Ingabe ingane yakho inalezi zimpawu? Ake sixoxe nge-Noonan Syndrome

Njengomama noma ubaba, cishe uhlala ukhathazekile ngempilo nentuthuko yengane yakho. Ngezinye izikhathi kuyinto evamile ukuzizwa wesaba kancane uma ubona izinguquko ezincane ekubukekeni kwengane yakho noma ezinkingeni zokukhula kwayo. Namuhla sizokhuluma ngesimo esibalulekile sofuzo okufanele abazali abanjalo basiqaphele. Leso yisimo esibizwa ngokuthi i-Noonan Syndrome.

Iyini i-Noonan Syndrome?

Kalula nje, i-Noonan Syndrome iyisimo sofuzo . Sibangelwa ushintsho kumajini emzimbeni wethu. Lesi simo singathinta ingane yakho ngezindlela ezahlukene. Abanye abantwana bazalwa benalesi simo, kodwa izimpawu zingase zibe zincane kakhulu. Lokhu kusho ukuthi bangaphila impilo evamile ngaphandle kwezinkinga ezinkulu. Kodwa-ke, abanye abantwana bangase babe nezinkinga eziningi .

Kulesi simo, ubuso bomntwana bungaba nezici ezithile ezihlukile . Isibonelo, ibunzi eliphakeme, ukuvuleka kwamehlo, ama-earlobes aphansi, kanye nentamo emfushane. Futhi, izingane eziningi ezine-Noonan Syndrome zimfushane ngokweminyaka yazo, okusho ukuthi zingase zibonakale zimfushane . Izinkinga zamehlo, imisipha ephansi, kanye nesifo senhliziyo esizalwa naso nazo zivamile.

Kodwa nansi into, ayikho ikhambi le-Noonan Syndrome. Kodwa ungakhathazeki! Udokotela wakho angakunikeza isiqondiso osidingayo ukuze ugcine ingane yakho iphilile ngangokunokwenzeka. Bangasebenza nawe ukuvimbela noma ukuthola izinkinga ezingase zivele ngenxa yalesi simo. Khona-ke ingane yakho ingaphila impilo egcwele, esebenzayo .

Ubani othola lesi simo? Sivame kangakanani?

I-Noonan Syndrome yisimo esingaba khona lapho umuntu ezalwa. Asikwazi ukubikezela ukuthi ubani ozosithola nokuthi ubani ongeke asithole. Kodwa-ke, ngokwezibalo, cishe abantu abangu-50% abane-Noonan Syndrome bazuza lesi simo komunye wabazali babo. Ezimweni eziningi, umuntu one-Noonan Syndrome unethuba elingu-50% lokusidlulisela enganeni yakhe.

I-Noonan Syndrome iyisifo esivame kakhulu sofuzo . Okusho ukuthi, sivame kakhulu kunezinye izifo ezingavamile zofuzo. Uma sikhuluma nje, kubikwa ukuthi phakathi komuntu oyedwa kwabayi-1,000 no-2,500 bangaba nalesi simo.

Yini ebangela i-Noonan Syndrome?

Lesi simo sibangelwa kakhulu ukuntuleka kwama-enzyme asiza izicubu zomzimba wethu ukuba zikhule futhi zikhule.Kubangelwa izinguquko ezakhiweni ezithile zofuzo (ukuguqulwa kwezakhi zofuzo). Ngokukhethekile, amaprotheni akhiqizwa yilezi zakhi zofuzo ezishintshiwe ahlala esebenza isikhathi eside kunalokho okufanele. Lokhu kuvimbela amangqamuzana ekukhuleni nasekuhlukaneni kahle.

Kunezindlela ezimbili lapho i-Noonan Syndrome ingenzeka khona:

• Ifa: Ingane izuza lesi simo njengefa komunye wabazali.
• Ukuguquka kwezakhi zofuzo okungahleliwe: Isimo esenzeka ngenxa yoshintsho olusha lwezakhi zofuzo, ngaphandle kokuba noma ubani emndenini abe nalesi simo ngaphambili.

Ukuhlolwa kwezakhi zofuzo kwamanje kungabona ukungalingani kwezakhi zofuzo kubantu abangaba ngu- 80% abane-Noonan Syndrome. Kodwa-ke, abacwaningi abakayazi imbangela eqondile yalesi simo kubantu abasele.

Ingabe zikhona ezinye izimo ezifana ne-Noonan Syndrome?

Yebo, i-Noonan Syndrome yisimo esiseqenjini lezifo ezihlobene ezibizwa ngokuthi i-RASopathies . Zonke lezi zifo zibangelwa ukukhubazeka ngendlela efanayo naleyo amaseli akhula futhi akhula ngayo. Ngakho-ke, izimpawu zazo zifana kakhulu.

Ezinye izifo ezingaphansi kwesigaba se-'RASopathies' yilezi:

• Isifo senhliziyo nobuso
• I-Costello syndrome
• Uhlobo 1 lwe-Neurofibromatosis (NF1)
• I-Legius syndrome
• I-Noonan syndrome enama-lentigines amaningi (eyayaziwa ngokuthi i-LEOPARD syndrome)
• I-Turner syndrome

Ziyini izimpawu ze-Noonan Syndrome?

Izimpawu ze-Noonan Syndrome zingahluka kuye ngomuntu nomuntu. Abanye abantu banezimpawu ezincane kakhulu, kanti abanye banezimpawu ezinzima nezisongela impilo. Kuya ngokuthi iyiphi ingxenye yomzimba wengane ethintekile. Izimpawu eziningi ziqala ngesikhathi ingane isakhula esibelethweni, noma zivele ngaphambi kokuba ingane ibe neminyaka eyi-11 ubudala .

Izici zobuso ezibonakalayo

Izici zobuso ezibonakala ezinganeni ezine-Noonan Syndrome zingase ziphele kancane kancane njengoba ingane ifinyelela ebudaleni . Okusho ukuthi, zingase zingasabonakali kahle njengoba zazinjalo ekuqaleni. Lezi zici zingafaka:

• Ukuba nebunzi eliphakeme .
• Ukuba nomsele ojulile phakathi kodebe olungaphezulu.
• Ijwabu leso eligobile (i-ptosis).
• Inekhala eliyisicaba kanye nesihloko esibanzi.
• Ama-earlobes abekwe phansi kunokuvamile.
• Amehlo aluhlaza okwesibhakabhaka noma aluhlaza okotshani.
• I-Strabismus yisimo lapho ibanga phakathi kwamehlo likhula khona futhi amehlo ethambekele phansi, ngezinye izikhathi ephendukelana.

Ezinye izici zomzimba

Ngaphezu kwezici zobuso, kunezinye izici eziningana ezivamile zomzimba:

• Ukuvuvukala kweminwe noma amathe ezinyawo.
• Izinzipho ezinesimo noma umbala ongavamile.
• Intamo emfushane kanye nomugqa wezinwele ophansi ngemuva kwentamo, mhlawumbe kanye ne-webbing ezinhlangothini zentamo.
• Ubufushane bomzimba (ubufushane bokuphakama ngokweminyaka).
• Isifuba esishonile (i-pectus excavatum) noma ithambo lesifuba eliphumile (pectus carinatum).

Isifo senhliziyo

Izingane eziningi ezine-Noonan Syndrome zingase zibe nesifo senhliziyo esizalwa naso . Ezinye izingane zingase zidinge ukwelashwa ngokushesha kwalesi sifo senhliziyo. Ezinye zingase zingabi nezimpawu kuze kube yilapho sezikhulile. Izifo zenhliziyo ezivame kakhulu yilezi:

• Iphutha le-septal ye-Atrial.
• I-hypertrophic cardiomyopathy.
• I-stenosis yemithambo yephaphu.

Ezinye izinkinga ezingaba khona

Ngaphezu kwalokhu, i-Noonan Syndrome ingabangela ezinye izinkinga eziningana:

• Ubunzima bokuphefumula, isibonelo, ngenxa yokuthamba kwe-larynx (laryngomalacia).
• I-Lymphedema (ukuqongelela koketshezi lwe-lymph ezingalweni noma emilenzeni).
• Ukulibaziseka kokukhula .
• Ukopha kakhulu kunokujwayelekile noma ukuklwebheka kalula.
• Ubunzima bokudla ngesikhathi sobuntwana.
• Amasende angakafiki kubafana. Uma engelashwa, lokhu kungathinta izinkinga zokuzala.
• I-Scoliosis.
• Izinkinga zokubona noma ukukhubazeka kokuzwa (ukukhubazeka kokuzwa).
• Ukukhubazeka kokuzalwa okuhlobene nezinso.

Yiziphi ezinye izinkinga ezihlobene ne-Noonan Syndrome?

Izingane eziningi ezine-Noonan Syndrome zikhula kancane kunokujwayelekile njengoba zifika ebusheni. Kodwa-ke, zingase zizalwe zinobude obujwayelekile. Cishe u-25% unenkinga yokufunda. Inani elincane lazo lingase libe nokukhubazeka kwengqondo. Phakathi kuka-10% no-15% wezingane ezine-Noonan Syndrome zingadinga imfundo ekhethekile. Lesi simo singase sibangele nokubambezeleka kokukhula, izinkinga zokuziphatha, noma ukuphazamiseka kwenkulumo.

Ezinye izingane ezine-Noonan Syndrome ziba ne -juvenile myelomonocytic leukemia (JMML) , uhlobo olungavamile lwe-leukemia oluvela ebuntwaneni.Ingozi yokuba nomdlavuza webele noma eminye imidlavuza yezingane inganda kancane. Kodwa-ke, kucatshangwa ukuthi ingozi iyonke ingama- 4% uma umuntu eneminyaka engama-20. Ngakho-ke, khumbula, ingozi iphansi kakhulu .

I-Noonan Syndrome ihlolwa kanjani?

Udokotela wakho angase asole i-Noonan Syndrome ngemva kokuhlolwa ngokomzimba nokubuyekezwa kwezimpawu zengane yakho. Ukuze aqinisekise ukuxilongwa nokukhipha ezinye izimo, udokotela wakho angase ancome ukuhlolwa kwezakhi zofuzo .

Kungenziwa ezinye izivivinyo eziningana zalokhu:

• Ukuhlolwa kokubalwa kwegazi okuphelele (i-CBC).
• I-X-ray yesifuba.
• I-CT scan.
• I-echocardiogram ukuhlolwa okuhlola ukusebenza kwenhliziyo.
• Ukuhlolwa kwe-EKG (i-Electrocardiogram (EKG)).
• Ukuhlolwa kwe-ultrasound.

Ingabe ikhona ikhambi le-Noonan Syndrome?

Cha, ayikho ikhambi le-Noonan Syndrome. Kodwa ungakhathazeki! Kunezindlela zokwelapha ezisebenzayo ezingakusiza wena nengane yakho ukuthi nilawule izimpawu.

Iphathwa kanjani i-Noonan Syndrome?

Ithimba lezokwelapha lengane yakho lizokwakha uhlelo lokwelapha i-Noonan Syndrome ngokusekelwe ezimpawini zengane yakho kanye nobunzima bazo. Ingane yakho ingathola ukwelashwa okufana nalokhu:

• Amadivayisi okusiza: njengezibuko noma izinsiza zokuzwa.
• Ukwelapha ngokuziphatha noma ngenkulumo .
• Ukusekelwa kwezemfundo kokukhubazeka kokufunda.
• Imithi yesifo senhliziyo sengane, izinkinga zokopha, noma ukukhula kancane .
• Ukwelashwa ngama-hormone okukhula.
• Ukwelashwa okusekelayo njengokwelashwa kokucindezela, okunikeza impumuzo ezimweni ezifana ne-lymphedema.

Kwezinye izimo, udokotela wakho angase akuncome ukuhlinzwa . Khumbula, ukutholakala kusenesikhathi kubalulekile ukuze uthole ukwelashwa okuphumelelayo kanye nokunakekelwa okulandelayo.

Ubani ongafakwa eqenjini lokwelapha i-Noonan Syndrome yengane yami?

Ngaphezu kodokotela wezingane, ithimba lezokwelapha elinakekela impilo yengane yakho lingafaka ochwepheshe abanjengalaba:

• Uchwepheshe wezokwelapha ngemithambo yegazi.
• Udokotela ochwepheshe ohlelweni lwezinzwa (ubuchopho, umgogodla, kanye nemizwa) (udokotela wezinzwa).
• Udokotela Wezifo Zomdlavuza.
• Udokotela wamehlo.
• Isazi sezakhi zofuzo.
• Udokotela wenhliziyo.
• Udokotela we-Endocrinologist.
• Udokotela Wezinzwa.
• Udokotela wesikhumba (uchwepheshe wesikhumba, izinwele, kanye nezinzipho).

Ithimba lakho lokunakekela lizoncoma ukwelashwa okufanele kakhulu kwengane yakho. Lizophinde liqaphe isimo sengane yakho futhi lenze noma yiziphi izinguquko ezidingekayo emithini noma ohlelweni lokwelashwa, kuye ngesimo sengane kanye nanoma yimiphi imiphumela emibi.

Ingabe kukhona engingakwenza ukuze nginciphise ingozi yengane yami ye-Noonan Syndrome?

Cha. Akukho ongakwenza ukunciphisa ingozi yokuba ingane yakho ibe ne-Noonan Syndrome. Ibangelwa ukuguquka kwezakhi zofuzo . Kodwa-ke, uma othile emndenini wakho ene-Noonan Syndrome, ungakhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ngaphambi kokukhulelwa, okungenziwa ngesikhathi sokukhulelwa .

Liyini ikusasa labantu abane-Noonan Syndrome?

Iningi labantu abane-Noonan Syndrome baphila impilo enempilo nezimele.

Ithimba lokunakekela ingane yakho lizosebenzisana nawe ukulawula izimpawu zengane yakho nokuvimbela izinkinga. Ngakho-ke, kubalulekile ukuhlala unethemba.

Kufanele uthole nini iseluleko sezokwelapha nge-Noonan Syndrome?

Uma i-Noonan Syndrome ibangela isifo senhliziyo esibi kakhulu, ukuhlinzwa kanye nokuqapha okuqhubekayo kungadingeka ukuze kugcinwe ingane yakho iphilile futhi iphephile. Udokotela wakho angaxoxa nawe ngezinketho zokwelapha ezisheshayo nezesikhathi eside.

Kuvamile ukuzizwa wesaba lapho usana noma ingane ekhulayo ithola ukuxilongwa kwezokwelapha. Kodwa-ke, izingane eziningi ezitholakale zine-Noonan Syndrome zinezimpawu ezincane . Futhi ziyaqhubeka nokuphila impilo egcwele, esebenzayo. Khuluma nodokotela wakho mayelana nokwelashwa okuphumelelayo noma izinketho zokunakekelwa okuqhubekayo ezenzelwe izidingo zengane yakho. Ukwelashwa kusenesikhathi kungasiza ekunciphiseni ukukhathazeka kwakho futhi kusize ingane yakho ifinyelele imiphumela emihle kakhulu yezempilo.

Masikhumbule izinto ezibaluleke kakhulu (Umyalezo Wokuya Ekhaya)

Kulungile, ake siphinde sixoxe ngamaphuzu abaluleke kakhulu kulokho esikhulume ngakho:

• I-Noonan Syndrome iyisimo esibangelwa ufuzo .
• Izimpawu zalokhu ziyahlukahluka , ezinye zincane, ezinye zinzima kakhulu.
• Ungabona izinto ezifana nezici zobuso ezikhethekile, ubude obufushane, kanye nesifo senhliziyo.
• Nakuba kungekho ukwelashwa okuphelele, kunezindlela zokwelapha ezisebenzayo ezingalawula izimpawu .
• Kubaluleke kakhulu ukuxilonga lesi sifo bese uqala ukwelashwa kusenesikhathi .
• Ithimba lodokotela abangochwepheshe lizosiza ingane yakho.
• Izingane eziningi ezine-Noonan Syndrome ziphila impilo ejabulisayo nesebenzayo .

Ngakho-ke, uma ingane yakho inalezi zimpawu, ungesabi, bonana nodokotela ngokushesha okukhulu bese uthola iseluleko. Bazokunikeza lonke usizo oludingayo.

I- Noonan syndrome, izifo zofuzo, isifo senhliziyo esizalwa naso, ukubambezeleka kokukhula, izici zobuso, impilo yezingane, ukuhlolwa kofuzo