Waardenburg syndrome

Waardenburg syndrome o se vaega o tuʻutuʻuga na tuʻufaʻatasia e aiga. O le faʻamaʻi e aofia ai le tutuli ma le paʻu paʻu, lauulu, ma le lanu o mata.

Waardenburg syndrome e masani ona maua mai o se uiga autosomal. Lona uiga e naʻo le tasi le matua e tatau ona pasi le kenera masei mo se tamaititi e aʻafia.

E fa ituaiga autu o Waardenburg syndrome. O le taʻatele o ituaiga I ma ituaiga II.

Ituaiga III (Klein-Waardenburg syndrome) ma le ituaiga IV (Waardenburg-Shah syndrome) e seasea maua.

O le tele o ituaiga o lenei syndrome mafua mai i le le atoatoa i ituaiga eseese. Tele o tagata e maua ile faʻamaʻi lenei e iai matua o loʻo maua ile faʻamaʻi, ae o faʻailoga ile matua e mafai lava ona ese mai i tamaiti o loʻo iai.

Faʻailoga e ono aofia ai:

• Laugutu laugutu (seasea)
• Paneta
• Tutuli (masani i faʻamaʻi II)
• Matua sesega lanumoana mata poʻo mata lanu e le fetaui (heterochromia)
• Paʻu lanu paʻu, lauulu, ma mata (vaega albinism)
• Faigata faʻasaʻoina soʻoga soʻoga
• E ono faʻaititia le faʻaaogaina o le atamai
• Lautele-seti mata (i le ituaiga ou)
• Paʻepaʻe papaʻe o lauulu po o le amataga efuefu o le lauulu

Laititi masani ituaiga o lenei maʻi ono mafua ai faʻafitauli i lima poʻo le manava.

O suʻega e mafai ona aofia ai:

• Audiometry
• Taimi o femalagaiga i le manava
• Biopsy a le kolone
• Suʻega ole gafa

E leai se faʻapitoa togafitiga. Faʻailoga o le a togafitia pe a manaʻomia. O meaʻai faʻapitoa ma vailaʻau e tausi ai le manava o loʻo faʻatonuina mo na tagata e maua i le maʻi papala. E tatau ona siaki totoʻa le faʻalogo.

E faʻasaʻo loa faʻafitauli ile faʻalogo, ole toʻatele o tagata e maua ile faʻamaʻi nei e tatau ona mafai ona ola i se olaga masani. O i latou e seasea maua i le faʻamaʻi atonu e i ai isi faʻalavelave.

Faʻafitauli e ono aofia ai:

• Manava manava manaʻomia e manaʻomia se vaega o le manava tele e aveʻesea
• Leiloa faʻalogo
• O oe lava e faʻafitauli, poʻo isi faʻafitauli e fesoʻotaʻi ma foliga vaaia
• Faʻapa'ū laʻititi le faʻagaioiga o le atamai (mafai, le masani ai)

Faʻamatalaga fesoasoani atonu e aoga pe a fai e iai sau talaʻaga aiga o Waardenburg syndrome ma fuafua e fai sau fanau. Valaʻau lau fomaʻi soifua maloloina mo se suʻega faʻalogo pe afai o oe poʻo lau tama e faʻalogo i le logonoa pe paʻu foʻi tau faʻalogo.

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

• Alalaupapa lautele nasal
• Lagona o le faʻalogo

Cipriano SD, Sone JJ. Faamaʻi Neurocutane I: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Faailoga Dermatological o Faamaʻi Faʻamaʻi. 5th ed. Filatelefia, PA: Elsevier; 2017: chap 40.

Kliegman RM, St.Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Faʻaletonu i le metabolism o amino acids. 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 103

Milunsky JM Waardenburg syndrome ituaiga I. GeneReviews. 2017. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. Faʻafouina ia Me 4, 2017. Avanoa ia Iulai 31, 2019.