I-Noonan syndrome

I-Noonan syndrome yisifo esivele kusukela ekuzalweni (esizalwa naso) esidala izingxenye eziningi zomzimba zikhule ngokungajwayelekile. Kwezinye izimo kudluliselwa emindenini (ezuzwe njengefa).

I-Noonan syndrome ixhunyaniswe nezici ezakhiweni zofuzo eziningana. Ngokuvamile, amaprotheni athile abandakanyeka ekukhuleni nasekuthuthukisweni asebenza ngokweqile ngenxa yalokhu kuguqulwa kwezakhi zofuzo.

I-Noonan syndrome yisimo esivelele se-autosomal. Lokhu kusho ukuthi umzali oyedwa kuphela okufanele adlulise phansi isakhi esingasebenzi ukuze ingane ibe nalesi sifo. Noma kunjalo, amanye amacala angahle angatholwa njengefa.

Izimpawu zifaka:

• Ukuthomba okulibazisekile
• Ukubheka phansi noma ukusetha okubanzi
• Ukulahlekelwa kokuzwa (kuyahlukahluka)
• Izindlebe ezisezingeni eliphansi noma ezimise ngokungajwayelekile
• Ukukhubazeka okuphakathi kwengqondo (kuphela kumacala angama-25%)
• Ukujikisa ijwabu leso (ptosis)
• Isiqu esifushane
• Umthondo omncane
• Amasende angehlisiwe
• Isimo esingajwayelekile sesifuba (imvamisa isifuba esishisiwe esibizwa nge-pectus excavatum)
• I-Webbed nentamo ebonakala isikhashana

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Lokhu kungakhombisa izimpawu zezinkinga zenhliziyo ingane ebinazo kusukela izelwe. Lokhu kungafaka i-pulmonary stenosis kanye ne-atrial septal defect.

Ukuhlolwa kuncike kwizimpawu, kepha kungafaka:

• Ukubalwa kweplatelet
• Ukuhlolwa kwesici sokuvala igazi
• I-ECG, i-x-ray yesifuba, noma i-echocardiogram
• Ukuhlolwa kokuzwa
• Amazinga ama-hormone okukhula

Ukuhlolwa kofuzo kungasiza ukuxilonga lesi sifo.

Akukho ukwelashwa okuqondile. Umhlinzeki wakho uzophakamisa ukwelashwa ukunciphisa noma ukuphatha izimpawu. I-hormone yokukhula isetshenziswe ngempumelelo ukwelapha ubude obufushane kwabanye abantu abane-Noonan syndrome.

INoonan Syndrome Foundation yindawo lapho abantu ababhekene nalesi simo bengathola khona ulwazi nezinsizakusebenza.

Izinkinga zingafaka:

• Ukopha okungavamile noma ukulimaza
• Ukwakhiwa koketshezi kwezicubu zomzimba (i-lymphedema, i-cystic hygroma)
• Ukwehluleka ukuchuma ezinganeni
• Umdlavuza wegazi neminye imidlavuza
• Ukuzenyeza
• Ukungabi nenzalo kwabesilisa uma womabili ama-testes engathandiswanga
• Izinkinga ngesakhiwo senhliziyo
• Ukuphakama okufushane
• Izinkinga zomphakathi ngenxa yezimpawu zomzimba

Lesi simo singatholakala ngesikhathi sokuhlolwa kwezinsana zisencane. I-geneticist ivame ukudingeka ukuthola i-Noonan syndrome.

Imibhangqwana enomlando womndeni weNoonan syndrome ingahle ifune ukucabangela ukwelulekwa ngezakhi zofuzo ngaphambi kokuba ibe nezingane.

• I-Pectus excavatum

ICooke DW, iDivall SA, uRadovick S. Ukukhula okujwayelekile nokungajwayelekile ezinganeni. Ku: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, abahleli. Incwadi kaWilliams ye-Endocrinology. Umhlaka 14. IPhiladelphia, PA: Elsevier; 2020: isahluko 25.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.

UMitchell AL. Okuzenzakalelayo kokuzalwa. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 30.