Yintoni iCornelia de Lange Syndrome? Makhe sithethe ngayo!

Ngaba wakha wakhathazeka kancinci okanye wanomdla wokukhula komntwana wakho, okanye ngezinye zeendlela ezitshintsha ngayo inkangeleko yakhe? Kukho ezinye iintsana ezikhula ngendlela eyahlukileyo kunezinye iintsana, kwaye inkangeleko yobuso kunye namalungu azo asenokuhluka kancinci. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyiqaphele. Oku kubizwa ngokuba yiCornelia de Lange Syndrome (CdLS).

Yintoni iCornelia de Lan's Syndrome (CdLS)?

Ngamafutshane, le yimeko engaqhelekanga yemfuza . Igama elithi "genetic" lithetha into ebangelwa kukutshintsha kwemfuza yethu. Le meko ibangela utshintsho kwinkangeleko yomzimba yomntwana, uphuhliso lwengqondo (njengobuchule bokufunda), kunye nokuziphatha.

Into ebalulekileyo kukuba le meko (i-CdLS) ayibachaphazeli bonke abantwana ngendlela efanayo. Nangona abanye abantwana benokuba neempawu ezincinci kakhulu, abanye banokuba neempawu ezinzima kakhulu. Enyanisweni, akukho bantwana babini abanale meko abafana ncakasana. Nangona kunjalo, kukho ukufana okufanayo kwinkangeleko yabo kunye nokuziphatha kwabo. Le meko inokuchaphazela iindawo ezahlukeneyo zomzimba womntwana. Iimpawu eziphambili ezihlala zibonwa zezi:

• Ukulibaziseka kokukhula ngaphambi nasemva kokuzalwa. Oku kuthetha ukuba umntwana usenokuncipha ubunzima aze angakhuli mde.
• Utshintsho entlokweni nasebusweni. Oogqirha babiza olu tshintsho ngokuthi "lutshintsho lwe-craniofacial". Siza kuthetha ngalo mbandela kamva.
• Iziphene ezithile ezandleni nakwiminwe.
• Ukuba neenwele ezininzi kunesiqhelo emzimbeni nasentloko. Oku kubizwa ngokuba yi-"hypertrichosis" okanye "hirsutism".
• Ukukhubazeka kwengqondo.

Ixhaphake kangakanani le meko?

I-Cornelia de Lann syndrome yimeko engaqhelekanga kakhulu . Ikho xa izalwa. Ngokwezibalo, iyenzeka malunga nomntwana omnye kwabayi-10,000 abazelwe bephila, okanye omnye kwabayi-50,000 abazelwe bephila. Nangona kunjalo, oogqirha bakholelwa ukuba ezinye iintsana ezinale meko zisenokungafunyaniswa. Oku kungenxa yokuba ukuba iimpawu zincinci kakhulu, zisenokuphazama nezinye iimeko. Okanye, zisenokungaqondi nokuba zihlobene ne-(CdLS).

Zithini iimpawu zeCornelia de Lann syndrome?

Njengoko besitshilo ngaphambili, le meko ayichaphazeli umntwana ngamnye ngendlela efanayo. Iimpawu zingahluka ukusuka kumntwana ukuya kumntwana. Ukuba umntwana wakho unale meko, unokubona enye okanye ezingaphezulu kwezi zilandelayo.

Iimpawu ezikhethekileyo zibonwa ebusweni nasentloko

Sizibiza ngokuba "ziimpawu zentloko ezicacileyo".

• Iinkophe zihlala zibonakala ngathi zidibene embindini kwaye zigobile zibheke phezulu (oku kubizwa ngokuba yi-`(synophrys)`).
• Iinkophe zinde kakhulu.
• Iindlebe zibekwe phantsi kunesiqhelo.
• Amazinyo mancinci kwaye kukho izithuba ezinkulu phakathi kwawo.
• Impumlo iba ncinci kwaye ijonge phezulu.
• Intloko encinci kuneqhelekileyo (oogqirha bayibiza ngokuba yi-"microcephaly").
• Ukuba nencakuba eqhekekileyo (oku akwenzeki kuwo wonke umntu, kodwa abanye abantu banokukwenza).

Iimpawu zophuhliso lwe-neurodevelopment

• Ukulibaziseka kokukhula. Oko kukuthi, izinto ezifana nokungakhaseli ngexesha lokukhasa, ukungahambi ngexesha lokuhamba.
• Abantu abaninzi banokuba nokukhubazeka kwengqondo okuphakathi ukuya kokukhulu , oko kuthetha ukuba banokuba nokuphazamiseka okuthile kwizinto ezifana nokufunda nokuqonda.

Iimpawu zengqondo

• Banokubonakalisa iindlela zokuziphatha ezifana nezo ze-"(Autism spectrum disorder)" . Umzekelo, basenokungafuni ukunxibelelana nabanye kwaye banokuphinda-phinda izinto ezifanayo ngokuphindaphindiweyo.
• Iimpawu ezifana nezo zesifo esibizwa ngokuba yi -Attention-deficit/hyperactivity disorder (ADHD) .
• Iingxaki zokuxhalaba.

Ezinye iimpawu eziqhelekileyo ezinokubonwa

Ukongeza koku, iCornelia de Lann syndrome inokubangela ezinye iingxaki:

• Ukukhula kancinci ngaphambi nasemva kokuzalwa. Oku kunokubangela ukuba babe bafutshane.
• Ukuphazamiseka okuthile ezandleni, kwiminwe, nasemathanjeni ezandla.
• Ukuba neenwele ezininzi emzimbeni kunesiqhelo (i-hirsutism).
• Ukulahlekelwa kukuva.
• Iingxaki zenkqubo yokugaya ukutya. Umzekelo, i-chronic acid reflux (GERD).
• Izinto ezingaqhelekanga kwizitho zangasese. Ezifana namasende angacacanga kubafana (cryptorchidism).
• Ukuphazamiseka kokubona. Umzekelo, ukubona kufutshane (i-myopia).
• Ukuxhuzula (sikubiza ngokuba yi-'seizures').
• Isifo sentliziyo. Umzekelo, ukuba nomngxuma entliziyweni.

Yintoni ebangela iCornelia de Lan syndrome?

Le meko idla ngokubangelwa lutshintsho oluyingozi (uhlobo lwe-pathogenic) kwenye yezakhi zofuzo ezisixhenxe . Ezi zakhi zofuzo yi-NIPBL, i-SMC1A, i-HDAC8, i-RAD21, i-SMC3, i-BRD4, kunye ne-ANKRD11. Xa zidibene, ezi zakhi zofuzo zinceda into ebizwa ngokuba yi-cohesin complex ukuba isebenze ngokufanelekileyo.

Ngoku usenokuba uyazibuza ukuba yintoni le `(cohesin complex)`. Ngamafutshane, eli liqela leeproteni ezidlala indima ebaluleke kakhulu xa umntwana esakhula esibelekweni.Yile nto ke elawula iijini ezifunekayo ukuze kuphuhliswe amalungu omzimba omntwana, ubuso bakhe, kunye nezinye iindawo zomzimba. Ngoko ke, ukuba kukho utshintsho nakweyiphi na kwezi jini zikhankanyiweyo ngaphambili, ukusebenza kwale `(cohesin complex)` kuya kuphazamiseka. Emva koko, kuya kuphazamisa ukukhula komntwana kwangethuba.

Phakathi kwama-60% nama-80% abantu abane-`(CdLS)` banale meko ngenxa yotshintsho kwi-`NIPBL` gene. Le meko ayinakwenzeka kangako ukuba ibangelwe lutshintsho kwezinye ii-gene ezintandathu. Kwabanye abantu abangama-5% ukuya kuma-20%, imbangela ye-genetic yale meko ayikafunyanwa.

Kwiimeko ezininzi, abantwana abanale meko abanayo imbali yesifo kusapho. Oku kuthetha ukuba sidla ngokubangelwa lutshintsho olutsha lwemfuza (olubizwa ngokuba yi-`de novo mutation`). Nangona kunjalo, ukuba omnye umzali uneempawu ezincinci zale meko, banethuba elingama-50% lokuba nomntwana onale meko. Ngokufanayo, ukuba abazali abasempilweni banomntwana one-`(CdLS)`, umngcipheko wokuba nomnye umntwana onale meko uqikelelwa ukuba uphakathi kwe-1% kunye ne-1.5%.

Ziziphi iingxaki ezinokwenzeka ngenxa yale meko?

Ngenxa yokuba isifo iCornelia de Lann sichaphazela amalungu ahlukeneyo omzimba, iingxaki ezahlukeneyo zinokwenzeka.

Iingxaki zenkqubo yokugaya ukutya

• I-Duodenal atresia: Ukuvaleka kwenxalenye yokuqala yamathumbu amancinci omntwana.
• I-Congenital diaphragmatic hernia: Umngxuma kwi-diaphragm yomntwana (umsipha owahlula isifuba nesisu).
• `(Ukonakala)`: Ukungaqhelekanga kwindlela amathumbu omntwana akhiwa ngayo.
• I-Pyloric stenosis: Ukuncitshiswa komngxuma osuka esiswini somntwana uye emathunjini amancinci.
• I-Inguinal hernia: Inxalenye yamathumbu omntwana ityhala ngesithuba eludongeni lwesisu iye kwindawo yemiphunga.
• Umphimbo kaBarrett: Imeko enokwenzeka ngenxa yeGERD enzima.

Iingxaki ze-genitourinary

• I-Cryptorchidism: Imeko apho amasende omntwana oyinkwenkwe engaphumeleli ukuya kwi-scrotum nokuba ngaphambi kokuzalwa okanye emva nje kokuzalwa.
• `(Hypospadias)`: Kwiintsana ezingamaduna, i-urethra ayivuli kwindawo efanelekileyo kwipenisi.
• `(I-Renal hypoplasia)`: Intso enye okanye zombini zomntwana zincinci kunesiqhelo.

Iingxaki zamehlo

• `(Ptosis)`: Ukungakwazi ukuvula iliso ngokufanelekileyo ngenxa yokuba iliso eliphezulu ligobile liyehla.
• I-Blepharitis: Ukudumba kunye nosulelo lweliso.
• Ukuphazamiseka kokubona: Umzekelo, iimeko ezifana ne-`(astigmatism)` (ukubona okufipheleyo ngenxa yokugoba komaleko wangaphandle weliso).

Ifunyanwa njani iCornelia de Lan's syndrome?

Ugqirha womntwana wakho unokukwazi ukuxilonga le meko emva nje kokuzalwa okanye kungekudala emva kokuzalwa . Ugqirha uza kumxilonga umntwana wakho ngokwasemzimbeni, ahlole iimpawu, aze abuze ngembali yempilo yosapho lwakho.

Nangona kunjalo, iimpawu zomntwanaUkuba incinci kakhulu, kunokuba nzima ukuyifumanisa le meko. Kwiimeko ezinjalo, ugqirha angacela uvavanyo lwemfuza ukuqinisekisa ukuxilongwa.

Kunqabile kakhulu ukuba le meko ifunyanwe ngaphambi kokuba umntwana azalwe. Oku kubizwa ngokuba luvavanyo lwemfuza ngaphambi kokuba umntwana azalwe. Lunokuchonga utshintsho lwemfuza olubangela le meko.

Inyangwa njani iCornelia de Lan's syndrome?

Unyango lwale meko luyahluka kusana nosana, kuxhomekeke kwiimpawu umntwana ngamnye anazo. Ngenxa yokuba le meko ichaphazela amalungu amaninzi omzimba, iqela loogqirha liza kusebenzisana ukucwangcisa unyango. Unyango lungabandakanya:

Isondlo kunye nokondla

• Ukufaka ityhubhu ye-gastrostomy ukuze kubonelelwe ngefomyula eneekhalori eziphezulu kunye/okanye ukutya ukuthintela ukulibaziseka kokukhula komntwana.
• Funa ingcebiso kwingcali yesondlo ukuze uxoxe ngeengxaki zokutya.

Utyando

• Ukungasebenzi kakuhle kwamathambo.
• Iingxaki zenkqubo yokugaya ukutya.
• Isifo sentliziyo.
• Impumlo eqhekekileyo.
• Amasende angathontsi.

Utyando lunokufuneka ukuze kunyangwe izifo ezinje ngezi.

Amayeza

• Amayeza okulwa nokuxhuzula alawula okanye athintele ukuxhuzula (ukuxhuzula).
• Amayeza okudakumba okulawula ukuziphatha okuzenzakalisayo okanye okunobundlobongela.
• Ii-antibiotics zinyanga izifo zokuphefumla.

Ezinye iingxaki zokugaya ukutya kunye nentliziyo nazo zinokunyangwa ngamayeza.

Iindlela zonyango

Olu nyango kufuneka luqhubeke ubomi bonke bomntwana. Iindlela ezahlukeneyo zonyango zingasetyenziswa ukujongana nokulibaziseka kokukhula, ukukhubazeka kwengqondo, kunye neengxaki zokuziphatha kumntwana. Ezi zinokubandakanya:

• Ulungiso lwenyama.
• Unyango lomsebenzi.
• Unyango lokuthetha.
• Unyango lwengqondo.

Ukongeza, kukho imfuneko yovavanyo oluqhubekayo nokubeka iliso kwimisebenzi ethile kunye nokulibaziseka kokukhula komntwana ebomini bakhe bonke. Oku kuquka:

• Uvavanyo lokuva nolokubona.
• Ukukhula kunye nophuhliso lwe-psychomotor (ukusebenza ngendlela umntu acinga ngayo).
• Umsebenzi wentliziyo nezintso.
• Ukusebenza kwenkqubo yokugaya ukutya.

Ezi zifo mazihlale zijongwa ngoogqirha.

Ingakanani iminyaka yobomi bomntu oneCornelia de Lann syndrome?

Ubomi obulindelekileyo kubantu abanale meko buqhelekile.Uninzi lwabantwana abanale meko baphila kakuhle de babe badala. Nangona kunjalo, ukuba umntwana unezinye zeempawu eziqatha zesifo (ingakumbi iingxaki zentliziyo nomqala), oko kunokunciphisa ubomi bakhe kancinci.

Abantu abadala abane-CdLS banokufuna unyango oluqhubekayo ubomi babo bonke. Ukuba iingxaki ziyavela, uqikelelo lwesifo luxhomekeke kubukhali kunye nonyango.

Ngaba le meko ingathintelwa?

Ngenxa yokuba sisifo semfuza, iCornelia de Lann syndrome ayinakuthintelwa. Ukuba uceba ukukhulelwa kwaye ufuna ukwazi umngcipheko wokuba nomntwana onesi sifo, thetha nogqirha wakho malunga neengcebiso zemfuza okanye uvavanyo lwemfuza .

Kuqhelekile ukuba uzive wothukile kwaye udanile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga semfuza. Kodwa khumbula, uninzi lwabantwana abaneCornelia de Lann syndrome baphila ubomi obupheleleyo kwaye bakhula kakuhle bade babe ngabantu abadala.

Nje ukuba imeko yomntwana wakho ifunyaniswe, ugqirha wakho uza kuthetha nawe ngeendlela ezahlukeneyo zonyango. Kusenokufuneka usebenzisane neqela leengcali. Eyona nto ibalulekileyo kukufunda okuninzi kangangoko unako malunga nemeko yomntwana wakho kwaye ukhokele ekuboneleleni ngononophelo olungcono kangangoko.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, masishwankathele ezinye zezona ngongoma zibalulekileyo ekufuneka uzikhumbule kwinto esithethe ngayo:

• I-Cornelia de Lan syndrome (CdLS) yimeko engaqhelekanga yemfuza.
• Oku kunokuchaphazela inkangeleko yomntwana, ukukhula kwakhe, ubukrelekrele bakhe, kunye nokuziphatha kwakhe .
• Iimpawu ziyahluka ukusuka kusana ukuya kolunye ; ezinye azinabungozi, ezinye zinzima.
• Isizathu kukutshintsha kwezakhi zofuzo.
• Unyango luxhomekeke kwiimpawu zomntwana. Iindlela ezahlukeneyo zonyango, kuquka utyando ukuba kuyimfuneko, kunye namayeza zingasetyenziswa.
• Nangona le meko ingenakuthintelwa, iingcebiso ngemfuza zinokukunceda ufunde ngomngcipheko wakho.
• Ukuchongwa kwangethuba, unyango olufanelekileyo, kunye nenkathalo yothando kunokunceda aba bantwana baphile ubomi obunenjongo.

Ukuba uneminye imibuzo okanye iinkxalabo malunga noku, qiniseka ukuba uthetha nogqirha wakho wosapho okanye ugqirha wabantwana. Baza kukunika ulwalathiso olufunayo.

Isifo seCornelia de Lanne, i-CdLS, izifo zemfuza, impilo yomntwana, ukulibaziseka kokukhula, iimpawu zomzimba, izifo ezingaqhelekanga