Matšoao a mangata a liphatsa tsa lefutso a bakoa ke bokooa ba 'mele le kelello
Sefate sa Wolf-Hirschhorn ke lefu la liphatsa tsa lefutso le ka lebisang ho bofokoli ba pelehi le mathata a nts'etsopele. E fella ka likarolo tse sa tšoaneng tsa sefahleho, nako e khutšoane, ho lieha kelellong, le ho se tloaelehe ha mekhoa e mengata ea litho. Ke boemo bo sa tloaelehang 'me ho hakanngoa hore ho etsahala ho e mong ho bana ba 50 000 ba hlahetseng.
Sefate sa Wolf-Hirschhorn se bakoa ke phoso e itseng ka karolo ea liphatsa tsa lefutso tse tsejoang e le chromosome 4p.
Maemong a mangata, sena ha se lefu la lefutso le futsitsoeng empa e le phetoho e hlahang ka boomo. Ha e le hantle, karolo ea 87 lekholong ea batho e tšoenyeha le lefu la Wolf-Hirschhorn, ha ho na pale ea lelapa ea boloetse bona.
Le hoja lefu la Wolf-Hirschhorn le ka hlaha ho batho ba morabe leha e le ofe kapa morabe leha e le ofe, banna ba ameha habeli ke basali.
Matšoao a Wolf-Hirschhorn Syndrome
Sefate sa Wolf-Hirschhorn se baka mafu a mangata likarolong tse ngata tsa 'mele hobane liphoso tsa lefutso li hlaha nakong ea tsoelo-pele ea botalatsi.
E 'ngoe ea matšoao a mangata haholo ke seo ho hlalosoang e le "helmete ea mohlabani oa Segerike". Tsena ka kakaretso li kenyeletsa phatla e hlaheletseng, mahlo a bophara, le lesapo le pharaletseng. Matšoao a mang a ka kenyeletsa:
- Ho lahleheloa ke kelello e tebileng
- Hlooho e nyenyane
- Letlalo le hloekileng
- Nako e khutšoanyane haholo
- Phoso ea matsoho, maoto, sefubeng le mokokotlo
- Mokhoa o fokolang oa mesifa le ho fokola ha mesifa
- E bōpa lihlakore tse bitsoang "simian creases"
- Tlhahlobo e mpe ea liphatsa tsa botona le tsa botšehali
- Litlokotsi (tse etsahalang hoo e ka bang karolo ea 50 lekholong ea batho ba amehileng)
- Bokooa bo tebileng ba pelo, haholo-holo sephahla sa lefu la sephali (se bitsoang "sekoti pelong"), ventricular septal defect (e leng malformation a kamano pakeng tsa likamore tse ka tlaase tsa pelo), le p ulmonic stenosis (ho thibela ho tsoa ho pelo ho methapo ea pulmonary)
Tlhahlobo ea Wolf-Hirschhorn Syndrome
Sefate sa Wolf-Hirschhorn se ka 'na sa fumanoa ke ultrasound ha lesea le ntse le le ka pōpelong kapa ka mor'a ho hlaha. Likarolo tse ikhethang tsa sefahleho ke tloaelo ea pele eo ngoana ae nang le boloetse bona. Ho hlahlojoa ha liphatsa tsa lefutso ho ka netefatsa hore na ho fumanoa eng
Haeba ho belaelloa hore Wolf-Hirschhorn nakong ea bokhachane, tlhahlobo ea liphatsa tsa lefutso le eona e ka etsoa hammoho le tlhahlobo e rarahaneng haholo e bitsoang fluorescent in situ hybridization (FISH) e nang le karolo ea 95 lekholong ho netefatsa lefu lena.
Liteko tse ling, tse kang X-rays ho hlahloba mahlomola a bone le a hare, renal ultrasonography ho hlahloba liphio, le litšoantšo tsa motlakase (MRI) tsa boko li ka thusa ho khetholla matšoao ao ngoana a ka tobanang le 'ona.
Phekolo ea Wolf-Hirschhorn Syndrome
Kaha ha ho phekolo e teng ho rarolla bothata ba tsoalo hang ha e etsahetse, phekolo ea lefu la Wolf-Hirschhorn e lebisa tlhokomelo ho sebetsana le matšoao a sa tšoaneng. Sena se ka kenyelletsa meriana ea ho phekola ho tšoaroa ke mafu, phekolo ea 'meleng le mosebetsing ho boloka tsamaiso ea mesifa le e kopane, le ho buoa ho lokisa litho tse sa tloaelehang.
Le hoja ho se na mokhoa oa ho fokotsa mathata ao lelapa le ka tobanang le 'ona ha a thulana le lefu la Wolf-Hirschhorn, ke habohlokoa ho hopola hore ha ho na mokhoa o behiloeng oa lefu lena.
Bana ba bang ba tsoetsoeng ke Wolf-Hirschhorn ba ka 'na ba e-na le mathata a seng makae a mangata kapa a mang,' me ba phela hantle ho ba batho ba baholo. Boima ba kelello bo ka boela ba fapana haholo. Ka hona, tebello ea bophelo ea ngoana ea nang le Wolf-Hirschhorn ha e tsejoe hobane feela matla le matšoao a lefu lena a sa tšoane.
E le hore u sebetsane hantle le mathata a ho hōlisa ngoana ka Wolf-Hirschhorn syndrome, ke habohlokoa ho fihlella lihlopha tsa bobuelli tse khonang ho fana ka litsebi tsa setsebi, tlhahisoleseling e tsepamisitsoeng ke mokuli, le ts'ehetso ea maikutlo eo ue hlokang. Tsena li kenyeletsa sehlopha sa Chromosome Disorder Outreach Boca Raton, Florida le 4P Support Group e Sunbury, Ohio.
> Mohloli:
> Battaglia, A .; Carey, J .; Boroa, S .; le Wright, T. (2015) "Wolf-Hirschhorn Syndrome." GeneReviews . Pagon, R .; Adama, M .; Ardinger, h. et al. (eds). Seattle, Washington: Univesithi ea Washington, Seattle.