Ikhonjiswe ngo-2004
Ngo-1989, ingane yafika ehhovisi likaDkt. Katherine W. Timothy we-University of Utah. UDkt. Timothy wathola ukuthi ingane yayinokuphazamiseka kwengqondo yenhliziyo kanye neminwe eminwe nezinyosi. Le ngane yabizwa ngokuthi yiThimothy syndrome, ebizwa ngokuthi udumo lukaDkt. Timothy owaziwa njengososayensi ophenya ngezimbangela zezinhliziyo ezingavamile.
Ngonyaka we-2004, iqembu labaphesheya labacwaningi bezwe lonke lathinta ukuguquguquka kwezakhi zofuzo olubhekene noThimothew syndrome esakhiweni okuthiwa i-CACNA1C, futhi waqaphela ngokucacile le syndrome ezincwadini zezokwelapha. Ukuguqulwa okwenza ukuba i-syndrome ivele ngokuzenzakalelayo futhi ayizuze ifa.
Ayaziwa ukuthi zingaki izingane ezithinteka yiThimothy syndrome. Abacwaningi babone izingane ezingu-17, futhi bakholelwa ukuthi ezinye izingane ezine-syndrome zizohlolwa ukuthi umphakathi wezokwelapha ufunda ngalesi sifo.
Izimpawu
Izingane ezineThimothy syndrome zinenkinga ngokugeleza kwe-calcium emangqamuzaneni omzimba. I-calcium ingenye ye-molecule ebaluleke kakhulu emzimbeni, futhi ukuphazamisa ukugeleza kwayo kungabangela izimpawu eziningi. Lokhu kungafaka:
- Kungenzeka ukuphazamiseka kwenhliziyo yesifo senhliziyo
- Izinkinga zezinhliziyo
- Iminwe kanye nezinzwani ezisewebhu (syndactyly)
- Isivikelo somzimba sokuzivikela
- Izinkinga zokuqonda
- I-Autism
- Ushukela ophansi wegazi (hypoglycemia)
Ukuxilongwa
Noma yimuphi umntwana ozelwe ngaminwe noma izinzwani ezisewebhu webhekhi uhlolwe ukuze abone ukuthi unesifo somzimba yini . I-electrocardiogram (ECG) izothola noma yiziphi izimo zenhliziyo ezingavamile. I-echocardiogram (i-ultrasound yenhliziyo) izobona noma yikuphi ukukhubazeka kwenhliziyo. I-Autism yisifo esiyinkimbinkimbi futhi kungase kube nzima ukubona.
Ukuhlanganiswa kweminwe yezinyosi kanye nezinzwane ezingavamile kanye nesigqi sezinhliziyo ezingavamile kuyophakamisa ukuxilongwa kweThimothy syndrome.
Ukwelapha
Izindaba ezinhle ukuthi ukugeleza okungavamile kwe-calcium emzimbeni kungaphathwa ngemithi yokuvimbela umzila we-calcium njengeCalan (verapamil) noma i-Procardia (i-nifedipine). Abacwaningi baphatha izingane ngeThimotherapy syndrome ngalolu hlobo lwemithi, benethemba lokuthi izidakamizwa zizonciphisa izilinganiso zenhliziyo ezingavamile futhi zithuthukise ukusebenza kwengqondo.
Ucwaningo luyaqhubeka
Ithimba labacwaningi liqhubeka nomsebenzi wabo, lihlola indlela imithi yokuvimbela ngayo i-calcium ethinta abantu abaneThimothy syndrome. Bazoqhubeka nokuhlola izakhi zofuzo ezibangela izimo zenhliziyo ezingavamile, nokuthi ukugeleza okungavamile emzimbeni kungahle kuhlobene kanjani ne-autism.
Imithombo:
> "Isikhathi eside sokuzalwa kwengane ye-Genetic Syndrome ikhonjisiwe." Ukukhishwa kwezindaba. 30 Septemba 2004. Isibhedlela sezingane eBoston.
> "UThimothewu Syndrome." Inkomba yezifo ezinzima. 04 Apreli 2007. Inhlangano Kazwelonke Yezinkinga Ezinzima.