Abantu abanesifo se-Cat Eye Syndrome Babuke Ngokuphawulekayo
I-cat eye syndrome (i-CES, eyaziwa nangokuthi i-Schmid-Fraccaro syndrome), yisimo esibangelwa ukungavamile kwe-chromosomal futhi sabizwa ngokuthi i-eye-like eye ijabane ibangela. I-CES yimbangela yesici sezakhi zofuzo ku-chromosome 22, okubangela i-fragment eyengeziwe ye-chromosome.
Ukwenzeka kwe-Cat Eye Syndrome
I-cat eye syndrome ithinta kokubili abesilisa nabesifazane futhi kulinganiselwa ukuthi kwenzeka ku-1 ku-50,000 kuya ku-1 kubantu abayi-150,000.
Uma unayo i-CES, kungenzeka ukuthi uyedwa kuphela emndenini wakho ukuba ube nesimo kusukela kungavamile kwe-chromosomal ngokuphambene nesakhi.
Izimpawu ze-Cat Eye Syndrome
Uma wena noma umntanakho unesi-CES, ungase uthole izimpawu eziningi ezahlukene. Abantu abangamaphesenti angama-80 kuya kwangu-99 abantu abane cat eye syndrome babe nalezi zimpawu ezintathu ezifanayo:
- Ukukhula okuncane kwesikhumba (amathegi) wezindlebe zangaphandle
- Ukuthuthwa kwesikhumba (imigodi) yezindlebe zangaphandle
- Ukungabikho noma ukuvinjelwa kwe-anus (i-anal atresia)
Okunye, okuvame kakhulu, izimpawu ze-Schmid-Fraccaro syndrome zihlanganisa:
- Ukungabikho kwezicubu ezivela engxenyeni enemibala yombuso owodwa noma womabili (iris coloboma)
- Izinkinga zenhliziyo ezibangelwa yi-Congenital
- Ukungahleleki kwebhu
- Ukuvuleka phansi kwezingcingo phakathi kwamajwabu angenhla naphansi
- Amaphutha we-urinary tract noma izinso
- Isiqu esifushane
- I-flaft palate
- Amehlo ahleliwe
- Ukukhubazeka kwengqondo
Kukhona ezinye iziphambeko zokuzalwa ezingavamile, eziye zaphawulwa njengengxenye yesimo, futhi.
Izimbangela ze-Cat Eye Syndrome
Ngokusho kweNational Organisation for Rare Disorders (NORD), imbangela eqondile ye-cat eye syndrome ayitholakali ngokuphelele. Kwezinye izimo, ukungafani kwe-chromosomal kubonakala kuphakama ngokungahleliwe ngenxa yephutha endleleni amangqamuzana omzali wokuzala ahlukanisa ngayo. Kulezi zimo, umzali wakho unama-chromosomes avamile.
Kwezinye izimo, kubonakala sengathi kubangelwa ukudluliselwa okulinganisela komunye wabazali bakho.
Izinguquko zenzeke uma izingxenye zama-chromosomes athile ziphulwa futhi zihlelwa kabusha, okuholela ekushintsheni kwezinto eziphathelene nama-gene kanye nesethi eguquliwe yama-chromosomes. Uma i-rearrangement ye-chromosomal ilinganisiwe-okusho ukuthi iqukethe isethi yezakhi zofuzo ezishintshileyo kodwa ezilinganiselayo-ngokuvamile akulimazi kumthwali wesithwali. Kodwa-ke, uma une-CES, ukulungiswa kabusha kwe-chromosomal kungandisa ingozi yokudlulisa ukuthuthukiswa kwakho okungavamile kwe-chromosomal kubantwana bakho.
Kwezinye izimo, umzali wengane ethintekile angase abe ne-chromosome yomaka kwamanye amangqamuzana omzimba futhi, kwezinye izimo, aveze ngokuqinisekile, okungenzeka kube mncane, izici zengxabano. Ubufakazi bubonisa ukuthi lesi simo esingavamile singasakazwa ngezizukulwane eziningana eminye imindeni; Nokho, njengoba kuphawuliwe ngenhla, ukubonakaliswa kwezici ezihambisanayo kungase kube okuguquguqukayo. Ngenxa yalokho, kuphela labo abanezici eziningi noma ezinzima abangabonakala.
Ukuhlaziywa kwe-Chromosomal kanye nokwelulekwa kwezakhi zofuzo kunganconywa kubazali bengane ethintekile ukusiza noma ukufaka eceleni ukutholakala kwezinto ezingajwayelekile ezihilela i-chromosome 22 nokuhlola ingozi yokuphindaphinda.
Ukuqaphela nokuphatha i-Cat Eye Syndrome
Uma une cat eye syndrome, lokho kusho ukuthi wena wazalwa nayo. Ngokujwayelekile, udokotela wakho uzokuthola ukuthi wena noma ingane yakho isekelwe ezimpawu onayo. Ukuhlolwa kofuzo, njenge-karyotype, kungaqinisekisa ukuthi kukhona isici esithile se-genetic in-chromosome 22-kathathu noma kathathu kwezinxenye ze-chromosome-ezihlobene ne-CES.
Indlela i-CES ephathwa ngayo isekelwe ezimpawu wena noma ingane yakho enayo. Ezinye izingane zingase zidinge ukuhlinzwa ukuze zilungise ukukhubazeka kokuzalwa ku-anus noma enhliziyweni yazo. Iningi labantu abane-cat eye syndrome linesikhathi sokuphila esilinganiselwe ngaphandle kokuba sinezinkinga zomzimba ezisongela ukuphila okunjengokukhubazeka kwenhliziyo enzima.
> Imithombo:
> Isikhungo Sokwaziswa Ngezifo Zamafuzo. Cat Eye Syndrome. Isikhungo Sikazwelonke Sokuthuthukisa Amasu Okuhumusha. UMnyango WezeMpilo waseMelika kanye Nezinsizakalo Zabantu. Izikhungo zezempilo zikazwelonke. Kubuyekezwe ngo-Apreli 13, 2015.
> Inhlangano Kazwelonke Yezinkinga Ezinzima (i-NORD). Cat Eye Syndrome. Ishicilelwe ngo-2017.