Lesch-Nyhan syndrome

Lesch-Nyhan syndrome o se faʻamaʻi e pasi mai i aiga (tofi). E afaina ai le faʻafefea e le tino ona fausia ma talepe i lalo purine. Purines o se masani vaega o aano o tagata e fesoasoani e fausia ai le tino o le mamanu o le tino. E maua foi i latou i le tele o meaʻai eseese.

Lesch-Nyhan syndrome ua pasia i lalo o se X-fesoʻotaʻi, poʻo se amioga fesoʻotaʻi. E tupu tele i tama. Tagata o loʻo maua i lenei faʻamaʻi o loʻo misia poʻo le matua leai lava o se enzyme e taʻua ole hypoxanthine guanine phosphoribosyltransferase (HPRT). E manaʻomia e le tino lenei vailaʻau e toe gaosi ai purine. A aunoa ma ia, le masani ai maualuga maualuga o uric acid faʻaputu luga i le tino.

O le tele o le uric acid e mafai ona mafua ai le fulafula pei o le fulafula i nisi o sooga. I nisi tulaga, fatugaʻo ma maʻa tagotogo atiina ae.

Tagata faʻatasi ma Lesch-Nyhan ua faʻatuai le atinaʻeina o afi aʻo mulimuli mai gaioiga le masani ai ma faʻateleina reflexes. O se vaega ofoofogia o le Lesch-Nyhan syndrome o se amioga faataumaoi, e aofia ai ma le lamuina o tamatamai lima ma laugutu. E le o mailoa pe faʻafefea ona mafua mai nei faʻamaʻi.

Atonu e i ai se aiga talaʻaga o lenei tulaga.

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino. E ono faʻaalia le suʻega:

• Faʻateleina reflexes
• Spasticity (maua spasms)

Toto ma miaga suʻega ono faʻaalia ai le maualuga o le uric acid. Ole paʻu ole paʻu e faʻaalia ai le faʻaititia ole maualuga ole HPRT1 enzyme.

Leai se faʻapitoa togafitiga mo le Lesch-Nyhan faʻamaʻi. Vailaʻau mo le togafitia gout mafai tuʻu i lalo tulaga uric acid. Ae ui i lea, togafitiga e le faʻaleleia atili ai le popolevale taunuʻuga taunuʻu (mo se faʻataʻitaʻiga, i le faʻateleina reflexes ma spasms).

O nisi faʻailoga e mafai ona faʻamamaina i nei vailaʻau:

• Carbidopa / levodopa
• Diazepam
• Phenobarbital
• Haloperidol

Faʻaleagaina oe lava e mafai ona faʻaititia e ala i le aveʻesea o nifo pe ala i le faʻaaogaina o se puipui puipuia gutu fuafuaina e se fomaʻi nifo.

Oe mafai ona fesoasoani i se tagata ma lenei faʻamaʻi faʻaaogaina le faʻamamaina-faʻaititia ma lelei amio amio auala.

O le iʻuga e ono matitiva. O tagata e maua ile faʻamaʻi lenei e masani ona manaʻomia le fesoasoani e savali ma nofo. Tele e manaʻomia se nofoa uili.

Matuia, alualu i luma le atoatoa e ono.

Valaʻau lau tautua pe a iai ni faʻailoga o lenei maʻi i lau tama pe o iai se talaʻaga o le Lesch-Nyhan syndrome i lou aiga.

Faufautua faʻapitoa mo matua faamoemoeina ma se aiga talaʻaga o le Lesch-Nyhan syndrome e fautuaina. O suʻega e mafai ona faia e iloa ai pe o se fafine o se feaveaʻia lenei faʻamaʻi.

Harris JC. Faʻaletonu o purine ma pyrimidine metabolism. 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 108

Katz TC, Finn CT, Stoler JM. Tagata mamaʻi e iai faʻasologa o tupuʻaga. I le: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, eds. Massachusetts Tusitusiga Aoao Falemai Tusitaulima o General Falemai Psychiatry. 7th ed. Filatelefia, PA: Elsevier; 2018: mata 35.