Iyini i-Noonan Syndrome? Ungesabi, masiqaphele lokhu

Wake waphawula into engavamile ebusweni bomntwana wakho? Mhlawumbe amehlo akhe aqhelelene kancane, noma intamo yakhe imfushane kancane... Uma ukukhula kwengane yakho kubonakala kuhamba kancane kanye nalezi zinto, isizathu kungaba yisimo ongakaze usizwe esibizwa ngokuthi 'i-Noonan Syndrome.' Ungakhathazeki, lokhu akuyona into abantu abaningi abayaziyo. Ngakho ake sixoxe ngakho namuhla.

Iyini ngempela i-Noonan Syndrome?

Kalula nje, i-Noonan syndrome yisimo sofuzo umntwana azalwa naso. Lokhu kungathinta ukukhula kwezingxenye ezahlukene zomzimba wengane. Ezinye izingane zinezimpawu ezincane kakhulu ngenxa yalesi simo. Okusho ukuthi, azibonakali ngaphandle. Kodwa-ke, ezinye izingane zingase zibe nezinkinga zempilo ezinkulu kakhulu.

Kulesi simo, ingane ingaba nezici ezithile zobuso (isibonelo, ibunzi elibanzi, amehlo avulekile), ubude obufushane (ubude obufushane), izinkinga zamehlo, kanye nokukhubazeka kwenhliziyo okuzalwa nakho.

Ubani othola lesi simo? Sivame kangakanani?

I-Noonan syndrome yisimo esingaba khona lapho umuntu ezalwa. Asibangelwa yiphutha lomuntu.

• Ifa elivela kubazali: Cishe u-50% wezingane ezine-Noonan syndrome zinomzali onalesi simo. Lokhu kusho ukuthi uma noma yimuphi umzali enalesi simo, ingane inethuba elingu-50% lokusithola njengefa.
• Ukwenzeka okungahleliwe: Ngezinye izikhathi, lesi simo singase senzeke ngenxa yoshintsho olungahleliwe (ukuguquka okungahleliwe) ezizakhi zofuzo zengane, ngaphandle kokuba noma ubani emndenini abe nalesi simo.

Lesi akusona isimo esingavamile njengoba ungase ucabange. Ngokwesilinganiso, ingane eyodwa kweziyi-1,000 kuya kweziyi-2,500 ezizalwayo ithintwa yilesi simo.

Yini ebangela i-Noonan syndrome?

Kunezakhi zofuzo ezithile ezitshela izicubu zomzimba wethu ukuthi zikhule futhi zahlukane. I-Noonan syndrome ivame ukubangelwa izinguquko ('ukuguqulwa kwezakhi zofuzo') kulezi zakhi zofuzo. Ngenxa yalolu shintsho, amaprotheni akhiqizwa yilezo zakhi zofuzo ahlala esebenza isikhathi eside kunalokho okufanele. Kufana nokukhanya okuhlala kuvuliwe esikhundleni sokucima lapho kufanele kucime khona. Lokhu kuphazamisa ukukhula okuvamile nokuhlukana kwamaseli.

Ingabe zikhona ezinye izimo ezifana nalezi?

Yebo, i-Noonan syndrome yisimo esiseqenjini lezifo ezibizwa ngokuthi 'i-RASopathies'. Ezinye izifo kuleli qembu nazo zinezimbangela ezifanayo zofuzo. Ngakho-ke, izimpawu zazo zivame ukufana.

Nazi ezinye zezimo ezinjalo:

• "Isifo senhliziyo nobuso"
• I-'Costello syndrome'
• "I-Neurofibromatosis uhlobo 1 (NF1)"
• `I-Legius syndrome`
• 'I-Turner syndrome'

Ziyini izimpawu ze-Noonan syndrome?

Izimpawu zingahluka kakhulu kusuka komunye umntwana kuya komunye. Ezinye izingane zingase zibe nezimpawu ezincane kakhulu, kanti ezinye zingase zibe nezimpawu ezinzima nezisongela ukuphila. Izimpawu eziningi ziqala esibelethweni noma zivele ngaphambi kweminyaka eyi-11.

Kodwa into enhle ukuthi njengoba ingane ikhula, izici eziningi zobuso ezihlukile ziyanyamalala kancane kancane.

Ukuze kube lula ukuqonda, ake sihlukanise lezi zici zibe amathebula amaningana.

Izinkinga ezihlobene nenhliziyo

Izingane eziningi ezine-Noonan syndrome zingase zibe nesifo senhliziyo esizalwa naso. Ezinye izingane zingase zidinge ukwelashwa ngokushesha . Ezinye izingane zingase zibe nesifo senhliziyo kamuva ekuphileni. Izimo zenhliziyo ezivamile zifaka:

• Imbobo phakathi kwe-atria yenhliziyo (i-atrial septal defect).
• Ukuqina kwemisipha yenhliziyo (i-hypertrophic cardiomyopathy).
• I-stenosis yemithambo yamaphaphu .

Ezinye izinkinga zempilo ezingaba khona

• Ubunzima bokuphefumula: Isibonelo, izimo ezifana ne-'laryngomalacia'.
• Ukuvuvukala kwezandla nezinyawo: Ukuqongelela koketshezi (i-lymphedema) ngenxa yenkinga ohlelweni lwe-lymphatic.
• Ukulibaziseka kokukhula .
• Ukopha noma ukuphuka okulula .
• Ubunzima bokuncelisa ngesikhathi sobuntwana.
• Amasende angakafiki kubafana . Uma engelashwa, lokhu kungaholela ekungazalini esikhathini esizayo.
• I-Scoliosis .
• Ukukhubazeka kokubona noma ukuzwa.
• Ukukhubazeka kokuzalwa okuhlobene nezinso.

Yiziphi ezinye izinkinga ezihambisana nalokhu?

Izingane eziningi ezine-Noonan syndrome zikhula kancane kunokujwayelekile, ikakhulukazi ngesikhathi sokuthomba. Futhi, cishe ama-25% ezingane angaba nokukhubazeka kokufunda. Kodwa-ke, inani elincane kakhulu elinokukhubazeka kwengqondo. Lokhu kusho ukuthi izingane eziningi zingafunda ngokujwayelekile. Cishe ama-10-15% ezingane angadinga ukwesekwa okukhethekile kwezemfundo.

Ngaphezu kwalokho, ezinye izingane zinengozi encane kakhulu yokukhula kwesifo se-leukemia ebuntwaneni esingavamile esibizwa ngokuthi i-'juvenile myelomonocytic leukemia (JMML)' noma eminye imidlavuza yezingane. Kodwa ungakhathazeki, le ngozi iphansi kakhulu, ingu -4% uma uneminyaka engu-20.

Udokotela ukuxilonga kanjani lokhu? (Ukuxilongwa)

Udokotela wakho angase asole i-Noonan syndrome ngemva kokuhlola ingane yakho ngokomzimba nokubuza ngezimpawu zakho. Ukuze aqinisekise ukuxilongwa nokukhipha ezinye izimo, udokotela wakho angase acele ukuhlolwa okuhlukahlukene.

Lezi zivivinyo zingafaka:

• Inani legazi eliphelele (i-CBC)
• I-X-ray yesifuba
• Ukuskena kwe-CT
• Ukuhlolwa kwe-'Echocardiogram' okuhlola ukusebenza kwenhliziyo
• Ukuhlolwa kwe-`Electrocardiogram (EKG)` okuhlola ukusebenza kukagesi kwenhliziyo.
• Ukuhlolwa kofuzo
• Ukuskena kwe-Ultrasound (`I-Ultrasound`)

Ingabe ikhona indlela yokwelapha i-Noonan syndrome?

Akukho ukwelashwa kwe-Noonan syndrome okwamanje. Kodwa-ke, kunezindlela eziningi zokwelapha ezisebenzayo ezingasiza ingane yakho ukuthi ilawule izimpawu zayo futhi iphile impilo enempilo .

Ithimba lezokwelapha elilapha ingane yakho lizokwakha uhlelo lokwelapha olusekelwe ezimpawini zengane yakho kanye nobunzima bazo. Uhlelo lungafaka:

• Amadivayisi okusiza: Izinto ezifana nezibuko zamehlo noma izinsiza zokuzwa.
• Ukwelapha ngokuziphatha noma ngenkulumo .
• Ukusekelwa kwezemfundo: Ukunikeza ukwesekwa okukhethekile kokukhubazeka kokufunda.
• Imithi: Imithi yokwelapha izinkinga zenhliziyo, ukulawula ukopha, noma ukuthuthukisa ukukhula okuhamba kancane.
• Ukwelashwa ngama-hormone okukhula .
• Ukwelashwa okungeziwe: Izinto ezifana nokwelashwa kokucindezela kwe-lymphedema (ukuvuvukala).

Kwezinye izimo, udokotela wakho angase akuncome ukuhlinzwa. Ukuxilongwa kusenesikhathi kubalulekile ukuze ukwelashwa okuphumelelayo nokulandelwa.

Ikusasa liyoba njani? Futhi lokhu kungavinjelwa yini?

Lokhu kuyinto ebaluleke kakhulu. Iningi labantu abane-Noonan syndrome baphila impilo enempilo nezimele. Ithimba lezokwelapha lengane yakho lizokusiza ukuphatha izimpawu zengane yakho futhi livimbele izinkinga.

Njengoba lesi simo sibangelwa ushintsho lwezakhi zofuzo, akukho esingakwenza ukusivimbela. Kodwa-ke, uma othile emndenini wakho ene-Noonan syndrome, ungakhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ngaphambi kokubeletha.

Kuvamile ukuzizwa wesaba lapho ingane ithola ukuxilongwa okunje. Kodwa khumbula, iningi lezingane ezine-Noonan syndrome zinezimpawu ezincane. Zingaphila impilo egcwele futhi esebenzayo. Ngakho-ke khuluma nodokotela wakho mayelana nokwelashwa okungcono kakhulu enganeni yakho. Ukuqala ukwelashwa kusenesikhathi kungasiza ingane yakho ibe nemiphumela emihle kakhulu yezempilo.