sentliziyo yomntwana.

Ukongeza, ezi mvavanyo zikwanceda ukuqinisekisa le meko:

• Uvavanyo lwemfuza ukuze kuchongwe imfuza ebangela iimpawu .
• Ezinye iimvavanyo zokujonga imifanekiso (umz. i-MRI, i-CT scan, i-X-ray) .
• Ukuhlolwa ngugqirha wentliziyo ukujonga impilo yentliziyo .
• Uvavanyo lwengcali yezifo zengqondo ukujonga ukusebenza kwenkqubo yemithambo-luvo .
• Uvavanyo lwegazi ukuze kubonwe ukuba kukho ezinye iimpawu .

Zithini iindlela zonyango zoku?

Eyona nto iphambili kunyango lwe-Timothy syndrome kukulawula iimpawu ezinokuba yingozi ebomini ezichaphazela intliziyo :

• Amayeza okulawula isantya sentliziyo (umz. `beta-blockers`) .
• Ukusebenzisa i-cardioverter defibrillator (ICD) okanye i-pacemaker efakelweyo . Ezi zinceda ukubuyisela isigqi sentliziyo ukuba ngequbuliso iba yinto engaqhelekanga.

Ukongeza, kukho unyango lwezinye iimpawu ezinokuchaphazela umntwana:

• Ukunika amayeza okubulala iintsholongwane ukunyanga izifo .
• Ukulungiswa kotyando lokunamathela kwesikhumba phakathi kweminwe .
• Jonga rhoqo amanqanaba eswekile egazini .
• Ukudluliselwa kwiinkqubo zemfundo ekhethekileyo ukunceda ubunzima bokufunda bomntwana .

Ngaba kukho naziphi na iingxaki kunyango?

Abantwana abane-Timothy syndrome basengozini enkulu yokuhlaselwa sisifo sentliziyo kunye neengxaki zentliziyo xa befumana i-anesthesia . Oku kuyinyani ngakumbi kumayeza e-anesthesia andisa ixesha le-QT. Ke ngoko, kubalulekile ukwazisa ugqirha wakho ngale nto ngaphambi kokuba wenze utyando.

Ngaba i-Timothy Syndrome ingathintelwa?

I-Timothy syndrome ayisiyonto inokuthintelwa.Kuba oku kubangelwa kukuguquka kwezakhi zofuzo. Ungayizuza njengelifa, okanye ingakhula ngequbuliso ngaphandle kwembali yosapho.

Nangona kunjalo, ukuba uceba ukukhulelwa kwaye ufuna ukwazi umngcipheko wokuba nomntwana onesifo semfuza esifana ne-Timothy syndrome, ungathetha nogqirha wakho malunga neengcebiso zemfuza kunye novavanyo lwemfuza .

Kuza kwenzeka ntoni ukuba umntwana wam uneTimothy Syndrome?

Akukho nyango lwale meko, kodwa unyango lunokunciphisa iimpawu ezisongela ubomi bomntwana kwaye luphucule umgangatho wobomi bakhe .

Ingqikelelo yabantwana abanesifo sentliziyo esinzima ayilunganga . Ngenxa yeemeko ezifana ne-arrhythmias okanye i-ventricular tachycardia, umngcipheko wokufa ebuntwaneni umalunga ne-80% . Oku kuyadanisa ukuva, kodwa kubalulekile ukwazi inyaniso.

Nangona kunjalo, kwiimeko ezingembi kangako ze-Timothy syndrome, isiphumo sinokuba ngcono .

Umnyamekela njani umntwana onesi sifo?

Ngenxa yokuba iimpawu ze-Timothy syndrome zinokuba yingozi ebomini, kubalulekile ukubona ugqirha womntwana wakho rhoqo ukuze ajonge impilo yakhe iyonke, ingakumbi impilo yentliziyo yakhe . Ukuhlolwa rhoqo kunokunceda ekuchongeni nasekunyangeni naziphi na iimpawu ezintsha kwangethuba.

Ukuba umntwana wakho ulibazisekile ekukhuleni okanye uneengxaki zokufunda, iinkqubo zemfundo ekhethekileyo okanye unyango oluxhasayo lunokunceda umntwana wakho ngomsebenzi wesikolo .

Ndifanele ndimse nini umntwana wam kugqirha? Ndingenza ntoni xa kukho imeko engxamisekileyo?

Ukuba umntwana wakho uneempawu ze-Timothy syndrome, ezifana nosulelo, ubunzima bokugcina ubushushu bomzimba, okanye iswekile ephantsi rhoqo egazini , qiniseka ukuba ubona ugqirha.

Iimpawu ezinzulu ngakumbi, ezinje ngokuxhuzula kunye nokubetha kwentliziyo okungaqhelekanga (ingakumbi ukuba ukubetha kwentliziyo kukhawuleza kakhulu okanye kungaqhelekanga) , zinokuba yingozi ebomini kwaye zifuna unyango olukhawulezileyo . Ukuba oku kuyenzeka, yiya kwigumbi likaxakeka (ER) okanye utsalele umnxeba ku-911.

Yeyiphi imibuzo omele uyibuze ugqirha womntwana wakho?

Kungcono ukubuza ugqirha womntwana wakho imibuzo efana nale:

• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kumayeza owanike wona?
• Ngaba umntwana wam udinga utyando?
• Ingaba umntwana wam uphilile ngokwaneleyo ukuba angatyandwa?
• Ndingazijonga njani iimpawu zomntwana wam?

Ukujongana nesifo esingaqhelekanga semfuza kunokuba ngumceli mngeni kubazali abatsha nabantwana babo. Kubalulekile ukuhlala ujonge impilo yomntwana wakho, ingakumbi ukuze ubone ukuba unyango lulawula iimpawu kwaye lunyusa ixesha umntwana wakho anokulichitha nawe. Njengoko ucinga ngokhathalelo lomntwana wakho, cinga ngawe nosapho lwakho. Kubalulekile ukuthetha nomcebisi wezempilo yengqondo ofanelekileyo ukuze unciphise uxinzelelo kunye nexhala, kwaye ufunde indlela onokumnceda ngayo umntwana wakho.

Khumbula ezi zinto (Umyalezo Wokuya Ekhaya)

I-Timothy syndrome yimeko engaqhelekanga kakhulu, kodwa iyingozi kakhulu kwimfuza.

• Hlala ulukhumbula olu phawu, kuba lunefuthe elikhulu entliziyweni .
• Iimpawu ziyahluka ukusuka kumntwana ukuya komnye .
• Ukuxilongwa kwangoko kunye nonyango olufanelekileyo kunokuphucula umgangatho wobomi bomntwana.
• Kubaluleke kakhulu ukulandela iingcebiso zonyango kwaye ungaphoswa ziimvavanyo ezicwangcisiweyo .
• Awuwedwa kolu hambo. Fumana inkxaso koogqirha, abacebisi, kunye nabantu obathandayo .

I - Timothy syndrome, i-Timothy syndrome, izifo zemfuza, izifo zentliziyo, izifo zobuntwana, ukulibaziseka kokukhula, i-CACNA1C gene, izifo ezingaqhelekanga