I-Noonan syndrome yisimo esibangela ukubonakala komzimba kanye nezinguquko zomzimba ezithinta umsebenzi womzimba ngezindlela eziningana. Ikhethwe njengezifo ezingavamile, kulinganiselwa ukuthi lesi simo sithinta cishe 1 kwabangu-1000 kuya ku-2500 abantu. I-Noonan Syndrome ayihlotshaniswa nanoma yisiphi isifunda noma indawo yobuzwe ethile.
Nakuba i-Noonan syndrome ayisongeli impilo, uma unesifo ongase uhlangabezane nezifo ezihambisanayo, kuhlanganise nesifo senhliziyo, ukuphazamiseka kwegazi kanye nezinye izinhlobo zomdlavuza ngesikhathi esithile sokuphila kwakho. Lezi zinkinga zempilo ezihambisanayo zilindeleke ngokuhlangana ne-Noonan syndrome Umphumela wakho uzoba ngcono uma uhlela ukuvakashelwa kwezokwelapha ukuhlola impilo yakho futhi uthole ukwelashwa okufika ngesikhathi kunoma yiziphi izinkinga zezokwelapha eziphakama ngaphambi kokuba ziqhubeke zibangele imiphumela embi.
Ukukhomba
Ukubona i-Noonan syndrome kusekelwe ekuboneni ukubonakaliswa okumbalwa okuhambisanayo. Kukhona ububanzi obunzima bokugula, futhi abanye abantu bangase babe nezici ezibonakalayo ezibonakalayo noma umthelela omkhulu wezempilo kunabanye.
Uma usuvele wazi ukuthi unamalungu omndeni atholakale enesifo se-Noonan, lokhu kungenzeka ukuthi kukushukumise ukuba ubone izimpawu ezibonisa ukuthi wena noma ingane yakho ingathinteka.
Udokotela wakho kungenzeka ukuthi wazi ukuthi inhlanganisela yezici zomzimba, izimpawu nezici zezempilo zalesi sifo. Isinyathelo esilandelayo ngemuva kokuthola izimpawu zesimo ukuqhubeka nokuphenyisisa ukuthi ngabe wena noma ingane yakho unesifo se-Noonan.
Izici
I-Noonan syndrome ibonakalisa kokubili ngaphakathi nangaphandle komzimba, okwenza kube nokubukeka okuphawulekayo okuvezwe izici zomzimba zesimo, kanye nezinkinga zezokwelapha ezibangelwa isimo.
- Ukubukeka komzimba: Izici zobuso nezomzimba zomuntu one-Noonan syndrome zingase zibonakale zingavamile, noma zingase zibonakale zibe izici ezingokomzimba ezijwayelekile. Izincazelo ezibonakalayo ezibonakalayo ezihambisana nalesi simo ziyisayizi ezinhlokweni ezijwayelekile kunamakhanda, amehlo ahlukanisiwe, futhi afushane kunamazinga okuphakama.
- Inhloko : Ubuso nomuntu womuntu ophila ne-Noonan syndrome kuvame ukuchazwa njenge-triangular shape ngoba ebunzini likhulu kakhulu kunomhlathi omncane nomsana.
- Amehlo : Amehlo ayaziwa ukuthi atshaywa phansi, ngezinye izikhathi enokubukeka okubonakala ukumboza ohlangothini lobuso. Amajwabu amahlombe angase abe mkhulu, adala amapulangwe ajulile esikhumba.
- Umkhuhlane : I-Noonan syndrome iphinde ihlotshwe nentamo ebomvu, okusho ukuthi abantu abathintekayo yalesi simo bangase babe nomkhuhlane okhudlwana kunokwenziwe ngesikhumba esikhwameni esivela ukwakha "iwebhu" phakathi kwesifuba nesifuba.
- Ukuvuvukala : Abanye abantu abane-Noonan syndrome bangase bazwe ukuvuvukala komzimba, izingalo, imilenze noma iminwe. Lokhu kuye kwachazwa ezinganeni kanye nabantu abadala abane-Noonan Syndrome futhi kubangelwa i-edema, okuyi-build-up of fluid.
- Ukuphakama okuncane kanye neminwe: Kuzo zonke izizwe, abantu abane-Noonan syndrome batholakala babe mfushane kunokulinganisa, futhi bangase babe neminwe emifushane. Izingane ezinalesi simo ngokuvamile azizona ezincane kunezibalo zokubeletha, kodwa zikhula kancane ngesikhathi sezinsana, ngakho-ke ukuphakama okufushane kuyinto eqala ukubonakala ngesikhathi sokusana noma ebuntwaneni.
Ngenkathi i-Noonan syndrome ivame ukuhlotshaniswa nezici ezithile zobuso nomzimba womzimba, kodwa kungaba khona indlela ehlukahlukene yokuthi lezi zici zivela kanjani. Ngakho-ke ukubonakala komzimba nokubonakala komzimba akunakunquma ukuthi umuntu othile unomsoco we-Noonan noma cha.
Izimpawu
Kunezimpawu eziningana zalesi simo, futhi kungenzeka noma angathinti wonke umuntu onoNoonan Syndrome.
- Ukudla okunzima : Ezinye izingane ezinesifo se-Noonan kungenzeka zingadli kanye nezingane ezijwayelekile zonyaka ofanayo, futhi lokhu kungabangela inkathazo ekutholeni isisindo nokuphuza ukukhula.
- Izinkinga zenhliziyo: Ukukhathazeka kwezempilo okuvame kakhulu okuhlobene ne-Noonan syndrome kuyinkinga yenhliziyo ebizwa nge-valve stveosis. Le nkinga iphazamisa ukugeleza kwegazi kusuka enhliziyweni kuya emaphashini, okubangelwa izimpawu ezifana nokukhathala, ukuphefumula, noma ukubukeka okwesibhakabhaka kwezindebe noma iminwe. Ngemva kwesikhashana, abantu abane-valve stenosis abangasaphathwa kabi bangathuthukisa inhliziyo ekhulisiwe, eyabangela ukukhathala futhi ingabangela izinkinga zenhliziyo ezinzulu, ezifana nokuhluleka kwenhliziyo, njengoba isikhathi siqhubeka. Kukhona ezinye izinkinga zenhliziyo ezihlobene ne-Noonan syndrome, kuhlanganise nokulimala kwe-hypertrophic obstructive , i-atrial septal defect, ne-septric defect defect.
- Ukuqhaqhazela noma ukukhipha isisu: I- Noonan syndrome ingabangela izinkinga zokuqeda igazi, okuholela ekugundeni ngokweqile kanye nokwesula isikhathi eside kunesikhathi esivamile ngemuva kokulimala.
- Ukushintsha kombono: Okungenani ingxenye yengane ene-Noonan syndrome inezinkinga ngombono nokunyakaza kwamehlo, njengejoni elivilaphayo noma iso eliphambukile.
- Amathambo asindayo: Izingane kanye nabantu abadala abane-Noonan syndrome bangase babe nezinkinga ngamathambo okwakhiwa kwamathambo namathambo, okubangela amathambo angamaqabunga angakwazi ukulula kalula kunokujwayelekile noma angabangela isakhiwo somzimba esingavamile, ikakhulukazi esifubeni. Isibonelo sesakhiwo sangasese esingavamile esingase senzeke nge-Noonan syndrome "umgodi" ojulile esifubeni esingenhla. Akucaci ukuthi kungani lokhu kwenzeka, futhi akuthinti wonke umuntu onayo i-Noonan syndrome.
- Ukuvuthwa ngokocansi: Amantombazane namantombazane anesifo se-Noonan angase abhekwe ukubambezeleka kwentsha. Abanye abafana baye bahlukumeza ama-testicles futhi bangase banciphise ukuzala kamuva ekuphileni.
- Ukulibaziseka kokufunda: Kukhona ubudlelwane phakathi kokuphazamiseka kokufunda no-Noonan syndrome, nakuba isixhumanisi asinamandla. Ngokuvamile, ukwaziswa kwamanje mayelana nokuthuthukiswa kwengqondo yabantu abane-Noonan syndrome kusikisela ukuthi izingane ezinesimo sinalo ithuba eliphakeme kunalo lonke lokuba nokukhubazeka kokufunda, nakuba kuvame kakhulu izingane kanye nabantu abadala abane-syndrome ye-Noonan ikhono-nangaphezulu kwekhono lobuhlakani lobuhlakani liye labonakala.
Ukuxilongwa
Ubufakazi obucacile kakhulu bokuthi i-Noonan syndrome ivivinyo lobufuzo. Kodwa-ke, kulinganiselwa ukuthi phakathi kwamaphesenti angama-20 kuya ku-40 abantu abatholwa ukuthi bane-Noonan syndrome abanalo umlando womndeni wesimo noma abanalo ukungajwayelekile okutholakala ngokuhlolwa kofuzo. Ngezinye izikhathi, ezinye izivivinyo nokubona kungase kusekele ukuxilongwa.
- Ukuhlola i-Laboratory: Ukuhlolwa kwegazi ukuhlola umsebenzi we-clotting umsebenzi kungavamile noma kungavamile kubantu abane-Noonan syndrome. Akukho ukulungiswa okuqinile phakathi kokuhlolwa kwegazi okuhlola ukugaya igazi kanye nezimpawu zokulimaza noma ukuphaphaza.
- Izivivinyo zomsebenzi wezinhliziyo: Ukuxilongwa kwe-pulmonary hypertension kanye nezinye izinkinga zenhliziyo ezihlobene ne-Noonan syndrome zingase zisekele ukuxilongwa kwalesi simo. Noma kunjalo, zonke izimo zenhliziyo ezihlotshaniswa nalesi sifo zingenzeka kwezinye izimo; ukuhlonza esinye sezimo zenhliziyo akuqinisekisi i-Noonan syndrome, futhi ukungabi khona kwenkinga yenhliziyo akusho ukuthi umuntu akanalo i-Noonan syndrome.
- Ukuhlolwa kwegazi: Kunezifo eziningana ezihlotshaniswa ne-Noonan syndrome, futhi uma lezi zakhi zofuzo zikhonjwa, ikakhulukazi phakathi kwamalungu omndeni, lokhu kungaba ukuqinisekiswa kokuxilongwa kwesifo.
Okufanele Ukulindele
Ukulinda kokuphila ne-Noonan syndrome ngokuvamile kuvamile, kodwa kungase kube nezinkinga zempilo ezidinga ukubhekwa ngokunakekelwa kwezokwelapha noma ukuhlinzwa.
- Ukukhipha igazi kungaholela ekulahlekelweni kwegazi, okungabangela izimpawu zokukhathala. Ngokuvamile, ukuphuma ngokweqile kungaholela ekulahlekelweni kokuqwashisa noma isidingo esiphuthumayo sokumpompela igazi.
- Isifo senhliziyo yisisusa sezempilo esijwayelekile kakhulu se-Noonan syndrome. Isifo senhliziyo singabangela ukwehluleka kwenhliziyo, ngakho-ke kubalulekile ukugcina njalo ukulandelana nomuntu we-cardiologist uma wena noma ingane yakho unesifo se-Noonan.
- Uma une-Noonan syndrome, kunethuba elandisiwe lezinhlobo ezithile zomdlavuza, ikakhulukazi umdlavuza wegazi, njenge-juvenile myelomonocytic leukemia neuroblastoma.
Ukwelapha
Ukwelashwa kwe-Noonan syndrome kugxile ezicini eziningana zesifo.
- Ukuvimbela izinkinga ezinzulu zenhliziyo: Ukuxilongwa kokuqala kanye nokuphathwa kwezinkinga zenhliziyo kungavimbela imiphumela yesikhathi eside sempilo. Kuye ngokuthi ubuhlungu nobuhlobo benhliziyo, imithi, ukuhlinzwa noma ukubuka okukude kungase kube yindlela engcono kakhulu kuwe.
- Ukuthola nokwelapha izinkinga zezokwelapha: I- Noonan syndrome ihlotshaniswa nezinkinga ezihlukahlukene zezempilo ezivela ekungeneni kwegazi kuze kube yilapho ingena emdlalweni. Kuze kube manje, akekho uvivinyo olungakwazi ukubikezela ukuthi uzobe uhlakulela enye yalezi zinkinga ngaphambi kokuba ziqale ukuphazamisa umzimba. Vala ukunakekelwa kwezokwelapha kuhlanganisa ukuvakashelwa okunezinhlelo eziningi zokwelapha ukuze udokotela wakho abone izinkinga ezikhulayo ezivela emlandweni wakho wezokwelapha kanye nokuhlolwa ngokomzimba ngenkathi usaphathwa.
- Ukukhuthaza ukukhula okujwayelekile: I- hormone yokukhula isetshenzisiwe kwezinye izingane ezine-Noonan Syndrome njengendlela ekhuthaza ukukhula, okusiza ekufinyeleleni ukuphakama okuphelele kanye nesimo somzimba nesakhiwo. Nakuba i-hormone yokukhula isetshenziswe njengeqhinga eliphumelelayo lezingane ezine-syndrome ye-Noonan, amazinga we-hormone yokukhula kanye namanye ama-hormone awavamile kubantu abanesimo.
- Ukwelulekwa nge-Genetic: Lesi simo ngokuvamile sifa futhi abanye abazali bangathanda ukuthola ulwazi oluningi ngangokunokwenzeka mayelana nengozi yezifo ezithile ezifana ne-Noonan syndrome lapho behlela umndeni.
Izimbangela
I-Noonan syndrome iyinhlanganisela yezici zomzimba nezinkinga zezempilo ezigxile ekuleleni kwesiprotheni okuvame ukubangelwa ukungavamile kofuzo.
Ukungajwayelekile kwezakhi zofuzo kuthinta iphrotheni ehilelekile ekuguquleni izinga lapho umzimba ukhula khona.
Le protheyini isebenza ngokukhethekile ku-RAS-MAPK (indlela yokudlulisa isignali enamagen-activated pathase), okuyinto engxenyeni eyinhloko yokuhlukaniswa kwamaseli. Lokhu kubalulekile ngoba umzimba womuntu ukhula ngokusebenzisa inqubo yokwahlukana kwamaseli, okuwukukhiqizwa kwamaseli omuntu amasha avela kumaseli asevele asekhona. Ukuhlukaniswa kwe-cell ngokuyisisekelo kubangela amangqamuzana amabili esikhundleni somunye, okhiqiza izingxenye zomzimba ezikhulayo. Lokhu kubaluleke kakhulu ngesikhathi sokusana kanye nobuntwana lapho umuntu ekhula ngobukhulu. Kodwa ukuhlukaniswa kwamaseli kuqhubeka yonke impilo njengoba ukulungiswa komzimba, ukuvuselela, nokuvuselela kabusha. Lokhu kusho ukuthi izinkinga ngokuhlukaniswa kwamaseli zingathinta izitho eziningi emzimbeni wonke. Yingakho i-Noonan syndrome inezibonakaliso eziningi zomzimba nezimonyo ezihambisanayo.
Ngenxa yokuthi i-Noonan syndrome ibangelwa ukuguqulwa kwi-RAS-MAPK, ibizwa ngokuthi i-RASopathy. Kunezinhlobo eziningi ze-RASopathies, futhi zonke izifo ezingavamile kakhulu.
I-Genesini neHeredity
Ukungasebenzi kwamaprotheni we-Noonan syndrome kubangelwa ukukhubazeka kwezakhi zofuzo. Lokhu kusho ukuthi izakhi zofuzo emzimbeni owakha ikhodi yeprotheyini ephethwe i-Noonan syndrome inekhodi ephosakekile, evame ukubizwa ngokuthi yinguquko. Ukuguqulwa kwemvelo kuvame ukufa, kodwa kungase kube okuzenzakalelayo, okusho ukuthi kwenzeka ngaphandle kokuthola ifa lomzali.
Kuvela ukuthi kunezinhlobo ezine ezihlukile zegenes ezingabangela i-Noonan syndrome. Lezi zakhi zofuzo ziyi-gene PTPN11, isakhi se-SOS1, isakhi se-RAF1, nesakhi se-RIT1, esinamaphutha wegciwane le-PTPN11 elihlanganisa cishe ama-50% wezimo ze-Noonan Syndrome. Uma umuntu ezuza noma ehlakulela noma yikuphi kwalezi zinhlobo ezine ezingafani, i-Noonan Syndrome ilindeleke ukuba yenzeke.
Lesi sifo sizuzwa njengezifo ezithinta i-autosomal, okusho ukuthi uma umzali oyedwa enesifo, ingane izobe nayo isifo. Lokhu kungenxa yokuthi ifa laleli gciwane elingavamile elivela kumzali oyedwa libangele ukulahleka kokukhiqizwa kwamaprotheni oku-RAS-MAPK angeke akhokhwe ngisho noma umuntu ezuza ifa lomkhiqizo ovamile weprotheyini.
Kunezimo ze-Noonan Syndrome encane, okusho ukuthi ukungajwayelekile kwezakhi zofuzo kungavela emntwaneni ongazange azuze isabelo kubazali. Umuntu one-Noonan syndrome encane angase abe nomntwana onesimo ngoba izingane zomuntu othintekayo zingathola ifa elisha elingavamile.
Izwi elivela
Uma wena noma ingane yakho unesifo se-Noonan, kubalulekile ukuthi uhlale uvakashele nodokotela wakho futhi ufunde ukuthi ubona kanjani izimpawu ezihambisanayo. Abanye abantu kanye nemindeni enezifo ezingavamile ezifana ne-Noonan syndrome ithola ukuthi kuyasiza ukuxhuma namaqembu okukhuthaza kanye namaqembu okusekela, anganikeza ulwazi olusha futhi kunzima ukuthola izinsiza mayelana nesimo. Ukwengeza, ungase ufune ukubuza udokotela wakho mayelana nezivivinyo zamuva zokuhlola ukuze uhlale usesikhathini ngemithi emisha futhi mhlawumbe uhlanganyele ocaleni lokucwaninga ngokwakho .
> Imithombo:
> Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M. Noonan syndrome - inhlolovo entsha, i-Arch Med Sci. 2017 Feb 1; 13 (1): 215-222. doi: 10.5114 / aoms.2017.64720. Epub 2016 Dec 19.
> Jeong I, Kang E, Cho JH, Kim GH, Lee BH, Choi JH, Yoo HW. Ukusebenza kwesikhathi eside sokuvuselelwa kwe-human hormonal recombinant ngeziguli ezincane ezimnyama ezine-Noonan syndrome, Ann Pediatr Endocrinol Metab. 2016 Mar; 21 (1): 26-30. doi: 10.6065 / apem.2016.21.1.26. I-Epub 2016 Mar 31.