Isifo sikaNoonan

Isifo i-Noonan syndrome sisifo esivela ekuzalweni (esizelwe) esenza ukuba amalungu amaninzi omzimba akhule ngokungaqhelekanga. Ngamanye amaxesha iyadluliselwa kwiintsapho (ezizuzwe njengelifa).

I-Noonan syndrome inxulunyaniswa neziphene kwiijeni ezininzi. Ngokubanzi, iiproteni ezithile ezibandakanyeka ekukhuleni nasekukhuleni ziye zisebenze kakhulu ngenxa yokutshintsha kwemfuza.

I-Noonan syndrome yimeko ephezulu ye-autosomal. Oku kuthetha ukuba ngumzali omnye kuphela ekufuneka adlulise uhlobo olungasebenziyo ukuze umntwana abe nesifo. Nangona kunjalo, ezinye iimeko azinakufunyanwa njengelifa.

Iimpawu zibandakanya:

• Ukulibaziseka kokufikisa
• Ukuthambeka okuphantsi okanye ukuseta okubanzi
• Ukuphulukana nokuva (kuyahluka)
• Iindlebe ezisezantsi okanye ezimile ngendlela engaqhelekanga
• Ukukhubazeka kwengqondo okuphakathi (kuphela malunga ne-25% yamatyala)
• Ukujikisa iinkophe (ptosis)
• Isiqu esifutshane
• Ipenisi encinci
• Amatyhalarha angaphantsi
• Isimo esingaqhelekanga sesifuba (amaxesha amaninzi isifuba esitshisiweyo esibizwa ngokuba yi-pectus excavatum)
• I-Webbed kunye nentamo ebonakalayo emfutshane

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Oku kunokubonisa iimpawu zentliziyo enesifo ukusukela ekuzalweni. Oku kunokubandakanya i-pulmonary stenosis kunye ne-septal septal defect.

Uvavanyo luxhomekeke kwiimpawu, kodwa lunokubandakanya:

• Ubalo lweplatelet
• Uvavanyo lwezinto zokuvala igazi
• I-ECG, isifuba x-ray, okanye i-echocardiogram
• Uvavanyo lokuva
• Amanqanaba okukhula kwehomoni

Ukuvavanywa kwemfuza kunokunceda ukufumanisa esi sifo.

Akukho lonyango luthile. Umboneleli wakho uya kuphakamisa unyango ukunciphisa okanye ukulawula iimpawu. Ihomoni yokukhula isetyenzisiwe ngempumelelo ukunyanga ukuphakama okufutshane kwabanye abantu abaneNoonan syndrome.

I-Noonan Syndrome Foundation yindawo apho abantu abajongana nale meko banokufumana ulwazi kunye nezixhobo.

Iingxaki zinokubandakanya:

• Ukopha ngokungaqhelekanga okanye ukugruzuka
• Ukwakhiwa kolwelo kwizicubu zomzimba (i-lymphedema, icystic hygroma)
• Ukusilela ukuphumelela kwiintsana
• Ileukemia neminye imihlaza
• Ukuzijongela phantsi
• Ukungachumi emadodeni ukuba zombini iimvavanyo azichazwanga
• Iingxaki ngokwakhiwa kwentliziyo
• Ukuphakama okufutshane
• Iingxaki zentlalo ngenxa yeempawu zomzimba

Le meko inokufunyanwa ngexesha leemviwo zokuqala zosana. I-geneticist ihlala ifuneka ukuze ichaze isifo seNoonan.

Amaqabane anembali yosapho yesifo sikaNoonan anokufuna ukuthathela ingqalelo iingcebiso zofuzo ngaphambi kokuba abe nabantwana.

• I-Pectus excavatum

UCooke DW, iDivall SA, uRadovick S. Ukukhula kwesiqhelo kunye nokuchaphazeleka kwabantwana. Ku: UMelmed S, uAuchus RJ, uGoldfine AB, uKoenig RJ, uRosen CJ, ii-eds. Incwadi ebhaliweyo kaWilliam ye-Endocrinology. Umhla we-14. IPhiladelphia, PA: Elsevier; 2020: isahluko 25.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.

UMitchell AL. Ukungafani okuzalwa. Ku: UMartin RJ, uFanaroff AA, uWalsh MC, ii-eds. UFanaroff kunye noMartin's Neonatal-Perinatal Medicine. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 30.