Ingaba umntwana wakho unazo ezi mpawu? Masithethe ngeJacobsen Syndrome

Ngaba ukhe waphawula naluphi na utshintsho okanye iingxaki ekukhuleni okanye ekubonakaleni kobuso bomntwana wakho? Ngamanye amaxesha, imeko engaqhelekanga efana neJacobsen Syndrome inokuba yimbangela yoku. Ungakhathazeki, siza kugcina yonke into ilula.

Yintoni iJacobsen Syndrome?

Ngamafutshane, iJacobsen Syndrome sisifo esingaqhelekanga esinxulumene neechromosomes emzimbeni wethu. Iigenes zethu zifumaneka kwezi chromosomes. Kule meko, iigenes ezininzi azikho okanye zicinyiwe kwinxalenye yechromosome yethu 11. Ukuchaneka, ezi genes azikho kwisiphelo sengalo ende (ingalo ye-q) yale chromosome. Yiyo loo nto ikwabizwa ngokuba yi-11q terminal deletion disorder.

Khawucinge nje, ukuba iqhekeza elincinci le-chromosome 11 alikho, inani lee-genes ezichaphazelekayo nalo liyancitshiswa. Emva koko iimpawu zinokuncipha kancinci. Kodwa ukuba inxalenye enkulu ayikho, iimpawu ziba nzima ngakumbi. Xa abanye abantu benenxalenye encinci elahlekileyo ngale ndlela, ibizwa ngokuba yi-partial Jacobsen syndrome okanye i-partial monosomy 11q. I-Monosomy kuxa inxalenye yesibini se-chromosome ingekho.

Abantwana abaneJacobsen Syndrome banengxaki yokulibaziseka kokukhula , iingxaki zokuziphatha , kunye neempawu zobuso ezahlukileyo . Abantwana abaninzi bakwanazo neziphene zentliziyo abazalwa nazo. Bakwanamathuba amaninzi okuba nesifo sokopha esibizwa ngokuba yiParis-Trousseau syndrome.

Okwangoku akukho nyango lupheleleyo loku, kwaye ixesha lokusinda liyahluka ukusuka kumntu ukuya komnye.

Zithini iimpawu zeJacobsen Syndrome?

Iimpawu zeJacobsen Syndrome ziyahluka ngokuxhomekeke kubukhulu nendawo apho kucinywe khona. Abantu abaninzi bafumana ukulibaziseka ekuphuhlisweni kwezakhono zokuthetha nezentshukumo zomzimba . Basenokuba nokuphazamiseka kwengqondo kunye nezinye iingxaki zokufunda .

Abantwana abaninzi abaneJacobsen Syndrome nabo baneengxaki zokuziphatha . Umzekelo, ukuziphatha okunyanzelekileyo kunye nokuphelelwa yingqwalasela. Abantwana abaninzi bafunyanwa benemeko ebizwa ngokuba yi -Attention-Deficit/Hyperactivity Disorder (ADHD) . Le meko ikwanxulunyaniswa nomngcipheko okhulayo wokufumana i-Autism Spectrum Disorders .

Iimpawu ezithile zobuso

Abantwana abaneJacobsen Syndrome baneempawu ezahlukeneyo zobuso. Ezi ziquka:

• Ukuba nentloko enkulu - i-macrocephaly
• Ibunzi elitsolo ngenxa yokungaqheleki kwentloko (i-trigonocephaly)
• Iindlebe ezincinci, ezisezantsi
• Amehlo akude kakhulu - i-hypertelorism
• Iinkophe ezigobileyo - i-ptosis
• Ubukho bolusu olugobileyo kwikona engaphakathi yeliso - ii-epicanthal folds
• Ibhulorho ebanzi yempumlo
• Iikona zomlomo ezijika zijonge ezantsi
• Umlebe ongaphezulu obhityileyo
• I-undercut encinci

Ezinye iimpawu

Ezinye iimpawu ezininzi zinokubonwa:

• Iziphene zentliziyo ezizalwa nazo
• Ubunzima bokutya
• Ukulibaziseka kokukhula ngaphambi nasemva kokuzalwa
• Ubude obufutshane
• Usulelo oluqhelekileyo lwe-sinus kunye nendlebe
• Ukungaqheleki kwenkqubo yokugaya ukutya, izintso, kunye namalungu esini

Abantu abaninzi abaneJacobsen Syndrome banesifo sokopha esibizwa ngokuba yiParis-Trousseau syndrome . Oku kuchaphazela iiplatelets zomntwana wakho. Iiplatelets luhlobo lweeseli ezinceda ukujiya kwegazi. NgeParis-Trousseau syndrome, umntwana usengozini yokopha okungaqhelekanga ubomi bakhe bonke, kwaye unokukrweleka lula.

Zithini izizathu zeJacobsen Syndrome?

I-Jacobsen Syndrome sisifo se-chromosome . Njengoko usazi, ii-chromosomes zizinto eziqulethe ulwazi lwethu lwe-genetic (ii-genes). Ezi genes zimisela indlela umzimba wethu omele uphuhlise kwaye usebenze ngayo. Ngokwesiqhelo, kukho ii-chromosomes ezingama-22 ezinamanani emzimbeni womntu, kunye ne-chromosomes enye yesini. I-chromosome nganye inengalo emfutshane (ingalo ye-p) kunye nengalo ende (ingalo ye-q).

Kwabanye abantu, ii-genes ezininzi ezisekupheleni kwengalo ende (q) ye-chromosome 11 ziyacinywa. Esinye isiqingatha se-chromosome 11 sihlala singabi nanto. Le yimbangela yeJacobsen Syndrome. Okukhona ubukhulu bokususwa bubukhulu, kokukhona iimpawu zisiba nzima. Ngokuxhomekeke kubukhulu bokususwa, le ndawo inokuba nee-genes ukusuka kwi-170 ukuya kwi-340. Ii-genes ezikule ndawo zinoxanduva lophuhliso olufanelekileyo lwentliziyo yethu, ingqondo, kunye neempawu zobuso.

Ingaba oku kukulawula okanye kukwenza izinto ngendlela egqithisileyo?

Ukulawula okanye ukuphinda-phinda kubhekisa kwindlela ofumana ngayo ii-genes zakho kubazali bakho.

Kodwa,Kwiimeko ezininzi, iJacobsen Syndrome ayilofuzo. Oko kukuthi, ayizuzwa kubazali. Idla ngokubangelwa yimpazamo eyenzeka ngokungacwangciswanga kulwahlulo lweeseli ngexesha lokukhula kwe-embryonic, nto leyo ebangela ukulahleka kwenxalenye ye-chromosome. Akukho nto abazali abanokuyenza ukuyithintela, kwaye akukho nto banokuyenza ukuyithintela. Abantu abaneJacobsen Syndrome badla ngokuba abanayo imbali yosapho yale meko. Nangona kunjalo, banokudlulisela esi sifo kubantwana babo.

Kunqabile kakhulu ukuba abantu abaneJacobsen Syndrome bazuze esi sifo kumzali ongenazo iimpawu. Oku kwenzeka xa umzali enesiganeko esintsonkothileyo semfuza esibizwa ngokuba yi-balanced translocation . Ngamafutshane, inxalenye ye-chromosome 11 kunye nenxalenye yesinye i-chromosome swap itshintshana. Oku akunciphisi izinto zemfuza, ngoko ke abazali ababonisi zimpawu. Nangona kunjalo, xa ezi chromosomes zidluliselwa kwabanye, abantwana banokuba nokungalingani.

Zithini izinto ezibangela umngcipheko?

I-Jacobsen Syndrome yimeko yemfuza enokuchaphazela nabani na. Olunye uphando lufumanise ukuba ichaphazela amantombazana rhoqo kancinci.

Oogqirha bayixilonga njani le nto?

Ugqirha wakho unokukwazi ukufumanisa iJacobsen Syndrome ngexesha lokukhulelwa kwakho. Ukuba iiskeni ze-ultrasound zangaphambi kokukhulelwa ziphakamisa naziphi na iinkxalabo, ugqirha wakho unokucebisa uvavanyo olongezelelweyo. Uvavanyo oluqhelekileyo lokuhlolwa kwemfuza yangaphambi kokukhulelwa luquka:

• Uvavanyo lokubeleka olungenalo utyando (i-NIPT): Oku kuquka ukuthatha i-DNA yomntwana wakho kwisampulu yegazi lakho kunye nokujonga naziphi na iingxaki kwinani lee-chromosomes.
• Isampuli ye-Chorionic villus (CVS): Ugqirha usebenzisa inaliti ukuthatha isampuli yeeseli kwi-placenta.
• I-Amniocentesis: Ugqirha usebenzisa inaliti ukuthatha isampuli yolwelo lwe-amniotic esibelekweni.

Emva kokuba umntwana ezelwe, ugqirha womntwana unokuxilonga iJacobsen Syndrome ngokwenza uvavanyo lwemfuza . Kolu vavanyo lwemfuza, ugqirha uthatha isampuli yegazi lomntwana aze ayijonge phantsi kwe-microscope. Bafaka amabala kwii-chromosomes ezikwisampulu, ezibonakala ngathi yibhakhowudi. Oku kunokukhangela ii-chromosomes eziphukileyo, ii-genes ezingekhoyo. Ngokwesiqhelo, inxalenye ephukileyo ikwi-chromosome 11. Nangona kunjalo, kufuneka uvavanyo olongezelelekileyo lwemfuza ukuze kufunyanwe indawo echanekileyo yokuqhekeka.

Olunye uvavanyo yiMicroarray Comparative Genomic Hybridization (Array CGH).Ngamanye amaxesha utshintsho oluncinci kakhulu kwiichromosomes, ezincinci kakhulu ukuba zingabonwa ngemicroscope, lunokubangela iJacobsen Syndrome. Kulapho oogqirha benza khona olu vavanyo lwe-Array CGH. Oku kubonisa utshintsho oluncinci kakhulu kwiDNA kuzo zonke iichromosomes zomntwana. Kungafumanisa ukuba iDNA iphindaphindwe, iphazamisekile, okanye ayikho.

Iphathwa njani iJacobsen Syndrome?

Akukho nyango lweJacobsen Syndrome. Unyango lugxile kakhulu kwezi zinto zilandelayo:

• Ukulawula iimpawu zomntwana wakho
• Ukumnceda afikelele kwimigangatho yakhe yophuhliso
• Ukuphepha iingxaki zempilo

Kwiintsana ezinengxaki yokutya, oogqirha banokucebisa ityhubhu ye-gastrostomy (ityhubhu ye-G) . Le tyhubhu ifakwa ngqo esiswini somntwana ukuze ihambise ukutya. Utyando olubizwa ngokuba yi -fundoplication lunokulungisa ingxaki yevalvu esezantsi kwe-esophagus.

Umntwana wakho usenokufuna olunye utyando. Umzekelo, utyando lokulungisa iingxaki zentloko, ezifana ne -trigonocephaly . Utyando lunokufuneka ukuze kulungiswe iingxaki zokubona okanye zamehlo. Utyando lunokufuneka ukuze kulungiswe amathambo, intliziyo, kunye nezinye iziphene.

Ugqirha womntwana wakho unokumnika amayeza athile okunceda ekuthinteleni iingxaki ezithile zentliziyo. Umzekelo, amayeza okunciphisa ukubetha kwentliziyo . La ngamayeza anceda ekuthinteleni okanye ekulungiseni izingqisho zentliziyo ezingaqhelekanga. Anokumnika amayeza okukhupha ulwelo . La ngamayeza anceda ekususeni amanzi agqithisileyo emzimbeni.

Oogqirha banokucebisa ukuba basebenzise iiglasi zokulungisa amehlo, iilensi zoqhagamshelwano, okanye utyando lokulungisa iingxaki zamehlo.

Oogqirha banokunika igazi okanye utofelo-gazi lwe-platelet ukunyanga iziphumo ze -Paris-Trousseau syndrome . Banokukunika neyeza elibizwa ngokuba yi-desmopressin , elinceda ukujiya kwegazi lakho.

Umntwana wakho ngokuqinisekileyo uza kufikelela kwinqanaba lakhe lokukhula ngaxa lithile. Nangona kunjalo, ukungenelela kwangoko kunokumnceda afikelele kwinqanaba lakhe elipheleleyo. Ugqirha womntwana wakho unokucebisa oku kulandelayo:

• Imfundo ekhethekileyo yonyango
• Ulungiso lwenyama
• Unyango lokuthetha

Yintoni endinokuyilindela ukuba umntwana wam uneJacobsen Syndrome?

Ubomi obulindelekileyo kubantu abaneJacobsen Syndrome buyahluka ngokuxhomekeke kubukhali beempawu zabo. Ngenxa yeengxaki zentliziyo ezinzima kunye neengxaki zokujiya kwegazi, malunga nama-20% eentsana ezineJacobsen Syndrome ziyafa ngaphambi kokuba zibe neminyaka emi-2 ubudala.

Nangona kunjalo, abantwana abaninzi abaneJacobsen Syndrome baye baphila ubomi babo bade baba ngabantu abadala. Abantu abadala abanale meko banokuphila ubomi obonwabisayo nobanelisayo benokuzimela ngokwamanqanaba ahlukeneyo.

Ngaba iJacobsen Syndrome ingathintelwa?

Ngenxa yokuba yimeko yemfuza, iJacobsen Syndrome ayinakuthintelwa. Ukuba ukhulelwe okanye uceba ukukhulelwa, buza ugqirha wakho malunga neengcebiso zemfuza . Umcebisi wemfuza angakunceda uqonde umngcipheko wokuba nomntwana oneJacobsen Syndrome.

Ukufumanisa ukuba umntwana wakho uneJacobsen Syndrome kunokuba yinto eyoyikisayo. Musa ukoyika, kodwa zinike ixesha lokufunda kangangoko unako malunga nokuxilongwa komntwana wakho. Ukuba kunokwenzeka, zama ukufumana ugqirha oqonda imeko yomntwana wakho. Anganika umntwana wakho iindlela zonyango ezilungileyo.

Ukuze ukwazi ukumelana nokuxilongwa komntwana wakho, jonga amaqela enkxaso . Abanye abaye bakwimeko efanayo nawe banokukunika ulwazi namandla owadingayo ukuze uncede umntwana wakho.

Umyalezo Wokuya Ekhaya

I-Jacobsen Syndrome yimeko engaqhelekanga nenokuba nzima, kodwa khumbula, awuwedwa.

• Oku kubangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga , kungekhona ityala labazali.
• Ukuchongwa kwangethuba kunye nokungenelela kubaluleke kakhulu ukuphucula umgangatho wobomi bomntwana.
• Funa uncedo koogqirha abaziingcali, abagqirha bezonyango, kunye nabacebisi .
• Amandla namava afunyenwe kumaqela enkxaso kunye nabanye abazali axabiseke kakhulu.
• Wonke umntwana wahlukile. Mphathe ngothando nangomonde umntwana wakho ngokwezakhono neemfuno zakhe.

Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha wakho.

I- Jacobsen Syndrome, ukungaqheleki kwe-chromosome, i-chromosome 11, isifo se-genetic, ukulibaziseka kophuhliso, i-Paris-Trousseau syndrome, isiphene sentliziyo sokuzalwa, ingcebiso ye-genetic