I-Noonan syndrome yimeko evelisa ukubonakala kwezinto ezibonakalayo kunye neenguqu zemizimba ezichaphazela umsebenzi womzimba ngezindlela ezininzi. Ikhethwe njengesifo esingavamile, kuqikelelwa ukuba le meko ichaphazela malunga no-1 kubantu abayi-1000 ukuya kuma-2500. I-Noonan Syndrome ayinxulumene naluphina ummandla othile okanye uhlanga.
Nangona i-Noonan syndrome ayisongelo lobomi, ukuba unesimo onokuhlangabezana nazo kwizifo ezichaphazelekayo, kuquka nesifo senhliziyo, ukuphazamiseka kwegazi kunye nezinye iintlobo zomhlaza ngexesha lokuphila kwakho. Ezi ngxaki zempilo ezihambelana nazo zilindeleke ngokubambisana ne-Noonan syndrome Isiphumo sakho siya kuba ngcono xa uthabathe ukutyelela unyango ukubeka iliso impilo yakho kwaye ufumane unyango olufanelekileyo ngexesha leyonyango ephakama ngaphambi kokuba iqhubeke nemiphumo emibi.
Uchonga
Ukuchonga i-Noonan syndrome kusekelwe ekubonweni kwemibonakalo edibeneyo. Kukho inqanaba kwibunzima bokugula, kwaye abanye abantu banokuba neemeko ezibonakalayo ezibonakalayo okanye iimpembelelo ezempilo ngakumbi kunabanye.
Ukuba usuvele uyazi ukuba unamalungu entsapho afunyanwe ukuba une-Noonan syndrome, oku kunokukunceda ukuba ubone iimpawu ezibonisa ukuba wena okanye umntwana wakho unokuchaphazeleka.
Ugqirha wakho uye waqaphela ukuhlanganiswa kweempawu zomzimba, iimpawu kunye nempilo yezinto ezigulayo. Isinyathelo esilandelayo emva kokubonakalisa iimpawu zeemeko kukuqhubela phambili uphando malunga nokuba wena okanye umntwana wakho unesifo seNoonan.
Iimpawu
I-Noonan syndrome ibonakalisa ngaphakathi nangaphandle komzimba, obangela ukuba kubonakale umbala obonakaliswe yimpawu zenyama, kunye neengxaki zonyango ezibangelwa yimeko.
- Ukubonakala kwezinto ezibonakalayo: Ubume bomzimba nobuso bomntu onesi-syndrome ye-Noonan bubonakala ngathi buyinto engavamile, okanye bubonakala ngathi buyimpawu eziqhelekileyo. Iinkcazo ezibonakalayo ezibonakalayo ezihambelana nale meko zikhulu kunomxholo wentloko eqhelekileyo, amehlo ahlukeneyo, kunye nendawo emfutshane kunokuphakama komyinge.
- Intloko : Ubuso kunye nentloko yomntu ohlala kunye ne-Noonan syndrome zidla ngokuchazwa njenge-triangular shape ngoba ibunzi likhulu kunomhlathi omncinci.
- Amehlo : Amehlo ayaqatshelwa ukuba atshaywe phantsi, ngamanye amaxesha enembonakalo ebonakala ewujikeleza ecaleni lobuso. Iingwephe ezinokuthi zibe zininzi, zenze i-fold folds.
- Umkhuhlane : I-Noonan syndrome idibaniswa nentamo eboyiweyo, oko kuthetha ukuba abantu abachaphazelekayo le meko banokuba banomthi ogqithiseleyo kunentamo eqhelekileyo kunye ne-skin creases ebonakala ngathi yenza "i-web" phakathi kwesifuba nomhlathi.
- Ukuvuvukala : Abanye abantu abanesifo seNoonan bafumana ukuvuvukala komzimba, iingalo, imilenze okanye iminwe. Oku kuchazwe kwiintsana kunye nabantu abadala abane-Noonan Syndrome kwaye kubangelwa yi-edema, eyona yakha ukwakha amanzi.
- Ukuphakama okufutshane kunye neminwe: Kuzo zonke iinkcubeko, abantu abane-syndrome yeNoonan bafumaneka bude kunomyinge, kwaye banokuba neminwe emfutshane. Abantwana abanalo mqathango ngokuncinci bangaphantsi komyinge wokuzalwa, kodwa bakhula ngokukhawuleza ngexesha lokusana, kwaye ngoko ukuphakama okufutshane into eqala ukubonakalayo ngexesha lokusana okanye kwasebuntwaneni.
Nangona i-Noonan syndrome idla ngokudibeneyo kunye nezihlobo zobunjani kunye nomzimba womzimba, kodwa kukho ubuninzi beendlela ezibonakala ngayo. Ngoko ukubonakala komzimba kunye nomzimba akunakukwazi ukuqiniseka ukuba umntu unayo i-Noonan syndrome okanye akunjalo.
Iimpawu
Kukho iimpawu ezininzi zeli meko, kwaye zinokuchaphazela okanye zingathinteli wonk 'ubani onoNoonan Syndrome.
- Ingxaki yokutya : Ezinye iintsana ezinama-Noonan syndrome zingenakudla kunye neentsana eziqhelekileyo zonyaka, kwaye oku kunokubangela ukuba inkathazo ithwale ubunzima kunye nokulibaziseka ukukhula.
- Iingxaki zeentliziyo: Inkxalabo echaphazelekayo yezempilo ehambelana ne-Noonan syndrome yinkinga yenhliziyo ebizwa ngokuba yi-valmone valve stenosis. Le ngxaki iphazamisa ukuhamba kwegazi ukusuka entliziyweni ukuya kumaphaphu, okubangelwa iimpawu ezifana nokukhathala, ukuphefumula okufutshane, okanye ukubonakala kwebluhlaza emilonyeni okanye iminwe. Emva kwithuba elithile, abantu abane-stenosis ye-pulmary pulvey stenosis bangakhula intliziyo ekhulisiweyo, nto leyo ibangelwa ukukhathala kwaye ingabangela iingxaki ezinzulu zeentliziyo, ezifana nokuhluleka kwentliziyo, njengoko ixesha liqhubeka. Kukho ezinye iintsilelo zentliziyo ezinxulumene ne-Noonan syndrome kunye nokuquka i- hypertrophic obstructive cardiomyopathy , i-defect septal defect, kunye ne-septal defect defect.
- Ukuhlambalaza okanye ukuhlambalaza: I- Noonan syndrome inokubangela iingxaki zokuvalwa kwegazi, ezibangelwa ukutyumza ngokweqile kunye nokuphuma kwegazi ixesha elingaphezulu kwexesha eliqhelekileyo emva kokulimala.
- Umbono utshintsho: ubuncinane isiqingatha sabantwana abanama-Noonan syndrome baneengxaki ngombono kunye nokunyuka kwamehlo, njengeliso elibucayi okanye iso elingekho.
- Amathambo asweleyo: Abantwana kunye nabantu abadala abanesifo seNoonan banokuba neengxaki zethambo namathambo emandla, okubangelwa ngamathambo angamaqhekeza angakwazi ukuphulaphula ngokulula kunokuqhelekileyo okanye oko kunokubangela isakhiwo somzimba esingavamile, ngokukodwa kwisifuba. Umzekelo wesakhiwo esingasimangalisa amathambo esingenzeka nge-Noonan syndrome "umgodi" onzulu. Akucaci ukuba kutheni le nto ivela, kwaye ayichaphazeli wonk 'ubani onayo i-Noonan syndrome.
- Ukukhula komzimba: Abafana kunye namantombazana anesifo seNoonan banokuphulukana nokuphelelwa ngumntwana. Amanye a makhwenkwe awanakunqwenela ama-testicles kwaye angahle atyeke ukuzala emva koko ebomini.
- Ukulibaziseka kokufunda : Kukho ubudlelwane phakathi kweengxaki zokufunda kunye ne-Noonan syndrome, nangona ikhonkco ayinamandla. Ngokubanzi, ulwazi olwangoku malunga nokuphuhliswa kwengqondo yabantu abaneNyantan syndrome kubonisa ukuba abantwana abaneemeko banamathuba aphezulu okuba nokukhubazeka kokufunda, nangona kuqhelekileyo kubantwana kunye nabantu abadala abane-syndrome ye-Noonan ukuba babe neengqondo eziqhelekileyo ubuchule-nangaphezulu kwendlela yokuqonda yengqondo kubonisiwe.
Ukuxilongwa
Ubungqina obucacileyo obuphezulu be-Noonan syndrome ngumvavanyo wofuzo. Nangona kunjalo, kuqikelelwa ukuba phakathi kwama-20 ukuya kuma-40 ekhulwini abantu abafunyaniswa ukuba bane-Noonan syndrome abangenayo imbali yentsapho kwimeko okanye abanalo uphawu olungavumelekanga olufunyenwe ngokuvavanya i-genetic. Ngamanye amaxesha, ezinye iimvavanyo kunye nokuqwalasela kunokuxhasa ukuxilongwa.
- Iimvavanyo zeLebhanki: Iimvavanyo zegazi ukuvavanya umsebenzi we-clotting function ingaba yinto eqhelekileyo okanye engaqhelekanga kubantu abane-Noonan syndrome. Akukho ulungelelwano olunamandla phakathi kweemvavanyo zegazi ezivavanya igazi kunye neempawu zokubetha okanye ukuphaphaza.
- Iimvavanyo zomsebenzi wenhliziyo: Ukuxilongwa kwe-pulmonary hypertension kunye nezinye iintsilelo zentliziyo ezidibene ne-Noonan syndrome zinokuxhasa ukuxilongwa kwalo mqathango. Nangona kunjalo, zonke iimeko zeentliziyo ezinxulumene nale syndrome zingenzeka kwezinye iimeko kunye; Ukuchongwa kweemeko zentliziyo ayiqinisekisi i-Noonan syndrome, kwaye ukungabikho kwengxaki yentliziyo akuthethi ukuba umntu akanalo isifo seNoonan.
- Uvavanyo lwe-Genetic: Kukho iindidi ezininzi ezidibene ne-Noonan syndrome, kwaye ukuba ezi zifo zentlupheko zichongiwe, ngokukodwa phakathi kwamalungu entsapho, oku kungokuqinisekiswa kokuxilongwa kwe-syndrome.
Yintoni ongayilindela
Ukulindela ubomi nge-Noonan syndrome ngokuqhelekileyo kuqhelekileyo, kodwa kunokubakho iingxaki zempilo ezifuneka ziqwalaselwe ngogqirha okanye unyango.
- Ukuhlamba kungabangela ukulahleka kwegazi, oku kungabangela iimpawu zokukhathala. Ngokuqhelekanga, ukuphuma kwegazi ngokugqithiseleyo kunokubangela ukulahlekelwa yinkxalabo okanye iimfuno ezingxamisekileyo zokumpontshelwa igazi.
- Isifo senhliziyo sisisiphumo sezempilo esiqhelekileyo se-Noonan syndrome. Isifo senhliziyo singabangela ukuhluleka kwentliziyo, ngoko ke kubalulekile ukugcina ulandelelwano lwe-cardiologist ukuba wena okanye umntwana wakho unayo i-Noonan syndrome.
- Ukuba unayo i-Noonan syndrome, kukho ithuba elongeziweyo lweentlobo ezithile zomhlaza, ngokukodwa iisondo zegazi, ezifana ne-juvenile ye-myelomonocytic leukemia ne-neuroblastoma.
Unyango
Unyango lwe-Noonan syndrome lujoliswe kwiinkalo ezininzi zesifo.
- Ukuthintela iingxaki ezinzulu zeengxaki: Ukuxilongwa kwangaphambili kunye nokulawulwa kweengxaki zentliziyo kunokuthintela iziphumo zempilo emide. Ngokuxhomekeka kubukhulu kunye nohlobo lwentliziyo yezilwanyana, unyango, utyando okanye ukujonga okufutshane kungayona nto ingcono kakhulu kuwe.
- Ukuchonga nokunyanga iingxaki zezokwelapha: I- Noonan syndrome idibene neengxaki ezahlukeneyo zempilo ukusuka ekuphumeni kwintsholongwane ukuya kwintsholongwane yomhlaza. Kuze kube ngoku, akukho vavanyo oluya kuqikelela ukuba uya kuphuhlisa enye yeengxaki ngaphambi kokuba iqale ukuchaphazela umzimba. Ukunyamekela unyango lwezokwelapha kubandakanya ukutyelelwa rhoqo kwezonyango ukwenzela ukuba ugqirha wakho akwazi ukubona iingxaki ezisanda kuvela kwimbali yakho yonyango kunye neemviwo zenyama xa besaphathwa.
- Ukukhuthaza ukukhula okuqhelekileyo: I- hormone yokukhula isetyenziswe kwabanye abantwana abaneNoonan Syndrome njengendlela ekhuthaza ukukhula, okunceda ekufumaneni ukuphakama okuphezulu kunye nesimo saso kunye nesakhiwo. Nangona i-hormone yokukhula isetyenziswe njengesicwangciso esiyimpumelelo kubantwana abane-syndrome ye-Noonan, amanqanaba okukhula kwe-hormone kunye namanye ama-hormone awaqhelekanga kubantu abaneli meko.
- Ukucebisa nge-Genetic: Lo mqathango uvame ukuba ngumzuzwana kwaye abanye abazali bafuna ukuba nolwazi oluninzi ngokunokwenzeka malunga nomngcipheko wezifo ezithile ezifana ne-Noonan syndrome xa ziceba intsapho.
Izizathu
I-Noonan syndrome inxulumene neempawu zomzimba kunye neengxaki zempilo ezixhomekeke kwisiphene seprotheni esivame ukubangelwa yinto engavamile yokuzalwa.
Ukungaqhelekanga kwemfuza kuguqula iprotheni echaphazelekayo ekuguquleni izinga apho umzimba ukhula khona.
Le prothini isebenza ngokukodwa kwi-RAS-MAPK (inqubo ye-transogene-protein kinase) ye-protein kinase), eyona nxalenye ebalulekileyo yesahlulo seseli. Oku kubalulekile kuba umzimba womntu ukhula ngokusebenzisa inkqubo yesahlulo seseli, okuveliswa kweeseli ezitsha zabantu ukusuka kwiiseli ezikhoyo. Ulwahlulo lwamaseli lubangela ukuba kusetyenziswe iiseli ezimbini endaweni enye, evelisa izixhobo zomzimba ezikhulayo. Oku kubaluleke ngakumbi ebusaneni nasebuntwaneni xa umntu ekhula ngobukhulu. Kodwa ulwahlulo lweseli luqhubeka lonke ubomi njengoko ukulungiswa komzimba, ukuvuselela, nokuvuselela. Oku kuthetha ukuba iingxaki zesahlulo seseli zingathintela amalungu amaninzi kuwo wonke umzimba. Yingakho isifo se-Noonan sinokuboniswa okuninzi kunye nokuziqhenqa.
Ngenxa yokuba i-Noonan syndrome ibangelwa yiinguqu kwi-RAS-MAPK, ibizwa ngokuba yi-RASopathy. Kukho iiRASopathies eziliqela, kwaye zizonke izifo eziqhelekanga.
IGenesis neHeredity
Ukungasebenzi kweprothini ye-Noonan syndrome kubangelwa isiphako somzimba. Oku kuthetha ukuba izakhi zofuzo ezisemzimbeni onokukhuphela kwiprotheyini enoxanduva lwe-Noonan syndrome inekhowudi ephosakeleyo, evame ukubizwa ngokuba yinguqulelo. Ukutshintshwa kwezinto ngokuqhelekileyo kukufa, kodwa kungenjalo, oko kuthetha ukuba kwenzeka ngaphandle kokufumana ilifa kumzali.
Kuvela ukuba kukho ezine ezinezinto ezingafaniyo ezingabangela i-Noonan syndrome. Ezi zakhi zofuzo ziyi-PTPN11, i-gene ye-SOS1, i-RAF1, kunye ne-RIT1, kunye neziphene ze-PTPN11, ezibandakanya ama-50% amaxesha e-Noonan Syndrome. Ukuba umntu uzuza ilifa okanye ahlakulele nayiphi na enye yezinto ezingafaniyo ze-gene, i-Noonan Syndrome ilindeleke ukuba ivele.
Le meko izuzwe njengesifo esiphezulu se-autosomal, oko kuthetha ukuba ukuba omnye umzali unesi sifo, umntwana uya kuba nesifo. Oku kungenxa yokuba ilifa lale mveliso engafanelekiyo evela kumzali omnye kubangela isiphako kwi-RAS-MAPK yokuvelisa iprotheni engenakho ukuhlawulwa, nangona ukuba umntu uzuza ilifa lemveliso yesiqhelo kwiprotheni.
Kukho iziganeko zeNoonan Syndrome, oku kuthetha ukuba ukungaqhelekanga kofuzo kungavela kumntwana ongazange alitye ilifa kubazali. Umntu onesifo seNoonan esincinci angaba nomntwana ngenxa yokuba umntwana ochaphazelekayo unokufumana ilifa elitsha lokungaqhelekanga.
ILizwi
Ukuba wena okanye umntwana wakho unesifo seNoonan, kubalulekile ukuba uhlale utyelele ugqirha wakho kwaye ufunde indlela yokujonga iimpawu ezihambelana nazo. Abanye abantu kunye neentsapho ezinezifo ezinqabileyo ezifana ne-Noonan syndrome zifumene luncedo ukudibanisa namaqela okuxhasa kunye namaqela enkxaso, abanokunika ulwazi olutsha kunye nobunzima ukufumana izibonelelo malunga nemeko. Ukongezelela, unokufuna ukubuza ugqirha wakho malunga nezilingo zokugqibela zamalinge ukuze uhlale usesikhatyathwe kwizonyango ezintsha kwaye mhlawumbi uthathe inxaxheba kwilingo lophando ngokwakho .
> Imithombo:
> Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M. Noonan syndrome - uphando olutsha, iArch Med Sci. 2017 Feb 1; 13 (1): 215-222. i-doi: 10.5114 / aoms.2017.64720. Epub 2016 Ngomhlaka 19.
> Jeong I, Kang E, Cho JH, Kim GH, Lee BH, Choi JH, Yoo HW. Ukusebenza kwexesha elide lokuxilongwa kwe-hormone ye-human recombinant kwi-izigulane ezimfutshane ezinesifo seNoonan, u-Ann Pediatr Endocrinol Metab. Ngo-2016 Mar; 21 (1): 26-30. i-doi: 10.6065 / apem.2016.21.1.26. Epub 2016 Mar 31.