Ukuphazamiseka okwejwayelekile kwezakhi zofuzo kubangela ukukhubazeka ngokomzimba nangokwengqondo
I-Wolf-Hirschhorn syndrome iyisifo esingokwemvelo esingabangela ukukhubazeka kokuzalwa nezinkinga zokuthuthukiswa. Kubangele izici zobuso ezihlukile, isishwane esifushane, ukuphuza kwengqondo, nokungajwayelekile kwezinhlelo eziningana zomzimba. Isimo esingavamile futhi kulinganiselwa ukuthi senzeke kwenye eyodwa kuzo zonke izingane zokuzalwa ezingu-50,000.
I-Wolf-Hirschhorn syndrome ibangelwa iphutha elithile engxenyeni yegesi eyaziwa ngokuthi i-chromosome 4p.
Ezimweni eziningi, lokhu akuyona isifo sofuzo esizuze njengefa kodwa kunokuguquka okwenzekayo ngokuzenzekelayo. Eqinisweni, ngamaphesenti angu-87 abantu abahlukunyezwa ne-Wolf-Hirschhorn syndrome, akakho umlando womndeni wesifo.
Ngenkathi i-Wolf-Hirschhorn syndrome ingenzeka kubantu banobuhlanga noma ubuhlanga, abesifazane abathintekayo kabili njengabesilisa.
Izimpawu ze-Wolf-Hirschhorn Syndrome
I-Wolf-Hirschhorn syndrome ibangela ukukhubazeka ezingxenyeni eziningi zomzimba ngoba iphutha lofuzo livela ngesikhathi sokuthuthukiswa komntwana.
Esinye sezibonakaliso eziphawulekayo yilokho okuchazwa ngokuthi "isigqoko samahhashi esiGreki". Lezi zinhlanganiso zihlanganisa ubuso obuvelele, amehlo aphakanyisiwe, nekhala elibanzi. Ezinye izimpawu zingabandakanya:
- Ukuphuza kwengqondo okujulile
- Inhloko encane
- I-flaft palate
- Isikhathi esifushane kakhulu
- Ukuhlukunyezwa kwezandla, izinyawo, isifuba nomgogodla
- Izwi eliphansi lemisipha kanye nentuthuko emisipha empofu
- I-Creases phakathi kwezintende zezandla ezibizwa nge "simian creases"
- Ukuthuthukiswa noma ukuhlukunyezwa kwezitho zangasese kanye ne-urinary tract
- Ukuhluleka (okwenzeka cishe amaphesenti angu-50 abantu abathintekayo)
- Ukukhubazeka okukhulu kwenhliziyo, ikakhulukazi i- atrial septal defect (eyaziwa ngokuthi "umgodi enhliziyweni"), i-ventricular septal defect (i-malformular septal defect (i-malformation of the connection phakathi kwamakamelo aphansi enhliziyo), kanye ne-ulmonic stenosis (ukuvimbela ukugeleza kusuka inhliziyo emthini we-pulmonary)
Ukuxilongwa kwe-Wolf-Hirschhorn Syndrome
I-Wolf-Hirschhorn syndrome ingatholakala ukuthi i-ultrasound ngenkathi umntwana esesesibelethweni noma ngokubukeka ngemva kokubeletha. Izici ezibonakalayo zobuso ngokuvamile ziyisiqalo sokuqala sokuthi ingane ine-disorder. Ukuvivinya nge-genetic kungaqinisekisa ukuxilongwa.
Uma i-Wolf-Hirschhorn isolwa ngesikhathi sokukhulelwa, ukuhlolwa kofuzo nakho kungenziwa kanye nokuhlolwa okunamandla okubizwa ngokuthi i- fluorescent in hybridization (FISH) ene-95% ngokunembile ekuqinisekiseni lesi sifo.
Ukuhlolwa okungeziwe, okufana ne-X-ray ukuphenya izinkinga zamathambo nezangaphakathi, i-renal ultrasonography ukuhlola izinso, nokucabangela kwe-magnetic resonance (MRI) yobuchopho kungasiza ekuboneni ububanzi bezimpawu ingane engase ibhekane nayo.
Ukwelashwa kwe-Wolf-Hirschhorn Syndrome
Njengoba kungekho ukwelashwa okukhona okulungisa ukukhubazeka kokuzalwa uma kwenzeka, ukwelashwa kwe-Wolf-Hirschhorn syndrome kugxile ekubhekaneni nezimpawu ezihlukahlukene. Lokhu kungabandakanya imithi yokwelashwa, ukwelapha ngokomzimba kanye nokusebenza ukuze kugcinwe ukuhamba kwamasipha kanye nokuhlanganyela, kanye nokuhlinzekwa ukulungisa izimo ezingavamile.
Nakuba kungekho ndlela yokunciphisa izinselele umndeni ongabhekana nazo uma ubhekene ne-Wolf-Hirschhorn syndrome, kubalulekile futhi ukukhumbula ukuthi ayikho inkambo ehleliwe yesifo.
Ezinye izingane ezizalwa neWolf-Hirschhorn zingase zibe nezinkinga ezimbalwa zezinhlaka, uma zikhona, futhi ziphile kahle. Ubukhulu bokukhubazeka kwengqondo nakho kungashintsha kakhulu. Ngakho-ke, isikhathi sokuphila sokuphila kwengane ene-Wolf-Hirschhorn engaziwa nje ngoba ubunzima nezibonakaliso zesifo zihlukahlukene kakhulu.
Ukuze ubhekane nezinselele zokukhulisa ingane nge-Wolf-Hirschhorn syndrome, kubalulekile ukufinyelela kumaqembu okukhuthaza ukuthi akwazi ukuhlinzeka ngokudluliselwa kochwepheshe, ulwazi olugxilwe ngesineke, nokusekelwa ngokomzwelo okudingayo. Lezi zihlanganisa iqembu le-Chromosome Disorder Outreach Boca Raton, Florida kanye ne-4P Support Group eSunbury, e-Ohio.
> Umthombo:
> Battaglia, A .; Carey, J .; South, S .; no-Wright, T. (2015) "Wolf-Hirschhorn Syndrome." GeneReviews . I-Pagon, i-R .; Adam, M .; U-Ardinger, h. et al. (ama-eds). Seattle, Washington: University of Washington, Seattle.