Ngaba umntwana wakho unazo ezi mpawu? Masithethe ngeNoonan Syndrome

Njengomama okanye utata, mhlawumbi uhlala uxhalabile ngempilo nophuhliso lomntwana wakho. Ngamanye amaxesha kuyinto eqhelekileyo ukuziva usoyika kancinci xa ubona utshintsho oluncinci kwinkangeleko yomntwana wakho okanye iingxaki zophuhliso. Namhlanje siza kuthetha ngemeko ebalulekileyo yemfuza ekufuneka abazali abanjalo bayiqaphele. Leyo yimeko ebizwa ngokuba yiNoonan Syndrome.

Yintoni iNoonan Syndrome?

Ngamafutshane, iNoonan Syndrome yimeko yemfuza . Ibangelwa kukutshintsha kwezakhi zofuzo emizimbeni yethu. Le meko inokuchaphazela umntwana wakho ngeendlela ezahlukeneyo. Abanye abantwana bazalwa benale meko, kodwa iimpawu zinokuba zincinci kakhulu. Oku kuthetha ukuba banokuphila ubomi obuqhelekileyo ngaphandle kweengxaki ezinkulu. Nangona kunjalo, abanye abantwana banokuba neengxaki ezingaphezulu .

Kule meko, ubuso bomntwana bunokuba neempawu ezithile ezahlukileyo . Umzekelo, ibunzi eliphezulu, ukuvuleka kwamehlo, iindlebe ezisezantsi, kunye nentamo emfutshane. Kwakhona, abantwana abaninzi abaneNoonan Syndrome bafutshane ngokweminyaka yabo, oko kuthetha ukuba banokubonakala bebafutshane . Iingxaki zamehlo, imisipha ephantsi, kunye nesifo sentliziyo sokuzalwa nazo zixhaphakile.

Kodwa nantsi into, akukho nyango lweNoonan Syndrome. Kodwa ungakhathazeki! Ugqirha wakho angakunika isikhokelo osidingayo ukuze umntwana wakho ahlale esempilweni kangangoko kunokwenzeka. Banokusebenzisana nawe ukuthintela okanye ukubona iingxaki ezinokuvela ngenxa yesi simo. Emva koko umntwana wakho unokuphila ubomi obupheleleyo nobusebenzayo .

Ngubani ofumana le meko? Ixhaphake kangakanani?

I-Noonan Syndrome yimeko enokwenzeka xa umntu ezalwa. Asinakuqikelela ukuba ngubani oza kuyibangela kwaye ngubani oza kungayi kuba nayo. Nangona kunjalo, ngokwezibalo, malunga nama -50% abantu abane-Noonan Syndrome bayifumana njengelifa le meko komnye wabazali babo. Kwiimeko ezininzi, umntu one-Noonan Syndrome unethuba elingama-50% lokuyidlulisela kumntwana wakhe.

I-Noonan Syndrome sisifo esixhaphakileyo semfuza . Oko kukuthi, sixhaphake kancinci kunezinye izifo ezingaqhelekanga zemfuza. Xa sithetha nje, kubikwa ukuba phakathi komntu omnye kwi-1,000 ukuya kwi-2,500 unokufumana esi sifo.

Yintoni ebangela iNoonan Syndrome?

Le meko ibangelwa kakhulu kukungabikho kwee-enzymes ezinceda izicubu zomzimba wethu zikhule kwaye zikhule.Ibangelwa lutshintsho kwiijini ezithile (iinguqu). Ngokukodwa, iiproteni eziveliswa zezi jini zitshintshileyo zihlala zisebenza ixesha elide kunokuba kufanele. Oku kuthintela iiseli ekukhuleni nasekuhlukaneni ngokufanelekileyo.

Kukho iindlela ezimbini apho i-Noonan Syndrome inokwenzeka khona:

• Ilifa: Umntwana uyifumana njengelifa le meko komnye wabazali.
• Utshintsho oluzenzekelayo: Imeko eyenzeka ngenxa yotshintsho olutsha lwemfuza, kungekho mntu kusapho lwakhe owayekhe waba nale meko ngaphambili.

Uvavanyo lwemfuza olukhoyo ngoku lunokufumanisa ukungaqheleki kwemfuza kubantu abamalunga nama- 80% abaneNoonan Syndrome. Nangona kunjalo, abaphandi abakayazi eyona nto ibangela le meko kubantu abaseleyo.

Ngaba kukho ezinye iimeko ezifana neNoonan Syndrome?

Ewe, iNoonan Syndrome yimeko ekwiqela lezifo ezinxulumene noko ezibizwa ngokuba yiRASopathies . Zonke ezi zifo zibangelwa ziingxaki ngendlela efanayo naleyo iiseli ezikhula ngayo. Ke ngoko, iimpawu zazo ziyafana kakhulu.

Ezinye izifo ezikudidi lwe-'RASopathies' zezi:

• Isifo sentliziyo kunye nolusu
• Isifo seCostello
• Uhlobo lwe-Neurofibromatosis 1 (NF1)
• Isifo seLegius
• Isifo sikaNoonan esine-lentigines ezininzi (esasisaziwa ngokuba yi-LEOPARD syndrome)
• I-Turner syndrome

Zithini iimpawu zeNoonan Syndrome?

Iimpawu zeNoonan Syndrome zinokwahluka kumntu nomntu. Abanye abantu baneempawu ezincinci kakhulu, ngelixa abanye beneempawu ezinzima nezisongela ubomi. Kuxhomekeke ekubeni leliphi ilungu lomzimba womntwana elichaphazelekileyo. Uninzi lweempawu luqala ngexesha umntwana esakhula esibelekweni, okanye luvele ngaphambi kokuba umntwana abe neminyaka eli-11 ubudala .

Iimpawu zobuso ezibonakalayo

Iimpawu zobuso ezibonakala ebantwaneni abaneNoonan Syndrome zisenokuphela kancinci kancinci njengoko umntwana efikelela ebudaleni . Oko kukuthi, zisenokungabonakali kangako njengoko zazinjalo ekuqaleni. Ezi mpawu zingabandakanya:

• Ukuba nebunzi eliphakamileyo .
• Ukuba nomngxuma onzulu phakathi komlomo ongaphezulu.
• Ijwabu eligobileyo (i-ptosis).
• Inempumlo esicaba kunye nencam ende.
• Iindlebe zibekwe phantsi kunesiqhelo.
• Amehlo aluhlaza okwesibhakabhaka okanye aluhlaza.
• I-Strabismus yimeko apho umgama phakathi kwamehlo uyanda kwaye amehlo atyekele ezantsi, ngamanye amaxesha ajongane.

Ezinye iimpawu zomzimba

Ukongeza kwiimpawu zobuso, kukho nezinye iimpawu zomzimba eziqhelekileyo:

• Ukudumba kweminwe okanye iintende zeenyawo.
• Izipikili ezinemilo okanye umbala ongaqhelekanga.
• Intamo emfutshane kunye nomgca weenwele osezantsi ngasemva kwentamo, mhlawumbi kunye neentambo emacaleni entamo.
• Ubufutshane bobude (ubufutshane bobude ngokweminyaka).
• Isifuba esitshoneyo (i-pectus excavatum) okanye ithambo lesifuba eliphumayo (pectus carinatum).

Isifo sentliziyo

Abantwana abaninzi abaneNoonan Syndrome banokuba nesifo sentliziyo sokuzalwa . Abanye abantwana banokufuna unyango olukhawulezileyo lwesi sifo sentliziyo. Abanye basenokungabi nazimpawu de kube kudala ebomini. Ezona zifo zentliziyo zixhaphakileyo zezi:

• Ingxaki ye-Atrial septal.
• I-hypertrophic cardiomyopathy.
• I-stenosis yemithambo yemiphunga.

Ezinye iingxaki ezinokubakho

Ukongeza koku, iNoonan Syndrome inokubangela ezinye iingxaki ezininzi:

• Ubunzima bokuphefumla, umzekelo, ngenxa yokuthamba kwengxolo (laryngomalacia).
• I-Lymphedema (ukuqokelelwa kolwelo lwe-lymph ezingalweni okanye emilenzeni).
• Ukulibaziseka kophuhliso .
• Ukopha kakhulu kunokuqhelekileyo okanye ukukrweleka lula.
• Ubunzima bokutya ebuntwaneni.
• Amasende angaphumi emakhwenkweni. Ukuba ayenganyangwa, oku kunokuchaphazela iingxaki zokuzala.
• I-Scoliosis.
• Iingxaki zokubona okanye ukukhubazeka kokuva (ukukhubazeka kokuva).
• Iziphene zokuzalwa ezinxulumene nezintso.

Ziziphi ezinye iingxaki ezinxulumene neNoonan Syndrome?

Abantwana abaninzi abaneNoonan Syndrome bakhula kancinci kancinci kunesiqhelo njengoko befikelela kwinqanaba lokufikisa. Nangona kunjalo, banokuzalwa benobude obuqhelekileyo. Malunga nama- 25% banokukhubazeka kokufunda. Inani elincinci labo lisenokuba nokukhubazeka kwengqondo. Phakathi kwe-10% kunye ne-15% yabantwana abaneNoonan Syndrome banokufuna imfundo ekhethekileyo. Le meko inokubangela ukulibaziseka kokukhula, iingxaki zokuziphatha, okanye iingxaki zokuthetha.

Abanye abantwana abaneNoonan Syndrome baba ne -juvenile myelomonocytic leukemia (JMML) , uhlobo olungaqhelekanga lwe-leukemia oluvela ebuntwaneni.Umngcipheko wokuba nomhlaza wamabele okanye eminye imidlaza yabantwana unokwanda kancinci. Nangona kunjalo, umngcipheko uwonke ucingelwa ukuba umalunga ne -4% xa uneminyaka engama-20 ubudala. Ngoko ke, khumbula, ngumngcipheko ophantsi kakhulu .

Ifunyanwa njani iNoonan Syndrome?

Ugqirha wakho unokurhanela ukuba uneNoonan Syndrome emva kokuhlolwa ngokwasemzimbeni kunye nokuphononongwa kweempawu zomntwana wakho. Ukuqinisekisa ukuxilongwa kunye nokuthintela ezinye iimeko, ugqirha wakho unokucebisa uvavanyo lwemfuza .

Kunokwenziwa ezinye iimvavanyo ezininzi ngale nto:

• Uvavanyo lwegazi olupheleleyo (CBC).
• I-X-ray yesifuba.
• Iskeni ye-CT.
• I-echocardiogram luvavanyo olujonga ukusebenza kwentliziyo.
• Uvavanyo lwe-EKG (i-Electrocardiogram (EKG)).
• Uvavanyo lwe-ultrasound.

Ngaba ikho indlela yokunyanga iNoonan Syndrome?

Hayi, akukho nyango lweNoonan Syndrome. Kodwa ungakhathazeki! Kukho unyango olusebenzayo olunokukunceda wena nomntwana wakho nilawule iimpawu.

Inyangwa njani iNoonan Syndrome?

Iqela lezonyango lomntwana wakho liza kuyila isicwangciso sonyango lweNoonan Syndrome ngokusekelwe kwiimpawu zomntwana wakho kunye nobunzima bazo. Umntwana wakho anokufumana unyango olufana nolu:

• Izixhobo zokuncedisa: ezifana neeglasi okanye izixhobo zokuva.
• Unyango lokuziphatha okanye lokuthetha .
• Inkxaso yemfundo kubantu abaneengxaki zokufunda.
• Amayeza esifo sentliziyo somntwana, iingxaki zokopha, okanye ukukhula kancinci .
• Unyango lwe-hormone yokukhula.
• Unyango oluncedisayo olufana nonyango lokucinezela, olunceda kwiimeko ezifana ne-lymphedema.

Kwezinye iimeko, ugqirha wakho unokucebisa utyando . Khumbula, ukubonwa kwangoko kubalulekile ukuze ufumane unyango olusebenzayo kunye nonyango olulandelayo.

Ngubani onokufakwa kwiqela lonyango lweNoonan Syndrome lomntwana wam?

Ukongeza kugqirha wakho wezingane, iqela lezonyango elijongene nempilo yomntwana wakho linokubandakanya iingcali ezifana nezi:

• Ingcali yezonyango lwemithambo yegazi.
• Ugqirha ogxile kwinkqubo yemithambo-luvo (ingqondo, umqolo, kunye nemithambo-luvo) (Ingcali yezifo zengqondo).
• Ugqirha wezifo zomhlaza.
• Ingcali yamehlo.
• Ingcali yemfuza.
• Ingcali yentliziyo.
• Ingcali ye-Endocrinologist.
• Ingcali yezifo ze-Nephrologist.
• Ingcali yesikhumba (ingcali yesikhumba, iinwele, kunye neenzipho).

Iqela lakho lokhathalelo liza kucebisa unyango olufanelekileyo kumntwana wakho. Liza kujonga imeko yomntwana wakho kwaye lenze naluphi na utshintsho olufunekayo kumayeza okanye kwindlela yonyango, kuxhomekeke kwimeko yomntwana kunye nazo naziphi na iziphumo ebezingalindelekanga.

Ngaba kukho into endinokuyenza ukunciphisa umngcipheko womntwana wam kwiNoonan Syndrome?

Hayi. Akukho nto unokuyenza ukunciphisa umngcipheko wokuba umntwana wakho abe neNoonan Syndrome. Ibangelwa kukuguquka kwezakhi zofuzo . Nangona kunjalo, ukuba kukho umntu kusapho lwakho oneNoonan Syndrome, ungathetha nogqirha wakho malunga novavanyo lwezakhi zofuzo ngaphambi kokukhulelwa, olunokwenziwa ngexesha lokukhulelwa .

Liyintoni ikamva labantu abaneNoonan Syndrome?

Uninzi lwabantu abaneNoonan Syndrome baphila ubomi obusempilweni nobuzimeleyo.

Iqela lokhathalelo lomntwana wakho liza kusebenzisana nawe ukulawula iimpawu zomntwana wakho nokuthintela iingxaki. Ngoko ke, kubalulekile ukuhlala unethemba.

Ufanele ufune nini ingcebiso kagqirha ngeNoonan Syndrome?

Ukuba iNoonan Syndrome ibangela isifo sentliziyo esinzima sokuzalwa , utyando kunye nokuhlolwa okuqhubekayo kunokufuneka ukugcina umntwana wakho esempilweni kwaye ekhuselekile. Ugqirha wakho unokuxoxa nawe ngeendlela zonyango ezikhawulezileyo nezexesha elide.

Kuqhelekile ukuziva usoyika xa umntwana osandul’ ukuzalwa okanye umntwana okhulayo efumana uxilongo lwezonyango. Nangona kunjalo, abantwana abaninzi abafunyaniswe beneNoonan Syndrome baneempawu ezincinci . Kwaye baqhubeka bephila ubomi obupheleleyo nobukhutheleyo. Thetha nogqirha wakho malunga nonyango olusebenzayo okanye iindlela zokunyamekela eziqhubekayo ezilungiselelwe iimfuno zomntwana wakho. Unyango lwangethuba lunokunceda ukunciphisa ixhala lakho kwaye luncede umntwana wakho afumane iziphumo zempilo ezilungileyo.

Masikhumbule ezona zinto zibalulekileyo (Umyalezo Wokuya Ekhaya)

Kulungile, masiphinde sichaze amanqaku abalulekileyo koko sithethe ngako:

• I-Noonan Syndrome yimeko yemfuza .
• Iimpawu zoku ziyahluka , ezinye azibalulekanga kangako, ezinye zinzima ngakumbi.
• Ungabona izinto ezifana neempawu zobuso ezikhethekileyo, ubude obufutshane, kunye nesifo sentliziyo.
• Nangona kungekho nyango lupheleleyo, kukho unyango olusebenzayo olunokulawula iimpawu .
• Kubaluleke kakhulu ukufumanisa isifo nokuqala unyango kwangethuba .
• Iqela loogqirha abaziingcali liza kumnceda umntwana wakho.
• Abantwana abaninzi abaneNoonan Syndrome baphila ubomi obonwabisayo nobukhutheleyo .

Ngoko ke, ukuba umntwana wakho unezi mpawu, ungoyiki, bonana nogqirha ngokukhawuleza kwaye ufumane ingcebiso. Baza kukunika lonke uncedo olufunayo.

Isifo sikaNoonan , izifo zemfuza, isifo sentliziyo sokuzalwa, ukulibaziseka kokukhula, iimpawu zobuso, impilo yabantwana, uvavanyo lwemfuza