Iyini i-Timothy Syndrome? Ingabe ingane yakho inale miphumela? Ake sixoxe!

Ingabe ukhathazekile ngenkinga yenhliziyo yengane yakho, noma ushintsho ekubukekeni noma ekukhuleni kwayo? Ngezinye izikhathi, imbangela eyinhloko ingaba yisimo sofuzo esingakazwa kakhulu ngaso. Esinye isimo esingavamile kodwa esibalulekile okufanele sazi ngaso yi-Timothy syndrome. Namuhla, sizokhuluma ngayo kalula, ngendlela ongayiqonda.

Iyini i-Timothy Syndrome?

Kalula nje, i-Timothy syndrome iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo. Ingathinta inhliziyo yengane yakho, ukubukeka kwayo, isimiso sezinzwa kanye nesimiso somzimba sokuzivikela . Izimpawu zingahlukahluka, futhi ezinye izingane zingaba nezinkinga zesigqi senhliziyo ezisongela ukuphila.

Ubani othola lokhu? Kuzuzwa kanjani njengefa?

Manje ungase uzibuze, 'Ubani othola lokhu?' I-Timothy syndrome iyisimo sofuzo, ngakho noma ubani angasithola. Kwenzeka kanje:

• Ngokuvamile, ingane kumele ithole lesi simo kumzali oyedwa kuphela, okubizwa ngokuthi ifa eliyi-autosomal dominant.
• Ngezinye izikhathi, ngokumangazayo, ingane ingazuza lesi simo kumzali ongenazo izimpawu. Lokhu kungenxa yokuthi i-gene ethintekile ingaba khona emaseli athile omzimba womzali kuphela, hhayi kuwo wonke amaseli . Lokhu kubizwa ngokuthi isimo 'se-mosaic'.
• Kodwa-ke, ngenxa yobukhulu balezi zimpawu, akuvamile kakhulu ukuthi umuntu one-Timothy syndrome adlulisele lesi sakhi sofuzo esizukulwaneni esilandelayo.
• Ngokuvamile, lesi simo senzeka ngenxa yohlobo olusha lwezakhi zofuzo, olungenawo umlando womndeni . Okusho ukuthi, ngenxa yoshintsho olusha lwezakhi zofuzo.

Kuvamile kangakanani lokhu?

Uma sibheka ukuthi sivame kangakanani, i-Timothy syndrome iyisimo esingavamile kakhulu . Abantu abangaphansi kwekhulu emhlabeni wonke abaziwa ukuthi banaso. Ngakho-ke akukhulunywa kakhulu ngaso.

Ziyini izimpawu ze-Timothy Syndrome?

Lezi zimpawu zingahluka kusuka komunye umntwana kuya komunye, futhi ubukhulu bezimpawu bungahluka. Ingane yakho ingaba nezimpawu ezithile, kodwa ingase ingabi nazo. Lezi zimpawu zithinta kakhulu inhliziyo, ukubukeka komzimba, kanye neminye imisebenzi yomzimba .

Izimpawu ezithinta inhliziyo

Izimpawu ezihlobene nenhliziyo ziyinto ebaluleke kakhulu okufanele uyiqaphele, njengoba zingaba yingozi empilweni.

• Ungase uqaphele ukushaya kwenhliziyo okusheshayo noma okungajwayelekile (ukushaya kwenhliziyo) uma ubeka isandla sakho esifubeni sengane yakho.
• Ukulahlekelwa yingqondo ngokuzumayo (i-syncope) .

Lokhu kungenxa yokuthi:

• Ukuphumula isikhathi eside phakathi kokushaya kwenhliziyo. Odokotela bakubiza lokhu ngokuthi 'i-QT ende'.
• Isifo senhliziyo esizalwa naso (isici esakhiweni senhliziyo esikhona lapho umuntu ezalwa) singathinta ikhono lenhliziyo lokupompa igazi.
• Isigqi senhliziyo esingajwayelekile (i-arrhythmia) .
• Amakamelo angezansi enhliziyo (ama-ventricle) ashaya ngokushesha kakhulu (`i-ventricular tachycardia`) . Lokhu kuyingozi kakhulu.

Khumbula, lezi zimpawu ezihlobene nenhliziyo zingaba yingozi empilweni . Udinga ukuqaphela kakhulu ngalokhu ngoba kungaholela ekumisweni kwenhliziyo ngokuzumayo (ukuminywa kwenhliziyo) noma ngisho nokufa ngokuzumayo.

Izici ezihlobene nokubukeka komzimba

Izingane ezine-Timothy syndrome zinezici ezithile zomzimba ezibonakalayo lapho zizalwa:

• Isikhumba esiphakathi kweminwe sihlangene (`cutaneous syndactyly`) . Njengedada. Singenzeka kuzo zombili izandla nezinyawo.
• Ukugoba kwebhuloho eliphakathi kwamakhala .
• Izindlebe zibekwe phansi kunezivamile .
• Ukuchotshozwa komhlathi ongaphezulu .
• Ukuncipha komlomo ongaphezulu .
• Ukugaya amazinyo nokugoba .
• Ukuntuleka kwezinwele, njengokungathi unempandla lapho uzalwa .

Izimpawu ezithinta izinhlelo zomzimba

Lesi simo sithinta nezingxenye zobuchopho bengane ezilawula ezinye zezinhlelo zomzimba. Ngakho-ke, ungase ubone nezimpawu ezifana nalezi:

• Ukulibaziseka kokukhula kanye nezinkinga zokusebenza kwengqondo . Ukukhuluma nokuhamba kungase kubambezeleke uma kuqhathaniswa nezinye izingane.
• Ukutheleleka okuvamile . Ngenxa yokuntuleka kwamasosha omzimba, izifo zisakazeka kalula.
• Amazinga kashukela aphansi egazini (hypoglycemia) .
• Ukwehla kwezinga lokushisa lomzimba (i-hypothermia) .
• Ukuwa kwesifo sokuwa (lokhu kungabizwa nangokuthi isifo sokuwa noma isifo sokuwa esithinta ukukhanya) .
• Ubunzima bokuxhumana nokuba nobudlelwano nabanye abantu (i-autism spectrum disorder) . Bangase bazizwe sengathi basemhlabeni wabo.

Yini ebangela i-Timothy Syndrome?

Uma sibheka imbangela yalokhu, i-Timothy syndrome ibangelwa ukuhlukahluka kwezakhi zofuzo noma ukuguquka kwezakhi zofuzo `CACNA1C` . Lesi sakhi sofuzo sisiyala ukuba senze iphrotheni ethwala ama-ion e-calcium iye emaseli enhliziyo yethu (ama-cardiomyocytes) nasemaseli ethu obuchopho (ama-neurons).

Cabanga nje, iphrotheni ekhiqizwa yi-gene ye-`CACNA1C` ifana nomnyango. Lo mnyango uyavuleka futhi uvale, uvumela ama-athomu e-calcium ukuthi angene futhi aphume esitokisini. Uma kukhona ukuguquka kwezakhi zofuzo, lo mnyango uhlala uvulekile ngaphandle kokuvala kahle . Ngemuva kwalokho i-calcium igeleza njalo esitokisini. Lapho le calcium eningi iqoqana, kuvela izimpawu ze-Timothy syndrome, futhi ezinye zezinhlelo zomzimba azisebenzi kahle.

Lawa ma-athomu e-calcium abaluleke kakhulu emzimbeni wethu:

• Lawula umsebenzi kagesi wamaseli.
• Amaseli ayaxhumana.
• Siza imisipha ukuthi ifinyele.
• Lawula izakhi zofuzo ezihlobene nokukhula kobuchopho namathambo ngesikhathi sesigaba sombungu.

Odokotela bakuthola kanjani lokhu?

I-Timothy syndrome ingatholakala ngaphambi noma ngemva kokuzalwa .

• Ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi umntwana esesesibelethweni , udokotela uzohlola ukuthi ukushaya kwenhliziyo kwengane kujwayelekile yini. Ukushaya kwenhliziyo okungajwayelekile okuhlobene ne-Timothy syndrome ukushaya kwenhliziyo okuhamba kancane esibelethweni (i-fetal bradycardia) .
• Ngemva kokuzalwa kwengane, kungenziwa ukuhlolwa kwe-`EKG` (i-Electrocardiogram) ukuhlola isigqi senhliziyo yengane.

Ngaphezu kwalokho, lezi zivivinyo zisiza ukuqinisekisa lesi simo:

• Ukuhlolwa kwezakhi zofuzo ukuthola izakhi zofuzo ezibangela izimpawu .
• Ezinye izivivinyo zezithombe (isib. i-MRI, i-CT scan, i-X-ray) .
• Ukuhlolwa kukadokotela wenhliziyo ukuze kuhlolwe impilo yenhliziyo .
• Ukuhlolwa kwesazi sezinzwa ukuhlola ukusebenza kwesimiso sezinzwa .
• Ukuhlolwa kwegazi ukuze kubonakale ukuthi kukhona yini izimpawu ezengeziwe .

Yiziphi izindlela zokwelapha lokhu?

Umgomo oyinhloko wokwelashwa kwe-Timothy syndrome ukulawula izimpawu ezingaba yingozi empilweni ezithinta inhliziyo :

• Imithi yokulawula izinga lokushaya kwenhliziyo (isib. `ama-beta-blockers`) .
• Ukusebenzisa i-cardioverter defibrillator (ICD) noma i-pacemaker efakiwe . Lokhu kusiza ekubuyiseleni isigqi senhliziyo uma kungazelelwe iba yinto engajwayelekile.

Ngaphezu kwalokho, kunezindlela zokwelapha ezinye izimpawu ezingathinta ingane:

• Ukunikeza ama-antibiotic ukwelapha izifo .
• Ukulungiswa kokuhlinzwa kokunamathela kwesikhumba phakathi kweminwe .
• Hlola njalo amazinga kashukela egazini .
• Ukudluliselwa ezinhlelweni zemfundo ekhethekile ukusiza ngezinkinga zokufunda zengane .

Ingabe kukhona izinkinga ekwelashweni?

Izingane ezine-Timothy syndrome zisengozini enkulu yokuhlaselwa yinhliziyo kanye nezinkinga zenhliziyo lapho zithola i-anesthesia . Lokhu kuyiqiniso ikakhulukazi ngemithi ye-anesthesia enweba isikhathi se-QT. Ngakho-ke, kubalulekile ukwazisa udokotela wakho ngalokhu ngaphambi kokuhlinzwa.

Ingabe i-Timothy Syndrome ingavinjelwa?

I-Timothy syndrome akuyona into engavinjelwa empeleni.Ngoba lokhu kubangelwa ukuguquka kwezakhi zofuzo. Ungakuthola njengefa, noma kungavela ngokuzumayo ngaphandle komlando womndeni.

Kodwa-ke, uma uhlela ukukhulelwa futhi ufuna ukwazi ngengozi yakho yokuba nengane enesifo sofuzo njenge-Timothy syndrome, ungakhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo kanye nokuhlolwa kofuzo .

Kwenzekani uma ingane yami ine-Timothy Syndrome?

Akukho ukwelashwa kwalesi simo, kodwa ukwelashwa kunganciphisa izimpawu ezisongela impilo yengane futhi kuthuthukise ikhwalithi yempilo yayo .

Isibikezelo sezingane ezinesifo senhliziyo esibi asisihle . Ngenxa yezimo ezifana ne-arrhythmias noma i-ventricular tachycardia, ingozi yokufa ebuntwaneni icishe ibe ngu-80% . Lokhu kuyadabukisa ukuzwa, kodwa kubalulekile ukwazi iqiniso.

Kodwa-ke, ezimweni ezingatheni kakhulu ze-Timothy syndrome, umphumela ungaba ngcono .

Unakekela kanjani ingane enalesi simo?

Ngenxa yokuthi izimpawu ze-Timothy syndrome zingasongela impilo, kubalulekile ukubona udokotela wengane yakho njalo ukuze aqaphe impilo yayo iyonke, ikakhulukazi impilo yenhliziyo yayo . Ukuhlolwa njalo kungasiza ekuboneni nasekuphatheni noma yiziphi izimpawu ezintsha kusenesikhathi.

Uma ingane yakho inezinkinga zokukhula noma yokufunda, izinhlelo zemfundo ekhethekile noma izindlela zokwelapha ezisekelayo zingasiza ingane yakho ngomsebenzi wesikole .

Kufanele ngiyise nini ingane yami kudokotela? Yini okufanele ngiyenze uma kunesimo esiphuthumayo?

Uma ingane yakho inezimpawu ze-Timothy syndrome, njengokutheleleka, ubunzima bokugcina izinga lokushisa lomzimba, noma ushukela wegazi ophansi njalo , qiniseka ukuthi ubona udokotela.

Izimpawu ezingathi sína kakhulu, njengokuquleka kanye nokushaya kwenhliziyo okungajwayelekile (ikakhulukazi uma ukushaya kwenhliziyo kushesha kakhulu noma kungajwayelekile) , kungaba yingozi empilweni futhi kudinga ukunakekelwa kwezokwelapha ngokushesha . Uma lokhu kwenzeka, iya egumbini lezimo eziphuthumayo (ER) noma ushayele u-911.

Yimiphi imibuzo okufanele uyibuze udokotela wengane yakho?

Kungumqondo omuhle ukubuza udokotela wengane yakho imibuzo efana nale:

• Ingabe ikhona imiphumela emibi emuthini owunikezile?
• Ingabe ingane yami idinga ukuhlinzwa?
• Ingabe ingane yami iphilile ngokwanele ukuba ihlinzwe?
• Ngingaziqapha kanjani izimpawu zengane yami?

Ukubhekana nesimo esingavamile sofuzo kungaba yinselele kubazali abasha nezingane zabo. Kubalulekile ukuqaphela impilo yengane yakho, ikakhulukazi ukuze ubone ukuthi ukwelashwa kulawula izimpawu futhi kwandisa isikhathi ingane yakho engasichitha nawe. Njengoba ucabanga ngokunakekelwa kwengane yakho, cabanga ngawe nomndeni wakho. Kubalulekile futhi ukukhuluma nomeluleki wezempilo yengqondo ofanelekayo ukuze unciphise ukucindezeleka nokukhathazeka, futhi ufunde ukuthi ungasiza kanjani ingane yakho.

Khumbula lezi zinto (Umyalezo Wokuya Ekhaya)

I-Timothy syndrome iyisifo esingavamile kakhulu, kodwa esibi kakhulu esibangelwa izakhi zofuzo.

• Hlala uqaphele, ngoba kunomthelela omkhulu enhliziyweni .
• Izimpawu ziyahlukahluka kuye ngengane .
• Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kungathuthukisa ikhwalithi yokuphila kwengane.
• Kubaluleke kakhulu ukulandela iseluleko sezokwelapha futhi ungaphuthelwa ukuhlolwa okuhleliwe .
• Awuwedwa kulolu hambo. Thola ukwesekwa kodokotela, abeluleki kanye nabathandekayo .

I - Timothy syndrome, i-Timothy syndrome, izifo zofuzo, izifo zenhliziyo, izifo zobuntwana, ukubambezeleka kokukhula, i-CACNA1C gene, izifo ezingavamile