Ingxaki yesifo semfuyo idala izifo ezingokwenyama kunye nengqondo
I-Wolf-Hirschhorn syndrome yintlupheko yesifo esingaba neengxaki zokuzalwa kunye neengxaki zophuhliso. Ivelisa kumpawu zobuso ezihlukileyo, ubude obufutshane, ukulibala kwengqondo, kunye nokungaqhelekanga kweenkqubo ezininzi zegungu. Yimeko engavumelekanga kwaye kuqikelelwa ukuba yenzeke kwenye kwii-50,000 zokuzalwa.
I-Wolf-Hirschhorn syndrome ivela kwiiphene ezithile kwi-gene eyaziwa njenge-chromosome 4p.
Kwiimeko ezininzi, oku akusiyo i-genetic disorder disorder kodwa kunokuba utshintsho olwenzeka ngokukhawuleza. Enyanisweni, kuma-87 ekhulwini abantu baxhatshazwa yi-Wolf-Hirschhorn syndrome, akukho nzala yentsapho yentleba.
Nangona i-Wolf-Hirschhorn syndrome inokuvela kubantu bazo naziphi na iintlanga okanye ubuhlanga, amabhinqa aphindwe kabini njengabesilisa.
Iimpawu ze-Wolf-Hirschhorn Syndrome
I-Wolf-Hirschhorn syndrome ibangela ukungaphumeleli kwiindawo ezininzi zomzimba ngenxa yokuba iimpazamo zofuzo zenzeka ngexesha lokukhula komntwana.
Esinye sezibonakaliso eziphawulekayo yizinto ezichazwe ngokuthi "i-helmet yamaqhawe e-Greek". Ezi zinto ziquka iphambili ebonakalayo, amehlo asezantsi, kunye neempumlo ezibanzi. Ezinye iimpawu zingabandakanya:
- Ukuphazamiseka kwengqondo
- Intloko encinci
- I-Cleft palate
- Isifutshane esifutshane
- Ukulungiswa kwezandla, iinyawo, isifuba kunye nomgudu
- I-tone ye-muscle ephantsi kunye nophuhliso olusweleyo lwemisipha
- I-Creases kwiintendelezo ezibizwa ngokuba yi "simian creases"
- Ukungaphuhliswanga okanye ukuhlukunyezwa kwezitho zangasese kunye nomzila wamanzi
- Ukuqubuka (okwenzeka kuma-50 ekhulwini kubantu abachaphazelekayo)
- Iimpazamo ezinzulu zentliziyo, ingakumbi i-paral defect defect (eyaziwa ngokuba yi "mgodi entliziyweni"), isiphene se-septal defect (i-malformation of connection between the chambers of the heart), kunye ne-ulmonic stenosis (ukukhupha intliziyo kwi-pulmonary artery)
Ukuxilongwa kwe-Wolf-Hirschhorn Syndrome
I-Wolf-Hirschhorn syndrome inokufunyanwa yi-ultrasound ngelixa umntwana esasesibelethweni okanye ngokubonakala emva kokuziswa. Iimpawu zobuso ezihlukileyo ngokuqhelekileyo ziyimpawu zokuqala zokuba umntwana unenkinga. Ukuhlolwa kwe-Genetic kunokuqinisekisa ukuxilongwa.
Ukuba i-Wolf-Hirschhorn ikhunjulwa ngexesha lokukhulelwa, ukuhlolwa kofuzo kungenziwa kunye novavanyo olumgangatho ophezulu oluthiwa yi- fluorescent in hybridation situ (i-FISH) ene-95% echanekileyo ekuqinisekiseni i-disorder.
Uvavanyo olongezelelweyo, olunjenge-X-rays ukuphanda amathambo kunye nokungalunganga kwangaphakathi, i-renal ultrasonography ukuhlolisisa iinjongo, kunye ne-imagery magnetic resonance (MRI) yengqondo inokukunceda ukufumanisa uluhlu lweempawu ezingabantwana.
Unyango lwe-Wolf-Hirschhorn Syndrome
Ekubeni kungekho nonyango ekhoyo yokulungisa isiphene sokuzalwa xa senzekile, unyango lwe-Wolf-Hirschhorn syndrome ligxile ekujonganeni neempawu ezahlukahlukeneyo. Oku kungabandakanya imishanguzo yokunyanga, ukuthintela umzimba kunye nokusebenza kwonyango ukuze kugcinwe ukuhamba komzimba kunye nokuhlanganyelana, kunye nokuhlinzwa ukulungiswa kwelungu elingaqhelekanga.
Nangona kungekho ndlela yokunciphisa imingeni intsapho ejongene nayo xa ijongene ne-Wolf-Hirschhorn syndrome, kubalulekile ukuba ukhumbule ukuba akukho khosi ehleliweyo yesifo.
Abanye abantwana abazalwa ngo-Wolf-Hirschhorn banokuba neenkalo ezincinci, nokuba zikhona, iingxaki zomzimba kwaye ziphile kakuhle. Ubunzima bokukhubazeka kwengqondo buyahlukahluka kakhulu. Ngaloo ndlela, umyinge wokuphila komntwana ophethe iWolf-Hirschhorn akaziwa nje ngokuba ubunzima kunye neempawu zengxaki zihlukeneyo.
Ukujongana kangcono nemingeni yokukhulisa umntwana nge-Wolf-Hirschhorn syndrome, kubalulekile ukufikelela kumaqela okukhuthaza abakwazi ukubonelela ngokugqithisileyo, ulwazi olugxilwe ngesigulane kunye nenkxaso yemoya oyifunayo. Ezi ziquka iChromosome Disorder Group Outreach iqela iBoca Raton, eFlorida kunye neQela leNkxaso ye-4P eSunbury, eOhio.
> Umthombo:
> Battaglia, A .; Carey, J .; South, S; kunye noWright, T. (2015) "Wolf-Hirschhorn Syndrome." GeneReviews . Pagon, R .; Adam, M .; Ardinger, h. okqhubekayo. (eds). Seattle, Washington: Yunivesithi yaseWashington, Seattle.