Noonan syndrome

Noonan syndrome o se faʻamaʻi o loʻo i ai mai le fanau mai (fanau mai) lea e mafua ai le tele o vaega o le tino e atiaʻe le masani ai. I nisi tulaga e pasi i aiga (tofi).

Noonan syndrome e fesoʻotaʻi ma faaletonu i le tele o genes. I se tulaga lautele, o ni polotini e aʻafia i le tuputupu aʻe ma le atiaʻe ua soʻona faʻagaeʻetia ona o se iʻuga o nei gafa suiga.

Noonan syndrome o se tuʻaiga autosomal malosi. O lona uiga naʻo le tasi matua e tatau ona pasi i lalo le gafa le gafa mo le tamaititi ia maua le faʻamaʻi. Peitai, o nisi mataupu ono le tuufaasolo mai.

Faʻailoga aofia ai:

• Toloai talavou
• I lalo-slanting pe lautele-seti mata
• Faʻalogo leiloa (eseese)
• Laʻititi maualalo pe le masani ona faʻatusa taliga
• Maʻaleʻale mafaufau faʻapitoa (naʻo i le 25% o mataupu)
• Sagging laumata (ptosis)
• Tulaga puupuu
• Laʻitiiti
• Vaʻaia le faʻavae
• Le foliga masani o le fatafata (o le tele o taimi o le sunken chest called pectus excavatum)
• 'Upega tafaʻilagi ma puʻupuʻu faʻaaliga ua

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino. Atonu e faʻaalia ai ni faʻailoga o faʻafitauli i le fatu na fanau mai le pepe. E mafai ona aofia ai le pulmonary stenosis ma le atrial septal defect.

O faʻataʻitaʻiga e faʻamoemoeina i faʻailoga, ae mafai ona aofia ai:

• Faitauga peleti
• Tofotofoga toto mafuaʻaga tofotofoga
• ECG, pusa x-ray, poʻo le echocardiogram
• Suʻega o suʻega
• O le tuputupu ae o le maualuga o le homone

Ole suʻega ole genetic e mafai ona fesoasoani ile faʻailoaina o lenei faʻamaʻi.

E leai se faʻapitoa togafitiga. O le a fautuaina e lau tautua ni togafitiga e faʻamama ai pe puleaina faʻailoga. O le tuputupu ae o le homone ua faʻaaogaina ma le manuia e togafitia ai le pupuʻu o le maualuga i nisi tagata e maua i le Noonan syndrome.

O le Noonan Syndrome Foundation o se nofoaga e mafai ai e tagata o feagai ma lenei tulaga ona maua faʻamatalaga ma alagaʻoa.

Faʻafitauli e ono aofia ai:

• E le masani ai le tafetoto poʻo le totolia
• Fausiaina o suavai i aano o le tino (lymphedema, cystic hygroma)
• Le mafai ona olaola i pepe
• Leukemia ma isi kanesa
• Maualalo faʻalagolago ia te oe lava
• Le faʻamalositino i aliʻi pe a fai o suʻega uma e lua e le faʻaleagaina
• Faʻafitauli ma le faʻavaeina o le fatu
• Maualuga puupuu
• Faʻafitauli lautele ona o faʻailoga o le tino

E mafai ona maua lenei tulaga i taimi o suʻega o pepe. E masani ona manaʻomia se kenera e faʻamaonia le Noonan syndrome.

O ulugaliʻi ma le aiga talaʻaga o Noonan syndrome atonu e manaʻo e mafaufau i fautuaga faʻafanua ae leʻi faia se fanau.

• Pectus excavatum

Cooke DW, Divall SA, Radovick S. O le tuputupu aʻe masani ma le paʻu i tamaiti. I: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Tusitusiga o Endocrinology. 14th lomiga. Filatelefia, PA: Elsevier; 2020: chap 25.

Madan-Khetarpal S, Arnold G. Genetic faʻafitauli ma tulaga faʻamaʻi. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ma Davis 'Atlas o Pediatric Physical Diagnosis. 7th ed. Filatelefia, PA: Elsevier; 2018: mata 1

Mitchell AL. Faʻasolosolo faʻasolitulafono tamaititi. I le: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff ma Martin's Neonatal-Perinatal Faʻafomaʻi. 11th lomiga. Filatelefia, PA: Elsevier; 2020: chap 30.