Faamaʻi Krabbe

O le faʻamaʻi Krabbe o se faʻamaʻi masani o le neula. O se ituaiga o faʻamaʻi pipisi e taʻua o leukodystrophy.

O se faaletonu i le GALC gafa mafua ai faʻamaʻi Krabbe. Tagata e iai lenei faaletonu o le genes e le lava a latou vailaʻau (enzyme) e taʻua o le galactocerebroside beta-galactosidase (galactosylceramidase).

E manaʻomia e le tino lenei enzyme e fai ai myelin. O Myelin o loʻo siʻomia ma puipuia ia neura. A aunoa ma lenei enzyme, o le myelin e malepe, o sela o le faiʻai e feoti, ma neura i le faiʻai ma isi vaega o le tino e le ola lelei.

Krabbe faamaʻi mafai ona tupu i tausaga eseese:

• O le amataga o le faʻamaʻi Krabbe e aliali mai i uluaʻi masina o le olaga. Tele tamaiti ma lenei ituaiga o faʻamaʻi feoti ae latou te leʻi ausia le tausaga 2.
• Late-onset Krabbe faamaʻi e amata i le tuai o tamaiti pe o le amataga o le talavou.

Krabbe faamaʻi ua faʻasolo mai, o lona uiga ua pasi mai i lalo i aiga. Afai o matua uma o loʻo aveina le le galulue kopi o le keni e faʻatatau i lenei tulaga, taʻitasi o a latou fanau ei ai le 25% (1 i le 4) avanoa e atiaʻe ai le faʻamaʻi. O se faʻalavelave faʻafitauli o le autosomal recessive.

E seasea tupu lenei tulaga. E taatele i tagata o tupuaga Skandinavia.

Faʻailoga o le vave amata o faʻamaʻi Krabbe o:

• Suia maso maso mai floppy i malo
• Faʻalogo faʻalogo ua mafua ai le tutuli
• Le mafai ona manuia
• Faafitauli faigata
• Le itaitagofie ma le malamalama i leo leotetele
• Faoa faamalosi ogaoga (e mafai ona amata i se matua tausaga)
• Fiva le faʻamatalaina
• Leiloa vaʻai e tau atu i le tauaso
• Talosaga

I le tuai ai o le faʻamaʻi Krabbe, o faʻafitauli vaʻai e ono aliaʻi muamua, sosoʻo ai ma faigata savali ma maso malo. E eseese faʻailoga mai lea tagata i lea tagata. O isi faʻailoga e ono tutupu foi.

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino ma fesili e uiga i faʻailoga.

O suʻega e mafai ona faia e aofia ai:

• Toto suʻega e vaʻai ai i le maualuga o le galactosylceramidase i sela papaʻe
• CSF aofaʻi polotini - tofotofoina le aofaʻi o polotini i cerebrospinal suavai (CSF)
• Faʻamaoniga ole genetic mo le GALC gene le atoatoa
• MRI o le ulu
• Saosaoa conduction saoasaoa

E leai se faʻapitoa togafitiga mo faʻamaʻi Krabbe.

O nisi tagata na faia le taotoga o ponaivi ponaivi i le amataga o le faamai, ae o lenei togafitiga e i ai tulaga lamatia.

O nei fesoasoani e mafai ona maua ai nisi faʻamatalaga e uiga i le faʻamaʻi Krabbe:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• NIH Genetics Fale Faʻasino Tusi - ghr.nlm.nih.gov/condition/krabbe-disease
• United Leukodystrophy Foundation - www.ulf.org

O le iʻuga e ono matitiva. I le averesi, o pepe e maua i le amataga o le faʻamaʻi Krabbe e feoti ao le i oʻo i le tausaga 2. O tagata e maua i le faʻamaʻi i se taimi mulimuli ane na sao mai i le matutua ma faʻamaʻi neula.

O lenei faʻamaʻi faʻaleagaina le totonugalemu o neula. E mafai ona mafua ai:

• Tauaso
• Tutuli
• Ogaoga faʻafitauli ma maso maso

O lenei faʻamaʻi e masani ona lamatia ai le ola.

Faʻafesoʻotaʻi lau tautua pe a maua e lou alo faʻailoga o lenei faʻamaʻi. Alu i le falemaʻi potu faʻafuaseʻi telefoni pe vili lau numera faʻafuaseʻi i le lotoifale (pei o le 911) pe a fai o faʻailoga nei e tupu

• Faoa faamalosi
• Leiloa o le malamalama
• Ole faʻailoga masani

O fautuaga faʻapitoa e fautuaina mo tagata e iai le talaʻaga o le aiga o Krabbe faʻamaʻi o loʻo mafaufau e fai ni fanau.

E mafai ona faia se suʻega ile toto pe e te tauʻaveina le kenera mo le faʻamaʻi o Krabbe.

Prenatal tofotofoga (amniocentesis poʻo chorionic villus faʻataʻitaʻiga) mafai ona faia e faʻataʻitaʻia ai se pepe tuputupu aʻe mo lenei tulaga.

Globoid sela leukodystrophy; Le lava Galactosylcerebrosidase; Galactosylceramidase le lava

Grabowski GA, Burrow TA, Leslie ND, Prada CE. Lysosomal faʻamaʻi faʻamaʻi. I: Orkin SH, Fisher DE, Ginsburg D, Vaʻai AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology ma Oncology o Tamaititi ma Tamaititi. 8th ed. Filatelefaia, PA: Elsevier Saunders; 2015: mata 25.

Pastores GM, Wang RY. Lysosomal faʻamaʻi faʻamaʻi. I le: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Mataupu Faavae ma Faʻataʻitaʻiga. 6th ed. Filatelefia, PA: Elsevier; 2017: mata 41.