Lefu la Noonan

Noonan syndrome ke lefu le hlahang ho tloha tsoalong (congenital) le etsang hore likarolo tse ngata tsa 'mele li hole ka mokhoa o sa tloaelehang. Maemong a mang e fetisoa ka malapa (a futsitsoeng).

Matšoao a Noonan a hokahane le liphoso liphatseng tsa lefutso tse 'maloa. Ka kakaretso, liprotheine tse ling tse kenyelletsang kholo le kholo li fetoha tse fetelletseng ka lebaka la liphetoho tsena tsa lefutso.

Matšoao a Noonan ke boemo bo ka sehloohong ba autosomal. Sena se bolela hore ke motsoali a le mong feela ea lokelang ho fetisetsa lefutso le sa sebetseng hore ngoana a be le lefu lena. Leha ho le joalo, linyeoe tse ling li kanna tsa se futsoe.

Matšoao a kenyelletsa:

• Ho lieha ho kena bonneng kapa bosaling
• Ho shebella tlase kapa mahlo a sephara
• Ho lahleheloa ke kutlo (ho fapana)
• Ditsebe tse tlase kapa tse bopehileng ka tsela e sa tloaelehang
• Bokooa bo bobebe ba kelello (ke linyeoe tse ka bang 25% feela)
• Ho phunya mahlo (ptosis)
• Seemo se sekgutshwane
• Pipi e nyane
• Mabele a sa lekanyetsoang
• Sebopeho se sa tloaelehang sa sefuba (hangata sefuba se koahetsoeng se bitsoang pectus excavatum)
• Webed le molala o hlahang o mokgutshwane

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Sena se ka bontša matšoao a mathata a pelo a lesea ho tloha ha le hlaha. Tsena li ka kenyelletsa pulmonary stenosis le sekoli sa atrial septal.

Liteko li ipapisitse le matšoao, empa li ka kenyelletsa:

• Palo ea liplatelete
• Teko ea ntlha ea ho koala mali
• ECG, x-ray ea sefuba, kapa echocardiogram
• Liteko tsa ho utloa
• Maemo a kholo ea li-hormone

Ho etsa liteko tsa lefutso ho ka thusa ho fumana lefu lena.

Ha ho na kalafo e khethehileng. Mofani oa hau o tla fana ka maikutlo a kalafo ho imolla kapa ho laola matšoao. Hormone ea kholo e sebelisitsoe ka katleho ho alafa bolelele bo khuts'oane ho batho ba bang ba nang le lefu la Noonan.

Noonan Syndrome Foundation ke sebaka seo batho ba sebetsanang le boemo bona ba ka fumanang tlhaiso-leseling le lisebelisoa.

Mathata a ka kenyelletsa:

• Ho tsoa mali kapa ho senya ka tsela e sa tloaelehang
• Ho aha mokelikeli ka har'a lisele tsa 'mele (lymphedema, cystic hygroma)
• Ho hloleha ho atleha maseeng
• Lefuemia le mefuta e meng ea kankere
• Ho se its'epe
• Ho hloka thari ho banna haeba litlhahlobo ka bobeli li sa ratehe
• Mathata le sebopeho sa pelo
• Bolelele bo bolelele
• Mathata a sechaba ka lebaka la matšoao a mmele

Boemo bona bo ka fumanoa nakong ea litlhahlobo tsa masea tsa pele. Hangata ho hlokahala setsebi sa liphatsa tsa lefutso ho fumana lefu la Noonan.

Banyalani ba nang le nalane ea lelapa ea lefu la Noonan ba ka batla ho nahana ka tlhabollo ea lefutso pele ba ba le bana.

• Pectus e hlahisitsoeng

Cooke DW, Divall SA, Radovick S. Khōlo e tloaelehileng le e sa tloaelehang ea bana. Ka: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, bahlophisi. Buka ea Williams ea Endocrinology. La bo14 la ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 25.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.

MOSEBETSI OA MOSEBETSI: Mitchell AL. Bothata ba ho tsoaloa. Ka: Martin RJ, Fanaroff AA, Walsh MC, bangoli. Fanaroff le Phekolo ea Martin ea Neonatal-Perinatal. 11th ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 30.