Kuzivikanwa muna 2004
Muna 1989, mwana akauya kuhofisi yaDkt. Katherine W. Timothy weYunivhesiti yeUtah. Dr. Timothy akati mwana wacho aiva nemoyo wekushungurudzika kwepfungwa uye neminwe nemagunwe. Uyu mwana aiva nezvakazozivikanwa saTimothy syndrome, ainzi mukuremekedza basa raRobert Timothy rakakurumbira semusayendisiti achitsvaga zvikonzero zvekusagadzikana kwemoyo.
Muna 2004, boka rezvemarudzi rose revanotsvakurudza rakatsinhanisa kuchinja kwemazwi ane simba reTimothy syndrome mune rimwe gira rainzi CACNA1C, uye rakaratidza zvakajeka chirwere chiri mumabhuku ekurapa. Kuchinja kunokonzera kuti chirwere chinowanzoitika uye hachina nhaka.
Hazvizivikanwi kuti vangani vana vanobatwa neTimothy syndrome. Vatsvakurudzi vakatsanangura vana 17, uye vanotenda kuti vamwe vana vane chirwere chichaonekwa kuti sangano rezvechiremba rinodzidza nezvechirwere.
Zviratidzo
Vana vane chirwere cheTimothy vane dambudziko nekuyerera kwe calcium mumasero emuviri. Calcium ndiyo imwe yemakemikari anokosha mumutumbi, uye kunokanganisa kubuda kwayo kunogona kukonzera zviratidzo zvakasiyana-siyana. Izvi zvinogona kusanganisira:
- Zvichida kuuraya mwoyo rhythm kuvhiringidzika
- Heart defects
- Zvimwe zvakagadzirwa nemimwe nezvigunwe (syndactyly)
- Mune simba rekudzivirira muviri
- Kuziva njodzi
- Autism
- Iko shuga shoma shoma (hypoglycemia)
Kuziva
Mwana upi noupi anoberekwa neminwe kana zvigunwe zvakagadzirwa neminwe kana kuti zvigunwe zvinoongororwa kuti aone kana ane chirwere chema genetic . An electrocardiogram (ECG) achaona chero maitiro asina kunaka emwoyo. Ikopikodhigiri (ultrasound yemwoyo) ichaona chero upi zvake hwepfungwa. Autism inetso yakaoma uye inogona kuva yakaoma kuona.
Kubatanidzwa kweminwe nemagunwe nemagunwe uye kusagadzikana kwemuviri wepfungwa kucharatidza kuongororwa kwaTimothy syndrome.
Kurapa
Nhau dzakanaka ndeyokuti kubuda kusina kuchena kwe calcium mumuviri kunogona kurapwa nemishonga inorambidza calcium-channel yakadai seCalan (verapamil) kana Procardia (nifedipine). Vatsvakurudzi vari kubata vana neTimothy syndrome vane rudzi urwu rwemishonga, vachitarisira kuti madhiragi acho achaderedza kusagadzikana kwepfungwa dzomwoyo uye kuvandudza kugadzirisa basa.
Kutsvakurudza kunopfuurira
Dare revanotsvakurudza riri kuramba richiita basa ravo, vachiongorora kuti maricum-nzira yekuvhara mishonga inobata sei vanhu vane Timoti syndrome. Vachange vachienderera mberi kutsvaga mazamu anokonzera kusagadzikana kwemitemo yemwoyo, uye kuti kushamisa kwema calcium inoyerera mumuviri kunogona kuwirirana ne autism.
Sources:
> "Kazhinji Childhood Genetic Syndrome Inozivikanwa." News Releases. 30 Sept. 2004. Children's Hospital Boston.
> "Timoti Syndrome." Index of Rare Diseases. 04 Apr 2007. National Organisation for Rare Disorders.