Kudziwika mu 2004
Mu 1989, mwana anabwera ku ofesi ya Dr. Catherine W. Timothy wa yunivesite ya Utah. Dr. Timothy adanena kuti mwanayo anali ndi vuto la mtima wamanthu ndi zala zala. Mwana uyu anali ndi matenda omwe anadziwika kuti Timothy syndrome, wotchulidwa kulemekeza ntchito ya Dr. Timothy yodziwika bwino monga asayansi akufufuza zomwe zimayambitsa zovuta za mtima.
M'chaka cha 2004, gulu la akatswiri padziko lonse lapansi linatanthauzira kusintha kwa chibadwa cha matenda a Timothy mu jini lotchedwa CACNA1C, ndipo anazindikiritsa matendawa m'mabuku a zamankhwala. Kusintha kwa thupi kumene kumayambitsa matendawa kumachitika pokhapokha popanda kulandira.
Sikudziwika kuti ndi ana angati omwe akudwala matenda a Timothy. Ofufuzawa anapeza ana 17, ndipo amakhulupirira kuti ana ena ali ndi matendawa adzapezeka ngati adokotala akuphunzira za matendawa.
Zizindikiro
Ana omwe ali ndi matenda a Timothy ali ndi vuto la kutuluka kwa kashiamu m'maselo a thupi. Calcium ndi imodzi mwa mamolekyu ofunika kwambiri m'thupi, ndipo kusokoneza kayendedwe kake kungayambitse zizindikiro zambiri. Izi ziphatikizapo:
- Kusokonezeka kwa mtima wamaganizo
- Ziphuphu za mtima
- Zina zolembedwa ndi zala zachitsulo (syndactyly)
- Chitetezo cha m'thupi chofooka
- Mavuto ozindikira
- Autism
- Shuga ya m'magazi (hypoglycemia)
Kudziwa
Mwana aliyense wobadwa ndi zala kapena zala zachitsulo amayang'aniridwa kuti awone ngati ali ndi matenda a chibadwa . Electrocardiogram (ECG) idzazindikira mtundu uliwonse wa mtima wamantha. Kapepala kakang'ono (ultrasound of heart) kamene kamadzazindikira vuto lililonse la mtima. Autism ndi matenda ovuta ndipo zingakhale zovuta kuzizindikira.
Kuphatikizana zala zala ndi zala zazing'ono komanso thupi losazolowereka lidzasonyeza kuti akudwala matenda a Timoteo.
Chithandizo
Nkhani yabwino ndi yakuti kutuluka kwa kashiamu kosaneneka m'thupi kumatha kupatsidwa mankhwala a calcium omwe amaletsa mankhwala monga Calan (verapamil) kapena Procardia (nifedipine). Ofufuzawa akuwathandiza ana ndi matenda a Timoteo, pogwiritsa ntchito mankhwalawa, poganiza kuti mankhwalawa amachepetsa mtima wosasinthasintha komanso amachititsa kuti azidziŵa bwino.
Kafukufuku Akupitirirabe
Gulu la ofufuza likupitiriza ntchito yawo, pofufuza momwe mankhwala a calcium amapezera mankhwala omwe amakhudza anthu omwe ali ndi matenda a Timoteo. Iwo adzapitirizabe kufufuza zamoyo zomwe zimayambitsa zovuta za mtima, komanso momwe calcium yowonongeka mu thupi ikhoza kugwirizana ndi autism.
Zotsatira:
> "Nthaŵi zambiri Ana Ambiri a Genetic Syndrome Amadziwika." Nkhani Zotulutsidwa. 30 September 2004. Chipatala cha Ana ku Boston.
> "Timothy Syndrome." Mndandanda wa Zachilombo Zambiri. 04 Apr 2007. bungwe la National Disorder.