Gaucher faamaʻi

Gaucher faamaʻi o se seasea tupuʻaga gaioiga lea e le maua ai e se tagata se enzyme e taʻua o le glucocerebrosidase (GBA).

Gaucher faamaʻi e seasea tupu i le lautele o tagata. Tagata o Sasaʻe ma Tutotonu Europa (Ashkenazi) Iutaia measina e ono ono maua lenei faʻamaʻi.

O se faʻamaʻi lemu autosomal. O lona uiga e tatau i le tina ma le tama ona tufa uma atu le tasi kopi le masani ai o le genes faʻamaʻi i le la tama ina ia mafai ai e le tamaititi ona maua i le faʻamaʻi. O se matua na te aveina se kopi le masani ai o le kenera ae leai se maʻi e taʻua o le filemu feaveaʻi.

O le le lava o le GBA ua mafua ai mea leaga e faʻaputuputu i le ate, faʻalava, ponaivi, ma ponaivi gaʻo. O nei vailaʻau puipuia sela ma totoga mai le galue lelei.

E tolu autu taua ole Gaucher faamaʻi:

• Ituaiga 1 e sili ona taatele. E aofia ai faʻamaʻi ponaivi, anemia, se faʻateleina o le alualutoto ma maualalo papamaa (thrombocytopenia). Ituaiga 1 e aʻafia uma tamaiti ma tagata matutua. E taatele i le faitau aofai o tagata Iutaia Ashkenazi.
• Ituaiga 2 e masani lava ona amata i le pepe ma le matua aafia ai neura. O lenei fomu e mafai ona taitai atu ai i le vave, vave maliu.
• Ituaiga 3 e ono mafua ai faʻafitauli i le ate, taʻele, ma le faiʻai. Tagata i lenei ituaiga ono ola i le matua.

O le toto ona o le maualalo o le fua o le platelet o le faʻailoga masani lea e vaʻaia ile faʻamaʻi o Gaucher. O isi faʻailoga e mafai ona aofia ai:

• Tiga o ponaivi ma malepe
• Faʻaleagaina le mafaufau (faʻaitiitia le mafaufau mafaufau)
• Faigofie manuʻa
• Faʻalautele pupula
• Faʻateleina le ate
• Le lavava
• Faʻafitauli ole alatoto ole fatu
• Maʻi mama (seasea)
• Faoa faamalosi
• Fiva fulafula i le taimi na fanau ai
• Paʻu suia

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

O suʻega ia e ono faia:

• Toto suʻega e vaʻai ai gaioiga ole gaʻo
• Manaʻoga ivi
• Biopsy o le spleen
• MRI
• CT
• X-ray o le auivi
• Suʻega ole gafa

Gaucher faamaʻi e le mafai ona faʻamaloloina. Ae o togafitiga e mafai ona fesoasoani faʻatonutonu ma ono faʻaleleia atili faʻailoga.

E mafai ona ave vailaʻau i:

• Sui le leiloa GBA (enzyme replacement therapy) e fesoasoani e faʻaititia tele lapoʻa, ponaivi tiga, ma faʻaleleia atili le thrombositopenia.
• Faʻatapulaʻaina gaosia o gaʻo gaʻo gaʻo e fausiaina i le tino.

Isi togafitiga aofia ai:

• Vailaau mo tiga
• Taotoga mo ponaivi ma soʻoga faʻafitauli, pe aveʻese le spleen
• Toto toto

Lenei kulupu mafai ona tuʻuina atu faʻamatalaga atili e uiga i faʻamaʻi Gaucher:

• National Gaucher Foundation - www.gaucherdisease.org
• National Library of Medicine, Genetics Home Reference - ghr.nlm.nih.gov/condition/gaucher-disease
• National Organisation for Rare Diseases - rarediseases.org/rare-diseases/gaucher-disease

Ole faʻafefea e se tagata ona faʻalagolago i le latou subtype o le faʻamaʻi. O le tamaititi ituaiga o Gaucher faamaʻi (Ituaiga 2) ono taitai atu ai i le vave oti. Ole tele o tamaiti ua aʻafia e feoti ae leʻi atoa le 5 tausaga.

Tagata matutua ma le ituaiga 1 ituaiga o faʻamaʻi Gaucher mafai ona faʻamoemoeina masani olaga faʻamoemoeina ma enzyme suia togafitiga.

Faʻafitauli o faʻamaʻi Gaucher ono aofia ai:

• Faoa faamalosi
• Anemia
• Thrombocytopenia
• Faʻafitauli ivi

O fautuaga tuʻufaʻasolopito e fautuaina mo ni matua faamoemoeina ma le aiga talaʻaga o faʻamaʻi Gaucher. O suʻega e mafai ona faʻamautinoaina pe o aveina e matua le kenera e mafai ona pasi i le faʻamaʻi o Gaucher. E mafai foʻi ona iloa pe a faia se faʻataʻitaʻiga pe a fanau le pepe i le manava o le Gaucher syndrome.

Glucocerebrosidase le lava; Glucosylceramidase le lava; Lysosomal teuina faʻamaʻi - Gaucher

• Manaʻoga ivi
• Gaucher sela - photomicrograph
• Gaucher sela - photomicrograph # 2
• Hepatosplenomegaly

Kliegman RM, St.Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. 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

Krasnewich DM, Sidransky E. Lysosomal faʻamaʻi pipisi. I totonu: Goldman L, Schafer AI, eds. Faʻafomaʻi Goldman-Cecil. 26th lomiga. Filatelefia, PA: Elsevier; 2020: chap 197

Turnpenny PD, Ellard S, Cleaver R. O mea sese na tutupu mai o le metabolism. I totonu: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elemene o Fomaʻi Genetics ma Genomics. 16th lomiga. Filatelefia, PA: Elsevier; 2022: mata 18.