Iyini i-Cornelia de Lange Syndrome? Ake sixoxe ngayo!

Wake wakhathazeka kancane noma waba nesifiso sokufuna ukwazi ngentuthuko yengane yakho encane, noma ngezinye zezinguquko ezincane ekubukekeni kwayo? Kunezingane ezithile ezikhula ngendlela ehlukile kancane kunezinye izingane, futhi ukubukeka kobuso bazo kanye nemilenze yazo kungase kuhluke kancane. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu okufanele usiqaphele. Lokhu kubizwa ngokuthi i-Cornelia de Lange Syndrome (CdLS).

Iyini i-Cornelia de Lan's Syndrome (CdLS)?

Kalula nje, lesi yisimo esingavamile sofuzo . Igama elithi "genetic" lisho okuthile okubangelwa ushintsho ezizakhini zethu zofuzo. Lesi simo sibangela izinguquko ekubukekeni komzimba kwengane, ekukhuleni kwengqondo (njengekhono lokufunda), kanye nokuziphatha.

Into ebalulekile ukuthi lesi simo (i-CdLS) asibathinti bonke abantwana ngendlela efanayo. Nakuba abanye abantwana bengase babe nezimpawu ezincane kakhulu, abanye bangase babe nezimpawu ezinzima kakhulu. Empeleni, azikho izingane ezimbili ezinalesi simo ezifanayo ncamashi. Kodwa-ke, kukhona ukufana okuvamile ekubukekeni nasekuziphatheni kwazo. Lesi simo singathinta izingxenye ezahlukene zomzimba womntwana. Izimpawu eziyinhloko ezivame ukubonakala yilezi:

• Ukukhubazeka kokukhula ngaphambi nangemva kokuzalwa. Lokhu kusho ukuthi umntwana angase anciphe isisindo futhi angakhuli emude.
• Izinguquko ekhanda nasebusweni. Odokotela babiza lezi zinguquko ngokuthi "ukushintsha kobuso bekhanda". Sizoxoxa ngalokhu kamuva.
• Amaphutha athile ezandleni naseminweni.
• Ukuba nezinwele eziningi kunokuvamile emzimbeni nasekhanda. Lokhu kubizwa ngokuthi ``hypertrichosis`` noma ``hirsutism``.
• Ukukhubazeka kwengqondo.

Sivame kangakanani lesi simo?

I-Cornelia de Lann syndrome empeleni iyisimo esingavamile kakhulu . Sikhona lapho kuzalwa. Ngokwezibalo, senzeka cishe koyedwa kwabayi-10,000 abazalwa bephila, noma oyedwa kwabayi-50,000 abazalwa bephila. Kodwa-ke, odokotela bakholelwa ukuthi ezinye izingane ezinalesi simo zingase zingatholakali. Lokhu kungenxa yokuthi uma izimpawu zincane kakhulu, zingase ziphazanyiswe nezinye izimo. Noma, zingase zingaqapheli nokuthi zihlobene ne-(CdLS).

Ziyini izimpawu ze-Cornelia de Lann syndrome?

Njengoba sishilo ekuqaleni, lesi simo asithinti zonke izingane ngendlela efanayo. Izimpawu zingahluka kusuka kumntwana kuya kumntwana. Uma ingane yakho inalesi simo, ungase uqaphele esinye noma ngaphezulu salezi zimpawu ezilandelayo.

Izici ezikhethekile ezibonakala ebusweni nasekhanda

Lokhu sikubiza ngokuthi "izici ezihlukile ze-craniofacial".

• Izinkophe zivame ukubonakala zihlangene phakathi futhi zigobile phezulu (lokhu kubizwa ngokuthi `(synophrys)`).
• Izinkophe zinde kakhulu.
• Ama-earlobes abekwe phansi kunokuvamile.
• Amazinyo mancane futhi kunezikhala ezinkulu phakathi kwawo.
• Impumulo iba ncane futhi ibheke phezulu.
• Ikhanda elincane kunelivamile (odokotela babiza lokhu ngokuthi "i-microcephaly").
• Ukuba nomlomo oqhekekile (lokhu akwenzeki kuwo wonke umuntu, kodwa abanye abantu bangakwenza).

Izici zokuthuthukiswa kwe-neurodevelopment

• Ukulibaziseka kokukhula. Okusho ukuthi, izinto ezifana nokungakhaseki useneminyaka yokukhasa, ukungahambi useneminyaka yokuhamba.
• Abantu abaningi bangaba nokukhubazeka kwengqondo okuphakathi kuya kokubi kakhulu , okusho ukuthi bangase babe nokukhubazeka okuthile ezintweni ezifana nokufunda nokuqonda.

Izici zengqondo

• Bangase babonise amaphethini okuziphatha afana nalawo "(i-Autism spectrum disorder)" . Isibonelo, bangase bangafuni ukuxhumana nabanye futhi bangase baphindaphinde izinto ezifanayo ngokuphindaphindiwe.
• Izimpawu ezifana nezesimo esibizwa ngokuthi i-Attention-deficit/hyperactivity disorder (ADHD) .
• Izinkinga zokukhathazeka.

Ezinye izici ezivamile ezingabonakala

Ngaphezu kwalokhu, i-Cornelia de Lann syndrome ingabangela ezinye izinkinga:

• Ukukhula kancane ngaphambi nangemva kokuzalwa. Lokhu kungabangela ukuba zibe mfushane.
• Ukukhubazeka okuthile ezandleni, eminweni, nasemathanjeni ezandla.
• Ukuba nezinwele eziningi kunokuvamile emzimbeni (i-hirsutism).
• Ukulahlekelwa ukuzwa.
• Izinkinga zesistimu yokugaya ukudla. Isibonelo, i-reflux ye-acid engapheli (GERD).
• Ukungajwayelekile kwezitho zangasese. Njengokuqhekeka kwamasende kubafana (i-cryptorchidism).
• Ukukhubazeka kokubona. Isibonelo, ukubona eduze (i-myopia).
• Ukuquleka (sikubiza ngokuthi 'ukuquleka').
• Isifo senhliziyo. Isibonelo, ukuba nembobo enhliziyweni.

Yini ebangela i-Cornelia de Lan syndrome?

Lesi simo sivame ukubangelwa ushintsho oluyingozi (i-pathogenic variant) kwelinye lama-gene ayisikhombisa . Lawa ma-gene yi-NIPBL, i-SMC1A, i-HDAC8, i-RAD21, i-SMC3, i-BRD4, kanye ne-ANKRD11. Ndawonye, ​​lawa ma-gene asiza into ebizwa ngokuthi i-cohesin complex ukuthi isebenze kahle.

Manje ungase uzibuze ukuthi iyini le `(cohesin complex)`. Kalula nje, leli yiqembu lamaprotheni adlala indima ebaluleke kakhulu lapho umntwana ekhula esibelethweni.Yilokhu okulawula izakhi zofuzo ezidingekayo ukuze kuthuthukiswe kahle izitho zomntwana, ubuso, nezinye izingxenye zomzimba. Ngakho-ke, uma kukhona ushintsho kunoma yiziphi izakhi zofuzo okukhulunywe ngazo ekuqaleni, ukusebenza kwale `(cohesin complex)` kuzophazamiseka. Ngemuva kwalokho, kuzophazamisa ukukhula kwengane kusenesikhathi.

Abantu abaphakathi kuka-60% no-80% abane-`(CdLS)` banalesi simo ngenxa yoshintsho ku-gene ye-`NIPBL`. Lesi simo cishe asibangelwa izinguquko kwezinye izakhi zofuzo eziyisithupha. Kwabanye abantu abangu-5% kuya ku-20%, imbangela yezakhi zofuzo yalesi simo ayikakatholakali.

Ezimweni eziningi, izingane ezinalesi simo azinawo umlando womndeni walesi sifo. Lokhu kusho ukuthi sivame ukubangelwa ushintsho olusha lwezakhi zofuzo (olubizwa ngokuthi i-`de novo mutation`). Kodwa-ke, uma omunye umzali enezimpawu ezincane zalesi simo, banethuba elingu-50% lokuba nengane enalesi simo. Ngokufanayo, uma abazali abaphilile benengane ene-`(CdLS)`, ingozi yokuba nenye ingane enalesi simo ilinganiselwa ukuthi iphakathi kuka-1% no-1.5%.

Yiziphi izinkinga ezingaba khona ngenxa yalesi simo?

Ngenxa yokuthi i-Cornelia de Lann syndrome ithinta izingxenye ezahlukene zomzimba, izinkinga ezahlukahlukene zingavela.

Izinkinga zesistimu yokugaya ukudla

• I-Duodenal atresia: Ukuvaleka kwengxenye yokuqala yamathumbu amancane engane.
• I-hernia ye-diaphragmatic yokuzalwa: Imbobo ku-diaphragm yomntwana (umsipha ohlukanisa isifuba nesisu).
• `(Ukuphazamiseka kokuzala)`: Ukungajwayelekile endleleni amathumbu omntwana akheka ngayo.
• I-pyloric stenosis: Ukuncipha komgodi osuka esiswini somntwana uye emathunjini amancane.
• I-hernia ye-Inguinal: Ingxenye yamathumbu omntwana idlula ngembobo odongeni lwesisu iye endaweni ye-groin.
• Umphimbo kaBarrett: Isimo esingase senzeke ngenxa ye-GERD enzima.

Izinkinga ze-genitourinary

• I-Cryptorchidism: Isimo lapho amasende omntwana wesilisa ehluleka khona ukwehla aye esinqeni ngaphambi kokuzalwa noma ngemuva nje kokuzalwa.
• `(Hypospadias)`: Ezinganeni zesilisa, i-urethra ayivuli endaweni efanele epenis.
• `(I-renal hypoplasia)`: Inso eyodwa noma zombili zomntwana zincane kunezivamile.

Izinkinga zamehlo

• `(Ptosis)`: Ukungakwazi ukuvula iso kahle ngenxa yokuthi ijwabu elingaphezulu ligobile phansi.
• I-Blepharitis: Ukuvuvukala kanye nokutheleleka kwejwabu leso.
• Ukukhubazeka kokubona: Isibonelo, izimo ezifana `(astigmatism)` (ukubona okufiphele ngenxa yokugoba kwengqimba yangaphandle yeso).

Itholakala kanjani i-Cornelia de Lan's syndrome?

Udokotela wengane yakho angase akwazi ukuxilonga lesi simo ngokushesha nje ngemva kokuzalwa noma ngokushesha ngemva kokuzalwa . Udokotela uzohlola ingane yakho ngokomzimba, ahlole izimpawu, futhi abuze ngomlando wezokwelapha womndeni wakho.

Kodwa-ke, izimpawu zomntwanaUma kuncane kakhulu, kungaba nzima ukuthola lesi simo. Ezimweni ezinjalo, udokotela angase acele ukuhlolwa kofuzo ukuqinisekisa ukuxilongwa.

Akuvamile kakhulu ukuthi lesi simo sitholakale ngaphambi kokuba umntwana azalwe. Lokhu kubizwa ngokuthi ukuhlolwa kofuzo kwangaphambi kokubeletha . Kungahlonza izinguquko zofuzo ezibangela lesi simo.

Iphathwa kanjani i-Cornelia de Lan's syndrome?

Ukwelashwa kwalesi simo kuyahlukahluka kusuka enganeni kuya enganeni, kuye ngezimpawu ingane ngayinye enazo. Ngenxa yokuthi lesi simo sithinta izingxenye eziningi zomzimba, ithimba lodokotela lizosebenzisana ukuhlela ukwelashwa. Ukwelashwa kungafaka:

Ukudla okunempilo kanye nokondla

• Ukufaka ipayipi le-gastrostomy ukuze kuhlinzekwe ifomula enamakhalori aphezulu kanye/noma ukudla ukuvimbela ukubambezeleka kokukhula komntwana.
• Funa iseluleko kuchwepheshe wezokudla ukuze uxoxe ngezinkinga zokudla.

Ukuhlinzwa

• Ukukhubazeka kwamathambo.
• Izinkinga zesistimu yokugaya ukudla.
• Isifo senhliziyo.
• Ulwanga oluqhekekile.
• Amasende angakafiki phansi.

Kungase kudingeke ukuhlinzwa ukuze kwelashwe izimo ezinjengalezi.

Imithi

• Imithi yokulwa nokuxhuzula ilawula noma ivimbele ukuxhuzula (ukuxhuzula).
• Imithi yokucindezeleka yokulawula ukuziphatha okulimazayo noma okunolaka.
• Ama-antibiotic elapha izifo zokuphefumula.

Ezinye izinkinga zokugaya ukudla kanye nenhliziyo nazo zingelashwa ngemithi.

Ukwelashwa

Lokhu kwelashwa kudingeka kuqhutshekwe kukho konke ukuphila komntwana. Izindlela ezahlukene zokwelapha zingasetshenziswa ukubhekana nokubambezeleka kokukhula, ukukhubazeka kwengqondo, kanye nezinkinga zokuziphatha enganeni. Lokhu kungafaka:

• Ukwelashwa ngokomzimba.
• Ukwelashwa emsebenzini.
• Ukwelashwa ngenkulumo.
• Ukwelapha ngengqondo.

Ngaphezu kwalokho, kunesidingo sokuhlolwa okuqhubekayo nokuqapha imisebenzi ethile kanye nokubambezeleka kokukhula kuyo yonke impilo yomntwana. Lokhu kuhlanganisa:

• Ukuhlolwa kokuzwa nokubona.
• Ukukhula kanye nokuthuthukiswa kwe-psychomotor (ukusebenza ngendlela umuntu acabanga ngayo).
• Umsebenzi wenhliziyo nezinso.
• Ukusebenza kwesistimu yokugaya ukudla.

Lokhu kufanele kuhlolwe njalo odokotela.

Ingakanani iminyaka yokuphila komuntu one-Cornelia de Lann syndrome?

Isikhathi sokuphila kwabantu abanalesi simo sivamile kakhulu.Iningi lezingane ezinalesi simo ziphila kahle zize zibe ngabantu abadala. Kodwa-ke, uma ingane inezinye zezimpawu ezibucayi kakhulu zalesi sifo (ikakhulukazi izinkinga zenhliziyo nomphimbo), kunganciphisa isikhathi sayo sokuphila kancane.

Abantu abadala abane-CdLS bangadinga ukunakekelwa kwezokwelapha okuqhubekayo impilo yabo yonke. Uma kuvela izinkinga, ukubikezela kuncike ebunzimeni kanye nokwelashwa.

Ingabe lesi simo singavinjelwa?

Ngenxa yokuthi kuyisimo sofuzo, i-Cornelia de Lann syndrome ayinakuvinjelwa. Uma uhlela ukukhulelwa futhi ufuna ukwazi ngengozi yakho yokuba nengane enalesi simo, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo noma ukuhlolwa kofuzo .

Kuvamile ukuzizwa ushaqekile futhi udabuke lapho uthola ukuthi ingane yakho inesifo esingavamile sofuzo. Kodwa khumbula, iningi lezingane ezine-Cornelia de Lann syndrome ziphila impilo egcwele futhi zikhula kahle zize zibe ngabantu abadala.

Uma isimo sengane yakho sesitholakele, udokotela wakho uzokhuluma nawe ngezindlela ezahlukene zokwelapha. Kungase kudingeke futhi ukuthi usebenzisane nethimba lochwepheshe. Into ebaluleke kakhulu ukufunda okuningi ngangokunokwenzeka ngesimo sengane yakho bese uhola ekuhlinzekeni ukunakekelwa okungcono kakhulu.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake sifingqe amanye amaphuzu abalulekile okudingeka uwakhumbule kulokho esikhulume ngakho:

• I-Cornelia de Lan syndrome (CdLS) iyisifo esingavamile esibangelwa izakhi zofuzo.
• Lokhu kungathinta ukubukeka kwengane, ukukhula kwayo, ukuhlakanipha kwayo kanye nokuziphatha kwayo .
• Izimpawu ziyahlukahluka kusuka kusana kuya kosana ; ezinye zincane, ezinye zinzima.
• Isizathu ushintsho lwezakhi zofuzo.
• Ukwelashwa kuncike ezimpawini zomntwana. Izindlela zokwelapha ezahlukahlukene, okuhlanganisa nokuhlinzwa uma kudingeka, kanye nemithi kungasetshenziswa.
• Nakuba lesi simo singenakuvinjelwa, ukwelulekwa ngofuzo kungakusiza ukuthi ufunde ngengozi yakho.
• Ukuhlonza kusenesikhathi, ukwelashwa okufanele, kanye nokunakekelwa ngothando kungasiza laba bantwana ukuba baphile impilo enenjongo.

Uma uneminye imibuzo noma ukukhathazeka ngalokhu, qiniseka ukuthi ukhuluma nodokotela womndeni wakho noma udokotela wezingane. Bazokunikeza isiqondiso osidingayo.

I- Cornelia de Lange syndrome, i-CdLS, izifo zofuzo, impilo yengane, ukubambezeleka kokukhula, izici zomzimba, izifo ezingavamile