Uchongwa ngo-2004
Ngomnyaka we-1989, umntwana weza eofisi kaDkt. Katherine W. Timothy weYunivesithi yase-Utah. UDkt. Timothy uthi umntwana wayenentliziyo yokuphazamiseka kwengqondo kunye neminwe yakhe kunye neenzwane. Lo mntwana wayenokwaziwa ngokuba nguTimothy syndrome, ogama lakhe lihlonishwa nguDkt. Timothy owaziwayo njengososayensi ophanda izizathu zentliziyo engavumelekanga.
Ngo-2004, iqela labaphandi bamazwe ngamazwe lathintela ukuguquka kofuzo oluxanduva lweTimothy kwi-gene ebizwa ngokuthi yiCACNA1C, kwaye yachonga ngokucacileyo i-syndrome kwiincwadi zonyango. Utshintsho olwenza ukuba i-syndrome ivele ngokukhawuleza kwaye ayizuze ilifa.
Ayaziwa ukuba bangaphi abantwana abachaphazelekayo yiTimothy syndrome. Abaphandi bachaza abantwana abangama-17, kwaye bakholelwa ukuba abanye abantwana abane-syndrome baya kufunyaniswa ukuba abantu bezonyango bafunda malunga neengxaki.
Iimpawu
Abantwana abanesifo sikaTimoti banenkinga ngokuhamba kwekhalsiyam kwiiseli zomzimba. I-calcium yenye yeeleksi ezibalulekileyo emzimbeni, kwaye ukuphazamisa ukuhamba kwayo kungabangela ezininzi iimpawu. Ezi ziquka:
- Kungenzeka kube nokuphazamiseka kwentliziyo yesifo
- Iintsilelo zeentliziyo
- Iminwe yewebhu kunye neenzwane (ngokukhawuleza)
- Isistim somzimba esilula
- Ubunzima beCognitive
- Autism
- Isetyhu ephantsi yegazi (i-hypoglycemia)
Ukuxilongwa
Naliphi na umntwana ozalwe ngeminwe okanye iminwe eqhelekileyo ehlolwe ukuba abone ukuba unesifo somzimba . I-electrocardiogram (ECG) iya kuhlola nayiphi na iincinci zentliziyo ezingavamile. I-echocardiogram (i-ultrasound yentliziyo) iya kubona nayiphi na impazamo yeentliziyo. I-Autism yinkinga eyinkimbinkimbi kwaye kunokuba nzima ukuyijonga.
Ukudibaniswa kweminwe ebhaliweyo kunye neenzwane kunye nesingqumbo esingaqhelekanga intliziyo izakuphakamisa ukuxilongwa kwesifo sikaTimoti.
Unyango
Iindaba ezilungileyo kukuba ukuhamba okungaqhelekanga kwe-calcium emzimbeni kunokuphathwa ngeempawu zokunqanda i-calcium-calan (verapamil) okanye iParcardia (nifedipine). Abaphandi baphatha abantwana ngoTimothy ngesifo sengqondo, benethemba lokuba iziyobisi ziya kunciphisa izithintelo zentliziyo engavumelekanga kwaye ziphucule umsebenzi wokuqonda.
Uphando luqhubeka
Iqela labaphandi liqhubeka nomsebenzi wabo, liphonononga indlela imithi ye-calcium yokuthintela ngayo imichiza ichaphazela abantu abane-syndrome kaTimoti. Baya kuqhubeka bekhangela iigleji ezibangele iinqununu zentliziyo engavumelekanga, kunye nendlela ukuhamba kwe-calcium engaqhelekanga emzimbeni inokuthi ihambelane ne-autism.
Imithombo:
> "Kuye kwachongwa i-Childhood Genetic Syndrome." Ukukhutshwa kweendaba. 30 Septemba 2004. Isibhedlele sabantwana iBoston.
> "Timothy Syndrome." Index of the Rare Diseases. 04 Matshi 2007. Umbutho weSizwe weengxaki eziqhelekileyo.