Chediak-Higashi syndrome

Chediak-Higashi syndrome o se faʻamaʻi seasea o le puipuiga ma neula. E aofia ai lauulu lanu-sesega, mata, ma le paʻu.

Chediak-Higashi syndrome e pasi i lalo i aiga (tofi). O se faʻamaʻi lemu autosomal. O lona uiga o matua uma o aveina a le le galulue kopi o le kenera. E tatau ona tuʻuina atu e matua uma a latou kenera le faigaluega i le tamaititi latou te faʻaalia ai faʻailoga o le faʻamaʻi.

Ua maua ni faaletonu i le LYST (valaauina foi CHS1) gafa O le faʻaletonu muamua i lenei faʻamaʻi e maua i nisi o vailaʻau e masani ona i ai i sela o le paʻu ma nisi sela papaʻe.

Tamaiti ei ai lenei tulaga ono maua:

• Lauulu siliva, malamalama-lanu mata (albinism)
• Faʻateleina faʻamaʻi i māmā, paʻu, ma muʻa
• Fealuaʻi a mata mata (nystagmus)

O faʻamaʻi o tamaiti ua aʻafia ma nisi siama, pei o le Epstein-Barr virus (EBV), e mafai ona mafua ai se faʻamaʻi ola e pei o le kanesa o le toto lymphoma.

O isi faʻailoga e mafai ona aofia ai:

• Faʻaitiitia le vaʻai
• Le atoatoa le malosi o le mafaufau
• Vaivaiga maso
• O neula faʻafitauli i vae ma vae (peripheral neuropathy)
• Nosebleeds pe faigofie le totolia
• Leai se mea
• Faʻafefe
• Faoa faamalosi
• Malamalama i malamalama susulu (photophobia)
• Savali le tumau (ataxia)

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino. Lenei ono faʻaalia ai faʻailoga o le fulafula toto poʻo le ate poʻo le jaundice.

O suʻega e mafai ona faia e aofia ai:

• Faitau atoa le toto, aofia ai ma le paʻepaʻe o le toto
• Totoina i ai i le toto
• Toto aganuu ma palu
• Brain MRI poʻo le CT
• EEG
• EMG
• Nofoaga faʻataʻitaʻi conduction

E leai se faʻapitoa togafitiga mo Chediak-Higashi syndrome. O taotoga o ponaivi na faia i le amataga o le faamaʻi na foliga mai na manuia i le tele o tagata gasegase.

O vailaʻau faʻafomaʻi e faʻaaogaina e togafitia ai faʻamaʻi. O vailaʻau faʻamalosi tino, e pei o le acyclovir, ma vailaʻau o le chemotherapy e masani ona faʻaaogaina i le saoasaoa o le faʻamaʻi. Toto ma palama tui e tuuina atu pe a manaomia. Atonu e manaʻomia se taotoga e aveese ai abscesses i nisi tulaga.

National Organization for Rare Disorder (NORD) - rarediseases.org

O le oti e masani ona tupu i le 10 tausaga muamua o le olaga, mai taimi uʻamea (tumau) faʻamaʻi poʻo le faʻateleina o faʻamaʻi e mafua ai maʻi e pei o le lymphoma. Peitaʻi, o ni isi o tamaiti ua aʻafia, ua umi atu na latou ola.

Faʻafitauli e ono aofia ai:

• Tele faʻamaʻi pipisi e aofia ai ituaiga siama
• O le kanesa e pei o le Lymphoma e mafua mai i faʻamaʻi pipisi e pei ole EBV
• Oti vave

Valaʻau lau tautua pe a fai o iai sau talaʻaga aiga i lenei maʻi ma o loʻo e fuafuaina e faia sau fanau.

Talanoa i lau tautua pe a faʻaalia e lou alo faʻailoga o le Chediak-Higashi syndrome.

Ole faufautua ole genetic e fautuaina ae e te leʻi maʻito pe a iai sau talaʻaga a le aiga o Chediak-Higashi.

Coates TD. Faʻaletonu o le faʻagaioiga o phagocyte. 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: mata 156

Dinauer MC, Coates TD. Faʻaletonu o le faʻagaioiga o le phagocyte. I: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Faavae Autu ma Faʻataʻitaʻiga. 7th ed. Filatelefia, PA: Elsevier; 2018: chap 50.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. Chediak-Higashi syndrome. Gene iloiloga. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Toe faʻafou Iulai 5, 2018. Avanoa ia Iulai 30, 2019.