Matenda Omwe Ali Nawo Okha Amene Ali Pa Makamu 100 Odziwika
Matenda a Seckel ndi mtundu wobadwa nawo wobadwa kwambiri , kutanthauza kuti khanda limayambira kwambiri ndipo silingakule bwino pambuyo pa kubadwa. Ngakhale kuti anthu omwe ali ndi matenda a Seckel adzakhala ofanana kwambiri, adzakhala ndi kukula kwake kwa mutu. Kutaya maganizo kumakhalanso kofala.
Ngakhale pali mavuto osiyanasiyana omwe munthu wina ali ndi matenda a Seckel, ambiri akhala akukhala bwino zaka zoposa 50.
Zifukwa za Seckel Syndrome
Matenda a Seckel ndi matenda obadwa nawo okhudzana ndi kusintha kwa majini pa imodzi mwa ma chromosomes atatu. Iwo amawoneka kuti ndi osowa kwambiri ndi milandu yoposa 100 yolembedwa kuyambira 1960. Ana ambiri omwe amapezeka kuti ali ndi matenda a Seckel anabadwira kwa makolo omwe ali ofanana kwambiri (consanguineous), monga achibale awo kapena abale awo.
Seckel syndrome ndi matenda opatsirana kwambiri, omwe amatanthauza kuti zimachitika kokha pamene mwana adzalandira jini losalongosoka la kholo lililonse. Ngati mwanayo atenga jini imodzi yeniyeni ndi jini losazolowereka, mwanayo adzakhala chonyamulira cha matenda koma nthawi zambiri samasonyeza zizindikiro.
Ngati makolo onse ali ndi kusintha komweku kwa chromosomal kwa seva ya Seckel, chiopsezo chawo chokhala ndi mwana ndi Seckel ndi 25 peresenti, pomwe chiopsezo chokhala ndi chotengera ndi 50 peresenti.
Zizindikiro za Seckel Syndrome
Matenda a Seckel amadziwika kuti amakula msanga komanso amalephera kubereka.
Pambuyo pa kubadwa, mwanayo adzalandira kukula msanga komanso kusakanikirana kwa mafupa kumapangitsa msinkhu wochepa koma wofanana (mosiyana ndi zochepa chabe, kapena achondroplasia). Anthu omwe ali ndi matenda a Seckel ali ndi zizindikiro zosiyana ndi zakuthupi, kuphatikizapo:
- Kukula kwakukulu ndi kulemera kwa kubadwa (pafupifupi mapaundi 3.3)
- Mwapang'ono kwambiri, chiwerengero chofanana
- Uchimake wochepa kwambiri (microcephaly)
- Chiwonetsero chokamwa cha mphuno
- Chithunzi chophweka
- Makutu osayenerera
- Nsagwada yaing'ono kwambiri (micrognathia)
- Kutaya maganizo, kawirikawiri kwambiri ndi IQ zosakwana 50
Zizindikiro zina zimaphatikizapo maso akuluakulu, mapiko apamwamba, mazinya, ndi zina zotayika. Matenda a magazi monga magazi a magazi (maselo ofiira a m'magazi), pancytopenia (osati maselo okwanira a m'magazi), kapena mitsempha ya m'mitsempha ya m'magazi (mtundu wa kansa ya magazi) amawonekeranso.
Nthawi zina, mayesero mwa amuna amalephera kulowa pansi, pomwe amayi akhoza kukhala ndi clitoris yodabwitsa. Kuwonjezera apo, anthu omwe ali ndi matenda a Seckel akhoza kukhala ndi tsitsi lopitirira kwambiri komanso lokha, m'mwamba mwazanja zawo (zotchedwa simian crease).
Kuzindikira za Seckel Syndrome
Kuzindikira za matenda a Seckel kumadalira kokha zizindikiro za thupi. X-ray ndi zida zina zogwiritsira ntchito ( MRI , CT scan ) zingakhale zofunikira kuti zisiyanitse ndi zina zofanana. Pakalipano palibe labata kapena mayeso a maumunthu omwe amadziwika ndi matenda a Seckel. Nthaŵi zina, vuto lodziŵika bwino silingapangidwe mpaka mwana atakula ndipo zizindikiro zimayambira.
Kuchiza ndi Kulamulira kwa Seckel Syndrome
Chithandizo cha matenda a Seckel chikuwongolera vuto lililonse lachipatala lomwe lingabwere, makamaka matenda a magazi ndi ziphuphu zomangika. Anthu omwe amatsutsidwa mwachangu ndi mabanja awo ayenera kupatsidwa thandizo lovomerezeka ndi uphungu.
Zotsatira:
> Al-Dosari, M .; Shaheen, R .; Colak, D. et al. "Kusintha kwatsopano kwa CENPJ kumayambitsa matenda a Seckel." J Med Genet . 2010; 47: 411-4.
> Hennekam, R .; Allanson, J ;; ndi Krantz, I. (2011) "Zokwanira zochepa kwambiri za syndromes." Syndromes a Gorlin a Mutu ndi Mkhosi . Oxford, England: Oxford University Press: 440-80.