Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome o se tuputupu ae faʻaletonu e mafua lapoʻa tele tino, tele totoga, ma isi faʻailoga. O se tulaga fanau, o lona uiga o loʻo i ai i le taimi o le fanau mai. O faʻailoga ma faʻailoga o le faʻamaʻi e eseʻese mai le tasi tamaititi i le tamaititi.

Pepe mafai ona avea ma taimi faigata i pepe ma lenei faʻafitauli ona o le ono mafai:

• Maualalo suka suka
• O se ituaiga vao ua taʻua o le omphalocele (peʻa i ai)
• Se laulaufaiva lautele (macroglossia)
• Faateleina le aofaʻi o le tuputupu aʻe. O tuma ole Wilms ma hepatoblastomas o tuma ia e masani ai tamaiti ile faʻamaʻi lea.

Beckwith-Wiedemann syndrome e mafua mai i se le atoatoa i genes i luga o le chromosome 11. E tusa ma le 10% o mataupu e mafai ona pasi mai i aiga.

Faailoga ma faʻailoga o Beckwith-Wiedemann syndrome aofia ai:

• Tele lapoʻa mo se pepe fou
• Faailoga fanau mumu i muaulu poʻo mata mata (nevus flammeus)
• Fulu i taligofie taliga
• Laulaufaiva lapoʻa (macroglossia)
• Maualalo suka suka
• Manava pa puipui (umbilical hernia po omphalocele)
• Faalauteleina o nisi totoga
• Ova tele o le tasi itu o le tino (hemihyperplasia / hemihypertrophy)
• Tumana tuputupu aʻe, pei o Wilms tumors ma hepatoblastomas

O le tausi soifua maloloina o le a faia se faʻataʻitaʻiga tino e suʻe ai faʻailoga ma faʻailoga o Beckwith-Wiedemann syndrome. E masani ona lava lea e fai ai se faʻamaoniga.

Suʻega mo le faʻamaʻi aofia ai:

• Toto suʻega mo maualalo le suka suka
• Suesuega a le Chromosomal mo mea le masani ai ile chromosome 11
• Ultrasound o le manava

Tamaiti e maualalo le suka i le toto e mafai ona togafitia i vai e avatua i le alatoto (faʻaalu, IV). O nisi pepe meʻi manaʻomia ni vailaʻau poʻo seisi faʻataʻitaʻiga pe a fai e faʻaauau pea le suka i lalo ole toto.

Faʻaletonu i totonu o le manava puipui ono manaʻomia e faʻaleleia. Afai o le laulaufaiva faʻalauteleina e faigata ai ona manava pe 'ai, atonu e manaʻomia se taotoga. Tamaiti ma lapoʻa tele i le tasi itu o le tino e tatau ona vaʻaia mo se faʻaali tulivae (scoliosis). O le tamaititi e tatau foi ona vaʻavaʻaia totoʻa mo le atinaʻeina o tuma. O le siakiina o le tumama e aofia ai suʻega toto ma manava ultrasounds.

Tamaiti e maua i le Beckwith-Wiedemann syndrome e masani ona taʻimua i ni olaga masani. O loʻo manaʻomia nisi suʻesuʻega e atiaʻe ai ni faʻamatalaga mo se taimi umi.

O nei faʻalavelave e mafai ona tupu:

• Atinaʻeina o tuma
• Fafagaina faʻafitauli ona o le faʻalauteleina laulaufaiva
• Manava manava ona o le faʻalauteleina laulaufaiva
• Scoliosis ona o le hemihypertrophy

Afai e iai sau tamaititi e maua i le Beckwith-Wiedemann syndrome ma faʻafitauli faʻafitauli e tupu ai, valaʻau loa lau fomaʻi tamaiti.

E leai se iloa puipuia mo Beckwith-Wiedemann syndrome. O fautuaga faʻavae e ono taua mo aiga o loʻo manaʻomia le tele o a latou fanau.

• Beckwith-Wiedemann syndrome

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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

Sperling MA. Hypoglycemia. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 111.