Matenda achibadwa ambiri amabweretsa zofooka zathupi ndi zamaganizo
Matenda a Wolf-Hirschhorn ndi matenda a chibadwa omwe angabweretse mavuto obadwa ndi mavuto. Zimabweretsa maonekedwe osiyana, mawonekedwe afupipafupi, kuchepetsa maganizo, ndi zolakwika za ziwalo zingapo zagulu. Ndizosavomerezeka ndipo zimawerengedwa kuti zimapezeka m'modzi mwa obadwa 50,000.
Matenda a Wolf-Hirschhorn amachokera ku zolakwika zina pambali ya jini yotchedwa chromosome 4p.
Nthaŵi zambiri, ichi si matenda obadwa nawo a chibadwa koma osati kusintha komwe kumachitika pokhapokha. Ndipotu, anthu 87 pa 100 alionse amadandaula ndi matenda a Wolf-Hirschhorn, palibe mbiri ya banja ya matendawa.
Ngakhale matenda a Wolf-Hirschhorn angathe kuchitika kwa anthu a mtundu uliwonse kapena mtundu uliwonse, amuna amtundu uliwonse amakhudzidwa ndi kawiri kawiri.
Zizindikiro za Wolf-Hirschhorn Syndrome
Matenda a Wolf-Hirschhorn amachititsa ziphuphu m'madera ambiri a thupi chifukwa cholakwika cha chibadwa chimakhalapo pakakula.
Chimodzi mwa zizindikilo zooneka bwino ndizo "chipewa chachi Greek". Zonsezi zimaphatikizapo mphumi yotchuka, maso ophwanyika, ndi mphuno yamphwa. Zizindikiro zina zingakhalepo:
- Kutaya mtima kwambiri
- Mutu waung'ono
- Pulogalamu yamakono
- Nthawi yayitali kwambiri
- Kusintha kwa manja, mapazi, chifuwa, ndi msana
- Kutsika kwa minofu ndi kupweteka kwa minofu
- Zowonongeka ku mitengo ya kanjedza yotchedwa "simian creases"
- Kusokoneza maganizo kapena kusokoneza mazira ndi mavitamini
- Kugonjetsa (kumachitika pafupifupi 50 peresenti ya anthu okhudzidwa)
- Matenda aakulu a mtima, makamaka matenda a malaria a m'mimba (omwe amadziwika kuti "dzenje pamtima"), ventricular septal defect (malformation of link pakati pa zipinda zapansi za mtima), ndi p ulmonic stenosis (kulepheretsa kutuluka kwa mtima kwa pulmonary artery)
Kusanthula kwa Wolf-Hirschhorn Syndrome
Matenda a Wolf-Hirschhorn amatha kupezeka ndi ultrasound pamene mwana akadali m'mimba kapena poonekera atatha kubadwa. Maonekedwe osiyana ndi omwe ali chidziwitso choyamba kuti mwanayo ali ndi matendawa. Kuyeza kwa majeremusi kungatsimikizire kuti akudwala matendawa.
Ngati mukuganiza kuti Wolf-Hirschhorn akakhala ndi pakati, mayesero achibadwa angapangidwe komanso kuyesedwa kovuta kwambiri komwe kumatchedwa fluorescent in situ hybridization (FISH) yomwe ili ndi chiwerengero cha 95 peresenti povomereza vutoli.
Mayesero ena, monga X-rays kufufuza zolakwika za mafupa ndi zamkati, renal ultrasonography kuyesa impso, ndi kujambula kwa maginito (MRI) ya ubongo kungathandize kuzindikira zizindikiro za mwana zomwe angayang'ane nazo.
Kuchiza kwa Wolf-Hirschhorn Syndrome
Popeza palibe mankhwala omwe angathandize kuthetsa vuto la kubadwa kamodzi kokha, chithandizo cha matenda a Wolf-Hirschhorn matenda chimayang'ana kuthana ndi zizindikiro zosiyanasiyana. Izi ziphatikizapo mankhwala ochiza matenda, matenda ndi thupi komanso kugwira ntchito kuti asamangidwe, komanso opaleshoni yokonzanso ziwalo.
Ngakhale palibe njira yochepetsera mavuto omwe banja lingakumane nawo pamene akukumana ndi matenda a Wolf-Hirschhorn, ndibwino kukumbukira kuti palibe njira yothetsera vutoli.
Ana ena obadwa ndi Wolf-Hirschhorn angakhale ndi mavuto ochepa chabe, ngati ali ndi ziwalo zazikulu ndipo amakhalanso achikulire. Kufooka kwa ubongo wa m'maganizo kungakhalenso kosiyana kwambiri. Choncho, nthawi yokhala ndi moyo kwa mwana yemwe ali ndi Wolf-Hirschhorn sichidziwika chifukwa chovuta komanso zizindikiro za matendawa ndizosiyana.
Kuti mupirire mavuto omwe mungakumane nawo polerera mwana ndi Wolf-Hirschhorn matenda, nkofunika kuti mufikire kwa magulu othandizira omwe angathe kupereka akatswiri othandizira, odziwa zambiri za odwala, komanso chithandizo chomwe mukufunikira. Izi zikuphatikizapo Chromosome Disorder Outreach gulu Boca Raton, Florida ndi 4P Support Group ku Sunbury, Ohio.
> Chitsime:
> Battaglia, A .; Carey, J ;; South, S .; ndi Wright, T. (2015) "Wolf-Hirschhorn Syndrome." GeneReviews . Pagon, R .; Adam, M .; Ardinger, h. et al. (eds). Seattle, Washington: University of Washington, Seattle.