Anthu omwe ali ndi Cat Eye Syndrome Awoneni Kwambiri Kwambiri
Cat eye syndrome (CES, yotchedwa Schmid-Fraccaro syndrome), ndi matenda omwe amachititsa kuti chromosomal ikhale yachilendo ndipo imatchedwa dzina la maso ngati khungu. CES ndi zotsatira za chibadwa cha chibadwa cha chromosome 22, chomwe chimapangitsa chidutswa china cha chromosome.
Chikoka cha Cat Eye Syndrome
Matenda a maso a khungu amakhudza amuna ndi akazi ndipo akuyembekezeka kuti amapezeka 1 pa 50,000 mpaka 1 mwa anthu 150,000.
Ngati muli ndi CES, ndiye kuti mumakhala nokha m'banja mwanu kuti mukhale ndi vutoli chifukwa ndilosazolowereka kusiyana ndi jini.
Zizindikiro za Cat Eye Eye Syndrome
Ngati inu kapena mwana wanu muli ndi CES, mukhoza kukhala ndi zizindikiro zosiyanasiyana. Pafupifupi 80 peresenti mpaka 99 peresenti ya anthu omwe ali ndi matenda a maso a cat ali ndi zizindikiro zitatu zotsatirazi:
- Kukula kwa khungu (ma tags) a makutu akunja
- Mphuno mu khungu (maenje) a makutu akunja
- Kupanda kapena kusokoneza anus (anal atresia)
Zina, zofala, zizindikiro za matenda a Schmid-Fraccaro zimaphatikizapo:
- Kuchokera kwa minofu ya mbali imodzi yamitundu yonse (iris coloboma)
- Congenital mtima zopweteka
- Zovuta zovuta
- Mitsempha yotsika pansi pakati pa maso a m'mwamba ndi apansi
- Zopweteka za kapangidwe ka mkodzo kapena impso
- Mfupi yochepa
- Pulogalamu yamakono
- Maso atsopano
- Kulemala kwaumwini
Pali zina zolakwika zobadwa zobadwa, zomwe zatsimikiziridwa ngati mbali ya chikhalidwe, nayenso.
Zifukwa za Cat Khungu Syndrome
Malinga ndi bungwe la National Organization for Rare Disorders (NORD), chifukwa chenicheni cha matenda a maso a khungu sichimveka bwino. Nthaŵi zina, vuto losaoneka bwino la chromosomal likuwoneka kuti limakhalapo mwachisawawa chifukwa cha zolakwika momwe maselo obereka a kholo amagawanitsira. Pazochitikazi, kholo lanu ali ndi chromosome yachibadwa.
Nthawi zina, zikuwoneka kuti zimachokera kumalo osamalidwa bwino mwa makolo anu.
Kusunthika kumachitika pamene magawo ena a chromosome amachoka ndipo akukonzanso, zomwe zimachititsa kusinthika kwa majini ndi ma kromosomu osinthika. Ngati kukonzanso kachilombo ka chromosomal kuli koyenera-kutanthawuza kuti kumaphatikizapo ndi majini osinthika koma osamalitsa-kawirikawiri sizowopsa kwa wonyamulira. Komabe, ngati muli ndi CES, kukonzanso kwanu kwa chromosomal kungapangitse chiopsezo chanu chokhazikitsa chitukuko chanu chosasangalatsa kwa ana anu.
Nthaŵi zina, kholo la mwana yemwe wakhudzidwa akhoza kukhala ndi chromosome ya chizindikiro m'maselo ena a thupi ndipo, nthawi zina, amasonyeza kuti mwina ndi ofatsa, zomwe zimakhala ndi matendawa. Umboni umasonyeza kuti vutoli limakhala losazolowereka kudzera m'mabanja ambiri; Komabe, monga taonera pamwambapa, kufotokozera kwa zinthu zofanana kungakhale kosiyana. Chotsatira chake, ndi okhawo omwe ali ndi zinthu zambiri kapena zovuta zomwe angazindikire.
Kufufuza kwa Chromosomal ndi uphungu wokhudzana ndi majini angaperekedwe kwa makolo a mwana yemwe athandizidwa kuti atsimikizire kapena kusalepheretsa kukhalapo kwa zinthu zina zosafunika zomwe zimakhudzana ndi chromosome 22 ndi kuyesa chiopsezo chobwereza.
Kuzindikira ndi Kuteteza Cat Eye Syndrome
Ngati muli ndi matenda a maso a cat, zikutanthauza kuti munabadwa nawo. Kawirikawiri, dokotala wanu angakuzindikireni inu kapena mwana wanu pogwiritsa ntchito zizindikiro zomwe muli nazo. Kuyeza kwa majeremusi, monga karyotype, kungatsimikizire kukhalapo kwa chibadwa chakuthupi mwa chromosome 22-katatu kapena katatu kamodzi ka chromosome-yomwe ikugwirizana ndi CES.
Momwe chithandizo cha CES chiliri ndi zizindikiro zomwe inu kapena mwana wanu muli nazo. Ana ena amafunika kuchitidwa opaleshoni kukonzanso zolepheretsa kubereka mu anus kapena mtima wawo. Anthu ambiri omwe ali ndi matenda a maso a cat amakhala ndi nthawi yokhala ndi moyo nthawi zonse pokhapokha ngati ali ndi mavuto oopsa monga moyo wodwala mtima.
> Zotsatira:
> Zachilendo Zachibadwa ndi Zachilombo Zambiri. Cat Eye Syndrome. Chitukuko cha National Cholinga Chosandulika Sayansi Yamasulira. Dipatimenti ya Zaumoyo ya Ukhondo ku United States. National Institutes of Health. Kusinthidwa pa April 13, 2015.
> Bungwe la National for Disturbed Disorders (NORD). Cat Eye Syndrome. Lofalitsidwa 2017.