Ubukhona be-Noonan Syndrome? Izimpawu, Izimbangela, Nokwelashwa

I-Noonan syndrome iyisimo se-genetic esithinta indlela umzimba wakho ophakama ngayo ngaphambi nangemva kokuzalwa. Kwenzeka lapho kunenguquko kwenye ye-genes yakho esiza ukulawula ukukhula kwamaselula nokukhula.

Lesi simo siqopha izingxenye eziningi zomzimba, kusukela ezimpawu zobuso kuya esakhiweni senhliziyo kuya emathaleni okukhula. Nakuba ithonya wonke umuntu ngokwahlukile, abantu abaningi abane-Noonan syndrome bangaphila impilo egcwele, enempilo ngokunakekelwa okufanele kwezokwelapha nokusekelwa.

Iyini i-Noonan syndrome?

I-Noonan syndrome iyisifo se-genetic ozalwa naso. Lithinta cishe umuntu omunye ku-1,000 kuya komunye ku-2,500 emhlabeni jikelele, okwenza kube ngelinye lamasimo e-genetic avamile.

Lesi simo silithola igama likaDkt. Jacqueline Noonan, owachaza okokuqala iphethini yezimpawu ngo-1963. Okwenza lesi simo sibe yisikhethekile yindlela esingathinta ngayo izinhlelo eziningi zomzimba ngesikhathi esisodwa, nakuba ububi buhluka kakhulu kumuntu ngamunye.

Abanye abantu banezimpawu ezilula kakhulu ezingase zingaphawulwa kuze kube yilapho sekukhulu. Abanye bangaba nezici ezibonakalayo kakhulu nezinselele zempilo ezidinga ukunakekelwa okuqhubekayo kwezokwelapha kulo lonke impilo yabo.

Ziyini izimpawu ze-Noonan syndrome?

Izimpawu ze-Noonan syndrome zingase zihluke kakhulu, ngisho nasemhlabeni omnye. Ezinye izici zivame kakhulu kunabanye, futhi akuwona wonke umuntu ozoba nazo zonke izimpawu ezingaba khona.

Nazi izimpawu ezivamile ongaziqaphela:

• Izici zobuso ezihlukile njengeziso eziqhelelene kakhulu, izindlebe eziphansi, noma ibunzi elikhulu
• Ukufushane noma ukukhula okuhamba kancane kunokulindelekile
• Izinkinga zenhliziyo, ikakhulukazi ngesakhiwo senhliziyo noma i-rhythm
• Ukwahluka kwesakhiwo sesifuba, njengomqondo ohlangene noma i-breastbone ephumayo
• Ukulibaziseka ekufinyeleleni izigaba ezibalulekile njengokuhamba noma ukukhuluma
• Ubunzima bokufunda, nakuba ukuhlakanipha kuvame ukuba okuvamile
• Ukopha noma izinkinga zokukhula kwamabala
• Ukungasebenzi kahle kwesibindi noma kwezinye izitho

Izici zobuso zivame ukuba zithambile ngokukhula. Abantwana abaningi abane-Noonan syndrome bathuthukisa izici ezisiza odokotela ukuthi baqaphele lesi simo, kodwa lezi zici zingase zingabonakali kakhulu kubantu abadala.

Abanye abantu nabo baye baba nezimpawu ezingavamile. Lokhu kungase kuhlanganise ukulahlekelwa ukuzwa, izinkinga zobuso, noma izinkinga zokukhipha i-lymphatic okungabangela ukukhula. Nakuba lezi zinkinga zingavamile, kubalulekile ukuqapha nokuxoxa neqembu lakho lokunakekelwa kwezempilo.

Yini ebangela i-Noonan syndrome?

I-Noonan syndrome iyenzeka ngenxa yenguquko kuma-genes athile alawula indlela amaseli akho akhula futhi athuthukiswe ngayo. La ma-genes afana nemiyalo eyalela umzimba wakho ukuthi wakheke kahle.

I-gene evamile ehlobene ibizwa nge-PTPN11, ehambisana cishe nezingxenye ezingama-50% zazo zonke izimo. Amanye ama-genes angabangela i-Noonan syndrome ahlanganisa i-SOS1, i-RAF1, i-KRAS, nezinye eziningi ososayensi abazitholile muva nje.

Ungadlulisela i-Noonan syndrome kumzali onalesi simo, kodwa lokhu kwenzeka kuphela cishe ingxenye yesikhathi. Kwesinye isiqingatha sezimo, inguquko ye-genetic iyenzeka okokuqala kulowo muntu, okusho ukuthi akukho mzali onalesi simo.

Uma umzali enesifo se-Noonan syndrome, kunethuba elingu-50% lokudlulisela kumntwana ngamunye. Lokhu kubizwa ngokuthi i-autosomal dominant inheritance, okusho ukuthi udinga ikhophi eyodwa kuphela ye-gene eguqukile ukuze ube nalesi simo.

Nini okufanele ubona udokotela nge-Noonan syndrome?

Kufanele ucabangele ukukhuluma nodokotela uma uqaphela izici eziningi ezingase ziphakamise i-Noonan syndrome. Ukuqaphela kwasekuqaleni kungasiza ukuqinisekisa ukunakekelwa okufanele kwezokwelapha nokusekelwa.

Ezinganeni ezincane nasezinganeni ezincane, qaphela izimpawu ezifana nezici zobuso ezingavamile ezihlangene nobunzima bokudla, ukukhula okuhamba kancane, noma i-heart murmurs. Ukulibaziseka ekufinyeleleni izigaba ezibalulekile njengokuhlala phansi, ukuhamba, noma ukukhuluma nakho kufanele kuxoxwe nodokotela wakho wezingane.

Kubantwana abadala nabantu abadala, ukufushane okuqhubekayo, ubunzima bokufunda, noma izinkinga zokopha ezingachazwanga kungase kudinge ukulinganiswa. Ukuphephema kwenhliziyo, ubuhlungu besifuba, noma ukukhathala okungavamile kungase kubonise izinkinga zenhliziyo ezidinga ukunakekelwa.

Uma unomlando womndeni we-Noonan syndrome futhi uhlela ukukhulelwa, ukwelulekwa kwe-genetic kungakusiza ukuqonda ingozi nezindlela ezikhona kuwe.

Ziyini izici ezingozi ze-Noonan syndrome?

Isici esiyinhloko esingozi se-Noonan syndrome ukuba nomzali onalesi simo. Njengoba kulandela iphethini ye-autosomal dominant, umntwana ngamunye unethuba elingu-50% lokuzuza inguquko ye-genetic.

Ubudala obukhulu babazali bungase bukhulisa kancane ingozi yenguquko entsha ye-genetic eyenzeka, kodwa i-Noonan syndrome ingenzeka emindenini yanoma yiliphi iminyaka. Lesi simo sithinta amadoda nabesifazane ngokulinganayo futhi senzeka kuwo wonke amaqembu ezizwe.

Uma unezinye izilwane zomndeni ezinokulibaziseka kokuthuthuka okungachazwanga, izinkinga zenhliziyo, noma izici zobuso ezihlukile, lokhu kungase kuphakamise amathuba aphezulu ezimo ze-genetic emgqeni womndeni wakho.

Ziyini izinkinga ezingaba khona ze-Noonan syndrome?

Nakuba abantu abaningi abane-Noonan syndrome baphila impilo enempilo, ezinye izinkinga zingase zenzeke ezidinga ukunakekelwa kwezokwelapha. Ukuqonda lezi zinto ezingaba khona kukusiza uhlale ulungile futhi ufuna ukunakekelwa uma kudingeka.

Izinkinga zenhliziyo ziphakathi kwezinkinga ezingaba khona ezinkulu kakhulu. Lokhu kungase kuhlanganise ukungasebenzi kahle kwesakhiwo njenge-pulmonary valve stenosis, okwenza inhliziyo isebenze nzima ukuthumela igazi emaphashini. Abanye abantu bathuthukisa i-hypertrophic cardiomyopathy, lapho imisipha yenhliziyo iba khulu kunokujwayelekile.

Izinselele zokukhula nokukhula zingathinta kokubili ukuthuthuka komzimba nokucatshangelwa. Ukufushane kuyinto evamile, futhi ezinye izingane ziyazuza ekwelashweni kwe-growth hormone. Ubunzima bokufunda, nakuba kuvame ukuba buthambile, kungase kudinge ukusekelwa kwezemfundo.

Izinkinga zegazi ne-lymphatic zingabangela izinkinga futhi. Abanye abantu banezifo zokopha ezenza baphuze kalula noma baqhubeke bekhona isikhathi eside ngemva kokulimaza. Izinkinga ze-lymphatic zingabangela ukukhula ezingxenyeni ezahlukene zomzimba.

Izinkinga ezingavamile kodwa ezibalulekile zihlanganisa izinkinga zesibindi, ukulahlekelwa ukuzwa, izinkinga zobuso, nokungahambi kahle kwama-bone. Nakuba lokhu kuzwakala kukhathaza, khumbula ukuthi akuwona wonke umuntu ophila izinkinga, futhi eziningi ezwenzeka zingaphathwa ngokuphumelelayo ngokunakekelwa okufanele kwezokwelapha.

I-Noonan syndrome ihlonishwa kanjani?

Ukuhlonishwa kwe-Noonan syndrome kuhilela ukubuka izici zomzimba, umlando wezokwelapha, nokuhlolwa kwe-genetic. Ayikho i-test eyodwa engakwazi ukuhlonishwa ngokuqinisekile lesi simo, ngakho odokotela basebenzisa ukuhlanganiswa kwezindlela.

Udokotela wakho uzoqala ngokuhlola izici zomzimba nokubuza ngezimpawu. Bazobheka izici zobuso ezihlukile, bahlole izinkinga zenhliziyo, futhi bahlole amaphethini okukhula. Umlando omningi womndeni uqondisa ukuthi lesi simo singase siqhubeke emndenini wakho.

Ukuhlolwa kwe-genetic kungakuqinisekisa ukuhlonishwa ngokuthola izinguquko kuma-genes aziwa ngokubangela i-Noonan syndrome. Noma kunjalo, ukuhlolwa kwamanje kungakwazi kuphela ukubona imbangela ye-genetic cishe ku-70-80% yabantu abanesimo, okusho ukuthi abanye abantu bane-Noonan syndrome ngisho nemiphumela yokuhlolwa kwe-genetic evamile.

Ukuhlolwa okwengeziwe kungase kuhlanganise ukuhlolwa kwenhliziyo njenge-echocardiograms, ukuhlolwa kokukhula, ukuhlolwa kwegazi ukuhlola izifo zokopha, kanye nokuhlolwa kokuthuthuka ukuhlola amakhono okufunda nokukhuthaza.

Iyini impilo ye-Noonan syndrome?

Ukwelashwa kwe-Noonan syndrome kugxile ekuphatheni izimpawu ezithile nokuvimbela izinkinga. Njengoba lesi simo sithinta abantu ngokwahlukile, uhlelo lwakho lokwelashwa luzolungiswa ngezidingo zakho zomuntu siqu.

Izinkinga zenhliziyo zivame ukudinga ukunakekelwa okusheshayo kakhulu. Kuye ngenkinga ethile, ukwelashwa kungase kuhlanganise imithi, ukulungiswa kokusebenza kwezinkinga zesakhiwo, noma ukulandelela okuqhubekayo nodokotela we-cardiologist. Izinkinga eziningi zenhliziyo ezihlobene ne-Noonan syndrome zingaphathwa ngempumelelo.

Ukwelashwa kwe-growth hormone kungasiza izingane ezifushane kakhulu kunokulindelekile. Lokhu kwelashwa kuhilela ukugonywa okuqhubekayo futhi kudinga ukulandelela okuqhubekayo ngudokotela we-endocrinologist. Akuwona wonke umntwana onayo i-Noonan syndrome odinga i-growth hormone, kodwa ingaba usizo kakhulu kulabo abayidingayo.

Ukusekelwa kwezemfundo kuqondisa ubunzima bokufunda uma kwenzeka. Lokhu kungase kuhlanganise ukwelashwa kokukhuluma, ukwelashwa kokusebenza, noma izinsizakalo zemfundo ekhethekile. Abantwana abaningi abane-Noonan syndrome banokuhlakanipha okuvamile futhi bangaphumelela ngokufunda ngokusekelwa okufanele.

Ezinye izindlela zokwelapha ziyahluka kuye ngokuthi yiziphi izimpawu ezikhona. Izinkinga zokopha zingase zidinga imithi noma izinyathelo zokuqapha ngesikhathi sokusebenza. Izinkinga zokuzwa noma zobuso zidinga ukulinganiswa ochwepheshe. Ukwelashwa komzimba kungasiza ngobunqamuzana bemisipha noma izinkinga zokuxhumanisa.

Indlela yokuphatha i-Noonan syndrome ekhaya?

Ukuphatha i-Noonan syndrome ekhaya kuhilela ukuhlala uqaphile ngokunakekelwa kwezokwelapha nokusekela impilo yakho jikelele nokukhula. Ukudala umkhuba oqondisa izidingo zakho ezithile kwenza impilo yansuku zonke ibe lula.

Gcina amarekhodi anemininingwane yemihlangano yezokwelapha, imiphumela yokuhlolwa, kanye nemithi. Lolu lwazi luya kubaluleka lapho ubona odokotela abasha noma ngesikhathi sezimo eziphuthumayo. Imindeni eminingi ikuthola kuwusizo ukugcina isifinyezo sezokwelapha abangabelana ngaso kalula nabaphathi bezempilo.

Gxilisa ukunakekelwa ekudleni nokuzivocavoca okufanele isimo sakho. Abanye abantu abane-Noonan syndrome banezinkinga zokudla noma izidingo ezithile zokudla. Sebenza neqembu lakho lokunakekelwa kwezempilo ukwakha amasu okudla asekelayo ukukhula okunempilo nokukhula.

Hlala uqaphile izimpawu ezingase zidinga ukunakekelwa kwezokwelapha, njengokukhathala okungavamile, ubuhlungu besifuba, ukukhula kwamabala okukhulu, noma ukukhathazeka okusha kokuthuthuka. Ukuba neqembu lokuxhumana nodockotela bakho kukusiza uphendule ngokushesha ezinkingeni ezingaba khona.

Xhumana namaqembu okusekela nezinsizakalo zemindeni ethintekile yi-Noonan syndrome. Ukubambisana nabanye abaqonda lesi simo kungakunika izixwayiso ezibalulekile nezinsizakalo zokusekela.

Kufanele ulungiselele kanjani umhlangano wakho nodokotela?

Ukulungiselela imihlangano yezokwelapha kukusiza ukwenza okuningi ngesikhathi sakho nabaphathi bezempilo. Ukulungiselela okuhle kuqinisekisa ukuthi izihloko ezibalulekile zixoxwa futhi imibuzo iphendulwe.

Bhala zonke izimpawu zakho noma ukukhathazeka ngaphambi komhlangano, kufaka phakathi ukuthi zaqala nini nokuthi zithinta kanjani imisebenzi yansuku zonke. Letha uhlu lwemithi, izithasiselo, kanye nokwelashwa okusebenzisayo.

Butha amarekhodi ezempilo afanele, ikakhulukazi uma ubona udokotela omusha. Faka imiphumela yokuhlolwa yangaphambili, imibiko yokusebenza, kanye nezinqamuzana ezivela kweminye ochwepheshe. Izithombe ezibonisa izinguquko ngokuhamba kwesikhathi zingaba usizo kakhulu ezimweni ze-genetic.

Lungisa imibuzo mayelana nesimo sakho, izinketho zokwelapha, nokuthi yini okulindelekile kuya phambili. Buza ngokuguqulwa kwesitayela sokuphila okungasiza nokuthi nini kufanele uhlele imihlangano yokulandelela.

Yini eyinhloko mayelana ne-Noonan syndrome?

I-Noonan syndrome iyisimo se-genetic esilawuleka esithinta umuntu ngamunye ngokwahlukile. Nakuba ingase ihilele izinhlelo eziningi zomzimba, abantu abaningi abane-Noonan syndrome bangaphila impilo egcwele, ezuzisayo ngokunakekelwa okufanele kwezokwelapha nokusekelwa.

Ukuhlonishwa kwasekuqaleni nokukhathalelwa kwezokwelapha okuhlangene kwenza umehluko omkhulu emiphumeleni. Ukusebenza neqembu lochwepheshe oluqonda lesi simo kusiza ukuxazulula izimpawu ezithile njengoba zivela futhi kuvimbela izinkinga uma kungenzeka.

Khumbula ukuthi ukuba ne-Noonan syndrome akuchazi imingcele yakho. Abantu abaningi abanesimo bapumelela esikoleni, emisebenzini, ebuhlotsheni, nakuzo zonke izingxenye zokuphila. Ikhona ukufumana ukusekelwa okufanele nokuba nokuqapha mayelana nezidingo zakho zokunakekelwa kwezempilo.

Imibuzo evamile mayelana ne-Noonan syndrome

M1: Ingakwelashwa yini i-Noonan syndrome?

Okwamanje, ayikho impilo ye-Noonan syndrome njengoba ibangelwa yinguquko ye-genetic ekhona kusukela ekuzalweni. Noma kunjalo, izimpawu eziningi nezinkinga zingaphathwa ngokuphumelelayo noma ziphathwe. Ngokunakekelwa okufanele kwezokwelapha, abantu abaningi abane-Noonan syndrome baphila impilo enempilo, evamile futhi bangabamba iqhaza ngokugcwele esikoleni, emsebenzini, nasempilweni yomndeni.

M2: Ingabe umntwana wami onayo i-Noonan syndrome uzobe ekwazi ukuba nezingane?

Abantu abaningi abane-Noonan syndrome bangaba nezingane, nakuba abanye bangaba nezinselele zokuzala. Amadoda angase abe ne-testicles engaphumi noma ezinye izinkinga zokuzala ezingaphathwa. Abesifazane bavame ukuba nokuzala okuvamile. Njengoba i-Noonan syndrome ingadluliselwa, ukwelulekwa kwe-genetic kungasiza imindeni ukuqonda amathuba angu-50% okudlulisela lesi simo kumntwana ngamunye.

M3: I-Noonan syndrome iyithinta kanjani ukuhlakanipha nokufunda?

Abantu abaningi abane-Noonan syndrome banokuhlakanipha okuvamile, nakuba abanye bangaba nobunzima bokufunda. Izinselele ezivamile zihlanganisa izinkinga zokuqaphela, ukuthuthukiswa kolwimi, noma amakhono okuqondisa. Lezi zinkinga zivame ukuba zithambile futhi zingaxazululwa ngokusekelwa okufanele kwezemfundo, izinsizakalo zokwelashwa, kanye nokulungiswa ezindaweni zesikole.

M4: Ingabe kukhona izinhlobo ezahlukene noma amazinga obubi be-Noonan syndrome?

Nakuba i-Noonan syndrome ingagciniwe ngokusemthethweni ezahlukene, ububi buhluka kakhulu phakathi kwabantu. Abanye abantu banezici ezilula kakhulu ezingase zingabonakali kuze kube yilapho sekukhulu, kanti abanye banezimpawu ezinkulu ezidinga ukunakekelwa okuqhubekayo kwezokwelapha. I-gene ethile ehilelekile ingase ithonye izimpawu ezivame ukwenzeka, kodwa ayikuqondi ububi.

M5: Ziyini izinhlobo zezinkinga zenhliziyo ezihlobene ne-Noonan syndrome?

Cishe i-80% yabantu abane-Noonan syndrome banehlobo elithile lokungahambi kahle kwenhliziyo. Okuvamile yi-pulmonary valve stenosis, lapho i-valve phakathi kwenhliziyo namaphashini icindezelwe. Ezinye izinto ezingaba khona zihlanganisa i-hypertrophic cardiomyopathy, lapho imisipha yenhliziyo iba khulu, noma izinkinga zesakhiwo njenge-septal defects. Izinkinga eziningi zenhliziyo zingaphathwa ngempumelelo ngemithi noma ukusebenza uma kudingeka.