Ingabe ingane yakho inalezi zimpawu? Ake sixoxe nge-Jacobsen Syndrome

Uke waphawula noma yiziphi izinguquko noma izinkinga ngokukhula noma ukubukeka kobuso bengane yakho? Ngezinye izikhathi, isimo esingavamile njenge-Jacobsen Syndrome singaba yimbangela yalokhu. Ungakhathazeki, sizogcina konke kulula.

Iyini i-Jacobsen Syndrome?

Kalula nje, i-Jacobsen Syndrome iyisimo esingavamile esihlobene nama-chromosome emzimbeni wethu. Izakhi zofuzo zethu zitholakala kula ma-chromosome. Kulesi simo, izakhi zofuzo eziningana azikho noma zisusiwe engxenyeni ye-chromosome yethu 11. Ukuze kube sobala, lezi zakhi zofuzo azikho ekugcineni kwengalo ende (ingalo ye-q) yale chromosome. Yingakho ibizwa nangokuthi i-11q terminal deletion disorder.

Cabanga nje, uma ingxenye encane ye-chromosome 11 ingekho, inani lezakhi zofuzo ezithintekile nalo liyancipha. Ngemuva kwalokho izimpawu zingase zinciphe kancane. Kodwa uma ingxenye enkulu ingekho, izimpawu ziba zimbi kakhulu. Lapho abanye abantu benengxenye encane kuphela engekho ngale ndlela, kubizwa ngokuthi i-partial Jacobsen syndrome noma i-partial monosomy 11q. I-Monosomy yilapho ingxenye ye-chromosome pair ingekho.

Izingane ezine-Jacobsen Syndrome zinezinkinga zokukhula , izinkinga zokuziphatha , kanye nezici zobuso ezihlukile . Izingane eziningi nazo zinokukhubazeka kwenhliziyo okuzalwe nakho . Zinamathuba amaningi okuba nesifo sokopha esibizwa ngokuthi i-Paris-Trousseau syndrome.

Okwamanje akukho ikhambi eliphelele lalokhu, futhi isikhathi sokusinda siyahlukahluka kumuntu nomuntu.

Ziyini izimpawu ze-Jacobsen Syndrome?

Izimpawu ze-Jacobsen Syndrome ziyahlukahluka kuye ngobukhulu nendawo lapho kususwe khona. Abantu abaningi babhekana nokubambezeleka ekuthuthukisweni kwamakhono okukhuluma kanye nokunyakaza komzimba . Bangase babe nokukhubazeka kokuqonda kanye nokunye ukukhubazeka kokufunda .

Izingane eziningi ezine-Jacobsen Syndrome nazo zinezinkinga zokuziphatha . Isibonelo, ukuziphatha okuphoqelekile kanye nokunganaki isikhathi eside. Izingane eziningi zitholakala zinesifo esibizwa ngokuthi i-Attention-Deficit/Hyperactivity Disorder (ADHD) . Lesi simo sihlotshaniswa nengozi eyengeziwe yokuthola i-Autism Spectrum Disorders .

Izici zobuso ezithile

Izingane ezine-Jacobsen Syndrome zinezimpawu eziningana ezihlukile zobuso. Lezi zihlanganisa:

• Ukuba nekhanda elikhulu - i-macrocephaly
• Ibunzi elicijile ngenxa yokungajwayelekile kwekhanda (i-trigonocephaly)
• Izindlebe ezincane, eziphansi
• Amehlo aqhelelene kakhulu - i-hypertelorism
• Amajwabu amehlo awela phansi - i-ptosis
• Ukuba khona kwesimbobo sesikhumba ekhoneni elingaphakathi leso - ama-epicanthal folds
• Ibhuloho elibanzi lekhala
• Amakhona omlomo aphendukela phansi
• Udebe olungaphezulu oluncane
• I-undercut encane

Ezinye izici

Ezinye izici eziningana zingabonakala:

• Izinkinga zenhliziyo ezizalwa nazo
• Ubunzima bokudla
• Ukubambezeleka kokukhula ngaphambi nangemva kokuzalwa
• Ubude obufushane
• Ukutheleleka okuvamile kwe-sinus kanye nendlebe
• Ukuphazamiseka kwesistimu yokugaya ukudla, izinso, kanye nezitho zangasese

Abantu abaningi abane-Jacobsen Syndrome nabo banesifo sokopha esibizwa ngokuthi i-Paris-Trousseau syndrome . Lokhu kuthinta ama-platelet engane yakho. Ama-platelet awuhlobo lweseli olusiza ukujiya kwegazi. Nge-Paris-Trousseau syndrome, ingane isengozini yokopha okungavamile kukho konke ukuphila kwayo, futhi ingase ivuvuke kalula.

Yiziphi izimbangela ze-Jacobsen Syndrome?

I-Jacobsen Syndrome iyisifo se-chromosome . Njengoba wazi, ama-chromosome yizinto eziqukethe ulwazi lwethu lwezakhi zofuzo (izakhi zofuzo). Lawa ma-gene anquma ukuthi imizimba yethu kufanele ikhule futhi isebenze kanjani. Ngokuvamile, kunezimbhangqwana ezingama-22 zama-chromosome anezinombolo emzimbeni womuntu, kanye ne-pair eyodwa yama-chromosome ocansi. I-chromosome ngayinye inengalo emfushane (ingalo ye-p) kanye nengalo ende (ingalo ye-q).

Kwabanye abantu, izakhi zofuzo eziningana ekugcineni kwengalo ende (q) ye-chromosome 11 ziyasuswa. Ingxenye yesibili ye-chromosome 11 ivame ukuba iphelele. Lena imbangela ye-Jacobsen Syndrome. Uma usayizi wokususwa umkhulu, kulapho izimpawu ziba zimbi khona. Kuye ngobukhulu bokususwa, le ndawo ingaba nezakhi zofuzo ezisukela ku-170 kuya ku-340. Izakhi zofuzo kulesi sifunda zinomthwalo wemfanelo wokuthuthukiswa okufanele kwenhliziyo yethu, ubuchopho, kanye nezici zobuso.

Ingabe lokhu kuyabusa noma kuyabusa?

Okubusayo noma okuphindaphindekayo kubhekisela endleleni othola ngayo izakhi zofuzo zakho kubazali bakho.

Kodwa,Ezimweni eziningi, i-Jacobsen Syndrome ayilona ifa. Okusho ukuthi, ayizuzwa kubazali. Ngokuvamile ibangelwa yiphutha elingahleliwe ekuhlukanisweni kwamaseli ngesikhathi sokuthuthukiswa kombungu, okuholela ekulahlekelweni kwengxenye ye-chromosome. Akukho lutho abazali abangakwenza ukuyivimbela, futhi akukho lutho abangakwenza ukuyivimbela. Abantu abane-Jacobsen Syndrome ngokuvamile abanawo umlando womndeni walesi simo. Kodwa-ke, bangadlulisela lesi simo ezinganeni zabo.

Akuvamile kakhulu ukuthi abantu abane-Jacobsen Syndrome bangathola lesi simo kumzali ongenazo izimpawu. Lokhu kwenzeka lapho umzali eba nesenzakalo esiyinkimbinkimbi sezakhi zofuzo esibizwa ngokuthi i-balanced translocation . Kalula nje, ingxenye ye-chromosome 11 kanye nengxenye yezinye izindawo zokushintshana kwe-chromosome. Lokhu akunciphisi izinto zezakhi zofuzo, ngakho abazali ababonisi izimpawu. Kodwa-ke, lapho la ma-chromosome edluliselwa, izingane zingase zibe nokungalingani.

Yiziphi izinto ezibangela ingozi?

I-Jacobsen Syndrome yisimo sofuzo esingathinta noma ubani. Ucwaningo oluthile luthole ukuthi sithinta amantombazane kaningi.

Odokotela bakuthola kanjani lokhu?

Udokotela wakho angase akwazi ukuthola i-Jacobsen Syndrome ngesikhathi sokukhulelwa kwakho. Uma ukuhlolwa kwe-ultrasound kwangaphambi kokubeletha kuphakamisa noma yikuphi ukukhathazeka, udokotela wakho angase ancome ukuhlolwa okwengeziwe. Ukuhlolwa okuvamile kokuhlolwa kofuzo kwangaphambi kokubeletha kufaka phakathi:

• Ukuhlolwa kokukhulelwa okungahlaseli (i-NIPT): Lokhu kuhilela ukuthatha inani elincane le-DNA yengane yakho kusampula yegazi lakho bese uhlola noma yikuphi ukukhubazeka enanini lama-chromosome.
• Ukuhlolwa kwe-Chorionic villus (CVS): Udokotela usebenzisa inaliti ukuze athathe isampula yamaseli avela ku-placenta.
• I-Amniocentesis: Udokotela usebenzisa inaliti ukuthatha isampula yoketshezi lwe-amniotic esibelethweni.

Ngemva kokuzalwa kwengane, udokotela wengane angaxilonga i-Jacobsen Syndrome ngokwenza ukuhlolwa kofuzo . Kulokhu kuhlolwa kofuzo, udokotela uthatha isampula yegazi lengane ayibuke ngaphansi kwe-microscope. Afaka ama-chromosomes kusampula, abukeka njengebhakhodi. Lokhu kungabheka ama-chromosomes aphukile, izakhi zofuzo ezingekho. Ngokuvamile, ingxenye ephukile ikwi-chromosome 11. Kodwa-ke, kudingeka ukuhlolwa okwengeziwe kofuzo ukuthola indawo eqondile yokuqhekeka.

Olunye uvivinyo yi- Microarray Comparative Genomic Hybridization (Array CGH).Ngezinye izikhathi izinguquko ezincane kakhulu kuma-chromosome, ezincane kakhulu ukuba zingabonwa ngaphansi kwe-microscope, zingabangela i-Jacobsen Syndrome. Yilapho odokotela benza khona lolu vivinyo lwe-Array CGH. Lokhu kukhombisa izinguquko ezincane kakhulu ku-DNA kuwo wonke ama-chromosome omntwana. Kungathola ukuthi i-DNA iphindaphindiwe, iphazamisekile, noma ayikho.

Iphathwa kanjani i-Jacobsen Syndrome?

Ayikho ikhambi le-Jacobsen Syndrome. Ukwelashwa kugxile kakhulu ku:

• Ukuphatha izimpawu zengane yakho
• Ukumsiza afinyelele izigaba zakhe zentuthuko
• Ukugwema izinkinga zempilo

Kubantwana abanenkinga yokudla, odokotela bangase batuse ithubhu ye-gastrostomy (i-G-tube) . Leli thubhu lifakwa ngqo esiswini somntwana ukuze lilethe ukudla. Ukuhlinzwa okubizwa ngokuthi i-fundoplication kungalungisa inkinga nge-valve engezansi komphimbo.

Ingane yakho ingadinga okunye ukuhlinzwa. Isibonelo, ukuhlinzwa ukuze kulungiswe izinkinga zekhanda, njenge- trigonocephaly . Kungadingeka nokuhlinzwa ukuze kulungiswe izinkinga zokubona noma zamehlo. Kungadingeka nokuhlinzwa ukuze kulungiswe amaphutha amathambo, enhliziyo, kanye nezinye izinkinga.

Udokotela wengane yakho angase akunike imithi ethile yezinkinga ezithile zenhliziyo. Isibonelo, imithi yokulwa nokushaya kwenhliziyo . Lena imithi esiza ukuvimbela noma ukulungisa izigqi zenhliziyo ezingavamile. Bangase bakunike imithi yokukhipha isisu . Lena imithi esiza ukususa amanzi angaphezulu emzimbeni.

Odokotela bangase batuse izibuko zokulungisa, ama-contact lens, noma ukuhlinzwa ngenxa yokukhubazeka kwamehlo.

Odokotela bangase banikeze igazi noma bafake ama-platelet ukuze baphathe imiphumela ye- Paris-Trousseau syndrome . Bangase bakunike nomuthi obizwa ngokuthi i-desmopressin , osiza ekuqhekekeni kwegazi lakho.

Ingane yakho izofinyelela nakanjani izigaba zayo zokukhula ngesinye isikhathi. Kodwa-ke, ukungenelela kusenesikhathi kungayisiza ifinyelele amandla ayo aphelele. Udokotela wengane yakho angase atuse okulandelayo:

• Imfundo ekhethekile yokwelapha
• Ukwelashwa ngokomzimba
• Ukwelashwa ngenkulumo

Yini engingayilindela uma ingane yami ine-Jacobsen Syndrome?

Isikhathi sokuphila kwabantu abane-Jacobsen Syndrome siyahlukahluka kuye ngokuthi izimpawu zabo zibucayi kangakanani. Ngenxa yezimo zenhliziyo ezinzima kanye nezinkinga zokujiya kwegazi, cishe ama-20% ezinsana ezine-Jacobsen Syndrome ziyafa zingakafiki eminyakeni emi-2.

Kodwa-ke, izingane eziningi ezine-Jacobsen Syndrome ziphile zaze zaba ngabantu abadala. Abantu abadala abanalesi simo bangaphila impilo ejabulisayo neyanelisayo ngamazinga ahlukahlukene okuzimela.

Ingabe i-Jacobsen Syndrome ingavinjelwa?

Ngenxa yokuthi kuyisimo sofuzo, i-Jacobsen Syndrome ayinakuvinjelwa. Uma ukhulelwe noma uhlela ukukhulelwa, buza udokotela wakho mayelana nokwelulekwa ngofuzo . Umeluleki wezakhi zofuzo angakusiza uqonde ingozi yakho yokuba nengane ene-Jacobsen Syndrome.

Ukuthola ukuthi ingane yakho ine-Jacobsen Syndrome kungaba yinto eyesabekayo. Ungesabi, kodwa zinike isikhathi sokufunda okuningi ngangokunokwenzeka mayelana nokuxilongwa kwengane yakho. Uma kungenzeka, zama ukuthola udokotela oqonda isimo sengane yakho. Anganikeza ingane yakho izinketho zokwelapha ezingcono kakhulu.

Ukuze sikusize ubhekane nokuxilongwa kwengane yakho, bheka amaqembu okusekelana . Abanye abake baba sesimweni esifanayo nesakho bangakunikeza ulwazi namandla owadingayo ukuze usize ingane yakho.

Umlayezo Wokuya Nawe Ekhaya

I-Jacobsen Syndrome iyisimo esingavamile futhi esingaba yinkimbinkimbi, kodwa khumbula, awuwedwa.

• Lokhu kubangelwa ukuguquka kwezakhi zofuzo okungahleliwe , hhayi iphutha labazali.
• Ukuhlonza kanye nokungenelela kusenesikhathi kubaluleke kakhulu ekuthuthukiseni ikhwalithi yempilo yengane.
• Funa usizo kodokotela abangochwepheshe, abelaphi, kanye nabeluleki .
• Amandla nolwazi olutholakala emaqenjini okusekelana nabanye abazali lubaluleke kakhulu.
• Ingane ngayinye ihlukile. Phatha ingane yakho ngothando nangesineke ngokwamakhono ayo nezidingo zayo.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela wakho.

I- Jacobsen Syndrome, ukungalingani kwe-chromosome, i-chromosome 11, isifo se-genetic, ukubambezeleka kokukhula, i-Paris-Trousseau syndrome, ukukhubazeka kwenhliziyo okuzalwe nakho, ukwelulekwa kwe-genetic