Chii chinonzi Timothy Syndrome? Mwana wako ane migumisiro iyi here? Ngatikurukurei!

Uri kunetseka here nezvedambudziko remwoyo remwana wako, kana kuti kuchinja kwechitarisiko chake kana kukura kwake? Dzimwe nguva, chikonzero chikuru chingave chirwere chemajini chatisati tanzwa zvakawanda nezvacho. Chimwe chezvirwere zvisingawanzoitiki asi zvakakosha kuziva nezvacho iTimothy syndrome. Nhasi, tichataura nezvazvo zviri nyore, nenzira yaunogona kunzwisisa.

Chii chinonzi Timothy Syndrome?

Zvichitaurwa zviri nyore, chirwere cheTimothy chirwere chisingawanzoitiki chinowanikwa mumajini. Chinogona kukanganisa moyo wemwana wako, chitarisiko chake, tsinga, uye masoja emuviri . Zviratidzo zvinogona kusiyana, uye vamwe vana vanogona kuva nematambudziko emoyo anogona kukanganisa hupenyu hwavo.

Ndiani anowana izvi? Zvinogara nhaka sei?

Zvino ungave uchishamisika kuti, 'Ndiani anowana izvi?' Timothy syndrome chirwere chinokonzerwa nemajini, saka chero munhu anogona kuiwana. Zvinoitika seizvi:

• Kazhinji, mwana anofanira kugara nhaka yechirwere ichi kubva kumubereki mumwe chete, icho chinonzi nhaka inotonga yega yega.
• Dzimwe nguva, zvinoshamisa kuti mwana anogona kugara nhaka chirwere ichi kubva kumubereki asina zviratidzo. Izvi zvinodaro nekuti jini rakakanganiswa rinogona kunge riri mune mamwe masero emuviri wemubereki chete, kwete mumasero ese . Izvi zvinonzi chirwere che'mosaic'.
• Zvisinei, nekuda kwekuoma kwezviratidzo izvi, hazviwanzoitiki kuti munhu ane Timothy syndrome apfuure jini iri kuchizvarwa chinotevera.
• Kazhinji, chirwere ichi chinoitika nekuda kwekuchinja kwemajini matsva, pasina nhoroondo yemhuri . Kureva kuti, nekuda kwekuchinja kwemajini matsva.

Izvi zvakajairika zvakadii?

Tichifunga nezvekuwanda kwaro, chirwere cheTimothy chirwere chisingawanzoitiki . Vanhu vasingasviki zana chete ndivo vanozivikanwa kuti vane chirwere ichi pasi rose. Saka hazvinyanyi kutaurwa nezvacho.

Ndezvipi zviratidzo zveTimothy Syndrome?

Zviratidzo izvi zvinogona kusiyana kubva pamwana mumwe kuenda kune mumwe, uye kuoma kwezviratidzo kunogona kusiyana. Mwana wako anogona kunge aine zvimwe zviratidzo, asi angasave nezvimwe. Zviratidzo izvi zvinonyanya kukanganisa moyo, chitarisiko chemuviri, uye mamwe mabasa emuviri .

Zviratidzo zvinokanganisa mwoyo

Zviratidzo zvine chekuita nemoyo ndizvo zvinonyanya kukosha kuti uzvicherechedze, sezvo izvi zvichigona kuisa hupenyu panjodzi.

• Unogona kuona kurova kwemoyo nekukurumidza kana kusina kurongeka (kurova kwemoyo) paunoisa ruoko rwako pachipfuva chemwana wako.
• Kurasikirwa kamwe kamwe kwekuziva (syncope) .

Izvi zvinokonzerwa ne:

• Kumbomira kwenguva refu pakati pekurova kwemoyo. Vanachiremba vanoti izvi 'QT yakareba'.
• Chirwere chemwoyo chekuzvarwa nacho (chikanganiso chiripo pakuzvarwa kwemwana) chinogona kukanganisa kugona kwemoyo kupomba ropa.
• Kusarongeka kwemoyo (arrhythmia) .
• Makamuri epasi emwoyo (ventricles) anorova nekukurumidza (`ventricular tachycardia`) . Izvi zvine njodzi huru.

Yeuka kuti zviratidzo izvi zvine chekuita nemoyo zvinogona kuisa hupenyu panjodzi . Unofanira kungwarira zvikuru nezveizvi nekuti zvinogona kukonzera kumisa kwemwoyo kamwe kamwe (kumisa kwemoyo) kana kutofa kamwe kamwe.

Hunhu hune chekuita nechitarisiko chemuviri

Vana vane chirwere cheTimothy vane zvimwe zvinhu zvinoonekwa pakuzvarwa:

• Ganda riri pakati peminwe rakabatana ('cutaneous syndactyly') . Sezvakaita dhadha. Rinogona kuitika pamaoko nemakumbo ese.
• Kutambanuka kwebhiriji riri pakati pemhino .
• Nzeve dzakaiswa pasi pane zvakajairika .
• Kupwanywa kweshaya yepamusoro .
• Kutetepa kwemuromo wepamusoro .
• Kukwenya mazino nekukombama .
• Kushaya bvudzi, sekunge une mhanza pakuzvarwa .

Zviratidzo zvinokanganisa masisitimu emuviri

Dambudziko iri rinokanganisawo zvikamu zveuropi hwemwana zvinodzora mamwe masisitimu emuviri. Saka, unogona kuonawo zviratidzo zvakaita se:

• Kunonoka kukura uye matambudziko ekushanda kwepfungwa . Kutaura nekufamba zvinogona kunonoka zvichienzaniswa nevamwe vana.
• Kutapurirana kunowanzoitika . Nekuda kwekusasimba kwekudzivirira muviri, zvirwere zvinopararira zviri nyore.
• Kuderera kweshuga muropa (hypoglycemia) .
• Kudzikira kwekushisa kwemuviri (hypothermia) .
• Zvirwere zvepfari (izvi zvinogonawo kunzi pfari kana kuti pfari inonzwa chiedza) .
• Kuomerwa nekutaurirana uye kushamwaridzana nevamwe (autism spectrum disorder) . Vanganzwa sekunge vari munyika yavo vega.

Chii chinokonzera Timothy Syndrome?

Kana tikaongorora chikonzero cheizvi, chirwere cheTimothy chinokonzerwa nekuchinja kwemajini kana kuti kuchinja kwemajini mujini rinonzi `CACNA1C` . Jini iri rinotirayira kugadzira puroteni inotakura ma calcium ions kuenda kumasero emwoyo yedu (cardiomyocytes) uye kumasero europi hwedu (neurons).

Fungidzira, puroteni inogadzirwa nejini re'CACNA1C' yakaita semusuwo. Musuwo uyu unovhurika uye unovhara, zvichibvumira maatomu ecalcium kupinda nekubuda musero. Kana paine shanduko yemajini, musuwo uyu unoramba wakavhurika usingavharike zvakanaka . Ipapo calcium inoramba ichiyerera musero. Kana calcium iyi yakawandisa ikaungana, zviratidzo zveTimothy syndrome zvinoitika, uye mamwe masisitimu emuviri haashande zvakanaka.

Maatomu ecalcium aya akakosha zvikuru kumuviri wedu:

• Dzora mashandiro emagetsi emasero.
• Masero anotaurirana.
• Batsira tsandanyama kuti dzimire.
• Majini ekudzora ane chekuita nekukura kweuropi nemapfupa panguva yekukura kwemwana ari mudumbu.

Vanachiremba vanoongorora sei izvi?

Chirwere cheTimothy chinogona kuonekwa mwana asati aberekwa kana kuti mushure mekuzvarwa .

• Panguva yekuongororwa kweultrasound mwana achiri mudumbu , chiremba achaongorora kana kurova kwemoyo kwemwana kuri kwakajairika. Kurongeka kwemoyo kusina kujairika kunobatanidzwa neTimothy syndrome kurova kwemoyo kunonoka mumwana ari mudumbu (fetal bradycardia) .
• Mushure mekunge mwana azvarwa, bvunzo ye `EKG` (Electrocardiogram) inogona kuitwa kuti ione kuti moyo wemwana uri kufamba sei.

Pamusoro pezvo, bvunzo idzi dzinobatsirawo kusimbisa chirwere ichi:

• Kuongororwa kwemajini kuti uone jini rinokonzera zviratidzo .
• Mimwe miedzo yekufungidzira (semuenzaniso MRI, CT scan, X-ray) .
• Kuongororwa nachiremba wemwoyo kuti aone kana mwoyo wako wakagwinya .
• Kuongororwa nachiremba wepfungwa kuti aone kana sisitimu yetsinga inoshanda zvakanaka .
• Kuongororwa kweropa kuti uone kana paine zvimwe zviratidzo .

Ndezvipi zvinorapwa izvi?

Chinangwa chikuru chekurapa Timothy syndrome ndechekudzora zviratidzo zvinogona kutyisidzira hupenyu zvinokanganisa mwoyo :

• Mishonga yekudzora kurova kwemoyo (semuenzaniso `beta-blockers`) .
• Kushandisa muchina wekudzikisa tsinga dzemwoyo (ICD) kana pacemaker . Izvi zvinobatsira kudzoreredza kumhanya kwemoyo kana ukangoerekana wava kusagadzikana.

Pamusoro pezvo, kune mamwe marapirwo ezviratidzo zvinogona kukanganisa mwana:

• Kupa mishonga inorwisa utachiona kurapa hutachiona .
• Kugadziriswa kwekunamira kweganda pakati peminwe .
• Gara uchitarisa huwandu hweshuga muropa .
• Kutumirwa kuzvirongwa zvedzidzo yakakosha kuti zvibatsire nedambudziko remwana rekudzidza .

Pane matambudziko aripo here pakurapwa?

Vana vane Timothy syndrome vari panjodzi yakakura yekurwara nemoyo uye matambudziko emwoyo pavanopiwa anesthesia . Izvi zvinonyanya kuitika kune mishonga inopedza nguva yeQT. Saka, zvakakosha kuzivisa chiremba wako nezveizvi usati wavhiyiwa.

Timothy Syndrome inogona kudzivirirwa here?

Chirwere cheTimothy hachisi chinhu chinogona kudzivirirwa.Nekuti izvi zvinokonzerwa nekuchinja kwemajini. Unogona kuzvigara nhaka, kana kuti zvinogona kungoerekana zvaitika pasina nhoroondo yemhuri.

Zvisinei, kana uchironga kubata pamuviri uye uchida kuziva njodzi yako yekuva nemwana ane chirwere chemajini chakadai seTimothy syndrome, unogona kutaura nachiremba wako nezvemazano emajini uye kuongororwa kwemajini .

Chii chinoitika kana mwana wangu aine Timothy Syndrome?

Hapana mushonga wechirwere ichi, asi kurapwa kunogona kuderedza zviratidzo zvemwana zvinogona kuisa upenyu hwake pangozi uye kuvandudza hupenyu hwake .

Kufanotaura kwevana vane chirwere chemwoyo chakakomba hakuna kunaka . Nekuda kwezvirwere zvakaita se arrhythmias kana ventricular tachycardia, njodzi yekufa muhudiki i80% . Izvi zvinosuwisa kunzwa, asi zvakakosha kuziva chokwadi.

Zvisinei, muzviitiko zvisina kunyanya kuoma zveTimothy syndrome, mhedzisiro yacho inogona kunge iri nani .

Unotarisira sei mwana ane chirwere ichi?

Nekuti zviratidzo zveTimothy syndrome zvinogona kutyisidzira hupenyu hwemwana wako, zvakakosha kuona chiremba wemwana wako nguva nenguva kuti aongorore hutano hwake, kunyanya hutano hwemwoyo wake . Kuongororwa nguva dzose kunogona kubatsira kuona nekurapa chero zviratidzo zvitsva nekukurumidza.

Kana mwana wako aine kunonoka kukura kana matambudziko ekudzidza, mapurogiramu edzidzo yakakosha kana mishonga yekutsigira inogona kubatsira mwana wako nebasa rechikoro .

Ndinofanira kuenda nemwana wangu kuna chiremba riini? Chii chekuita kana paine emergency?

Kana mwana wako aine zviratidzo zveTimothy syndrome, zvakaita sehutachiona, kunetseka kuchengetedza tembiricha yemuviri, kana shuga shoma yeropa , iva nechokwadi chekuona chiremba.

Zviratidzo zvakakomba, zvakaita sepfari uye kurova kwemoyo kusina kurongeka (kunyanya kana kurova kwemoyo kuchikurumidza kana kusina kurongeka) , zvinogona kutyisidzira hupenyu uye zvinoda kurapwa nekukurumidza . Kana izvi zvikaitika, enda kuchipatara chekukurumidzira (ER) kana kufonera 911.

Mibvunzo ipi yaunofanira kubvunza chiremba wemwana wako?

Zvakanaka kubvunza chiremba wemwana wako mibvunzo yakaita seiyi:

• Pane mimwe migumisiro yakaipa pamushonga wawakanyora here?
• Mwana wangu anofanira kuvhiyiwa here?
• Mwana wangu ane hutano hwakakwana here kuti avhiyiwe?
• Ndingaongorora sei zviratidzo zvemwana wangu?

Kutarisana nechirwere chemajini chisingawanzoitiki kunogona kunetsa vabereki vatsva nevana vavo. Zvakakosha kuramba uchitarisa hutano hwemwana wako, kunyanya kuona kana kurapwa kuri kudzora zviratidzo uye kuwedzera nguva iyo mwana wako anogona kupedza newe. Paunenge uchifunga nezvekutarisirwa kwemwana wako, funga nezvako nemhuri yako. Zvakakoshawo kutaura nenyanzvi yekurapa kwepfungwa kuti uderedze kushushikana nekuzvidya mwoyo, uye kuti udzidze kuti ungabatsira sei mwana wako.

Rangarira zvinhu izvi (Mharidzo Yekuenda Nayo Kumba)

Timothy syndrome chirwere chisingawanzoitiki, asi chakakomba chemajini.

• Gara uchiziva nezvazvo, sezvo zvine simba guru pamoyo .
• Zviratidzo zvinosiyana kubva pamwana kusvika pamwana .
• Kuongororwa kwechirwere nekukurumidza uye kurapwa kwakakodzera kunogona kuvandudza hupenyu hwemwana.
• Zvakakosha kutevedzera mazano echiremba uye kusapotsa bvunzo dzakarongwa .
• Hausi wega parwendo urwu. Wana rubatsiro kubva kuna vanachiremba, vanopa mazano, nevadikanwi .

` Timothy syndrome, Timothy syndrome, zvirwere zvemajini, zvirwere zvemwoyo, zvirwere zvevana, kunonoka kukura, CACNA1C gene, zvirwere zvisingawanzoitiki