Adrenoleukodystrophy

Adrenoleukodystrophy faʻamatalaina ni vavalalata vavalalata faʻalavelave e faʻalavelave ai le malepe o nisi gaʻo. O nei faʻaletonu e masani ona pasi i lalo (tofi) i totonu o aiga.

Adrenoleukodystrophy e masani ona pasi ifo mai matua i le tamaititi o se X-fesoʻotaʻi uiga faʻaleaganuʻu. E afaina tele tama. O ni fafine o loʻo feaveaʻia taavale e mafai ona sili atu le mama o ituaiga faamai. E aʻafia ai le tasi mai le 20,000 tagata mai ituaiga uma.

O le tulaga e mafua ai le fausiaina o lava-umi-filifili filifili gaʻo i le neula tino, adrenal gland, ma testes. Lenei faʻalavelaveina gaioiga masani i nei vaega o le tino.

E tolu tele vaega o faʻamaʻi:

• Fanau cerebral form - aliali mai i le ogatotonu o tamaiti (i tausaga 4 i le 8)
• Adrenomyelopathy - e tupu i tamaloloa ile 20 poʻo le mulimuli ane o le olaga
• Faʻaletonu gaioiga adrenal gland (valaʻauina Addison faʻamaʻi poʻo Addison-pei phenotype) - adrenal gland e le maua ai lava steroid sela

Tamaiti cerebral ituaiga auga aofia ai:

• Suiga i maso maso, aemaise lava maso maso ma gaioiga le taofiofia
• Kolose mata
• Tusitusi e atili ai ona leaga
• Faigata i le aʻoga
• Faigata le malamalama i mea o loʻo fai mai ai tagata
• Leiloa faʻalogo
• Hyperactivity
• Faʻaleagaina le faʻafitauli o neula, e aofia ai le koma, faʻaititia le faʻaititia o le afi, ma le supa
• Faoa faamalosi
• Totoina faigata
• Faʻaletonu vaʻaia poʻo le tauaso

Faʻailoga Adrenomyelopathy aofia ai:

• Faigata taofiofia urination
• Masalo faʻateteleina le maso vaivai poʻo le maʻa vae
• Faʻafitauli i le mafaufau saoasaoa ma vaʻaia manatua

Adrenal gland failed (Addison type) faʻailoga e aofia ai:

• Koma
• Faʻaitiitia le fiaai
• Faʻateleina lanu paʻu
• Leiloa o le mamafa ma maso maso (faʻamaimauina)
• Vaivaiga maso
• Talosaga

Suʻega mo lenei tulaga aofia ai:

• Toto maualuga o le umi filifili filifili gaʻo ma homone e gaosia e le adrenal gland
• Suʻesuʻega a le Chromosome e vaʻai ai mo suiga (suiga) o le ABCD1 gafa
• MRI o le ulu
• Biopsy o le paʻu

E mafai ona togafitia le faʻaleagaina o le adrenal i vailaʻau (pei o le cortisol) pe a le lava le gaosia o le homone ona o le adrenal gland.

E le maua se togafitiga faʻapitoa mo le X-fesoʻotaʻi adrenoleukodystrophy. O le gaʻoina o ponaivi ponaivi mafai ona taofi le leaga o le tulaga.

Lagolago tausiga ma mataituina ma le totoʻa o le faʻaletonuina adrenal gland gaioiga ono fesoasoani i le faʻaleleia atili le mafanafana ma le tulaga lelei o le olaga.

O faʻamatalaga o loʻo sosoʻo e mafai ona maua ai nisi faʻamatalaga ile adrenoleukodystrophy:

• Faʻalapotopotoga a le Atunuʻu mo Faʻafitauli Laveaʻi Faamaʻi - rarediseases.org/rare-diseases/adrenoleukodystrophy
• NIH / NLM Genetics Fale Faʻasino Mataupu - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

O le tamaititi ituaiga X-fesoʻotaʻi adrenoleukodystrophy o se faʻamaʻi alualu i luma. E tau atu i le umi-taimi koma (vegetative tulaga) e uiga i le 2 tausaga pe a maeʻa manava auga sisitema tuputupu ae. O le tamaititi mafai ona nofo i lenei tulaga mo le umi o le 10 tausaga seia oo i le oti tupu.

O isi ituaiga o lenei faʻamaʻi e sili atu le agamalu.

O nei faʻalavelave e mafai ona tupu:

• Faalavelave faʻafuaseʻi
• Setete o fualaʻau

Valaʻau lau fomaʻi pe a fai:

• E maua e lou alo faʻailoga o le X-fesoʻotaʻi adrenoleukodystrophy
• O lou alo e maua i le X-fesoʻotaʻi adrenoleukodystrophy ma ua amata ona leaga

O fautuaga faʻapitoa e fautuaina mo ulugaliʻi ma se aiga talaʻaga o le X-fesoʻotaʻi adrenoleukodystrophy. Tina o tama afaina ua i ai le 85% avanoa o le avea ma ave mo lenei tulaga.

Prenatal diagnose o le X-fesoʻotaʻi adrenoleukodystrophy o loʻo avanoa foi. E faia ile suʻesuʻeina o sela mai le chorionic villus faʻataʻitaʻiga poʻo le amniocentesis. O nei suʻega vaʻai pe mo se lauiloa ituaiga suiga i totonu o le aiga pe mo se umi uʻamea filifili gaʻoa tulaga maualuga.

X-fesoʻotaʻi Adrenoleukodystrophy; Adrenomyeloneuropathy; Tamaititi cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

• Fanau afuafua adrenoleukodystrophy

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Lissauer T, Carroll W. Neurological faʻafitauli. I le: Lissauer T, Carroll W, eds. Tusitusiga Tusitusiga o Paediatrics. 5th ed. Filatelefia, PA: Elsevier; 2018: mata 29.

Stanley CA, Bennett MJ. Faʻaletonu i le metabolism o lipids. 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 104

Vanderver A, Wolf NI. Ole faʻafitauli paʻepaʻe ma faʻaleagaina o le mea papaʻe. I le: Swaiman KF, Ashwal S, Ferriero, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Filatelefia, PA: Elsevier; 2017: chap 99.