Koj tus me nyuam puas muaj tus kab mob txawv txawv no? - Cia peb kawm txog Lesch-Nyhan Syndrome

Koj tus me nyuam puas raug mob? Koj puas tau pom nws tom nws daim di ncauj, tom nws cov ntiv tes, lossis ntaus nws lub taub hau qhov twg? Thaum qhov ntawd tshwm sim, nws yog ib qho ib txwm rau koj, ua ib leej niam lossis leej txiv, kom ntshai thiab txhawj xeeb heev. Hnub no peb yuav tham txog qhov mob hnyav, tab sis tsis tshua muaj hu ua Lesch-Nyhan Syndrome. Kuv vam tias tom qab nyeem qhov no, koj yuav nkag siab meej txog qhov no.

Lesch-Nyhan Syndrome yog dab tsi? Cia peb nkag siab yooj yim!

Hais yooj yim xwb, Lesch-Nyhan Syndrome (LNS) yog ib yam mob tsis tshua muaj uas muaj thaum yug los . Nws feem ntau cuam tshuam rau lub hlwb thiab tus cwj pwm ntawm tus menyuam. Raws li peb tau hais ua ntej, ib qho ntawm cov tsos mob tseem ceeb thiab hnyav tshaj plaws ntawm tus kab mob no yog tus menyuam txoj kev ua phem rau tus kheej tsis tswj hwm. Qhov ntawd txhais tau tias tej yam xws li tom lawv daim di ncauj, tom lawv cov ntiv tes, lossis ntaus lawv lub taub hau rau tej yam xws li phab ntsa. Xav txog seb tus menyuam yaus yuav tsum mob npaum li cas thaum lawv ua li ntawd.

Kab mob no ua rau muaj cov uric acid ntau ntxiv, uas yog cov khoom pov tseg uas tshwm sim hauv peb lub cev. Cov kws tshawb fawb xav tias LNS kuj cuam tshuam rau cov tshuaj xa xov dopamine, uas yog qhov tseem ceeb rau kev ua haujlwm ntawm lub hlwb.

Cov menyuam yaus uas muaj tus mob no, LNS, tuaj yeem mob pob qij txha hnyav hu ua gout . Lawv kuj tseem yuav muaj dystonia thiab kev tsis txawj ntse.

Tu siab kawg li, tsis muaj tshuaj kho tau tus mob Lesch-Nyhan syndrome. Qhov kev kwv yees tsis zoo. Txawm li cas los xij, nrog kev kho mob kom zoo, koj tus menyuam cov tsos mob tuaj yeem tswj tau, cov teeb meem tuaj yeem txo qis, thiab lub neej zoo tuaj yeem txhim kho qee yam.

Leej twg tau txais Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome yog ib qho kab mob metabolic uas tau txais los ntawm noob caj noob ces. Feem ntau nws kis tau los ntawm niam mus rau tus tub. Nws tsis tshua muaj rau cov ntxhais.

Txawm li cas los xij, qee zaum, txawm tias tsis muaj leej twg hauv tsev neeg tau muaj tus kab mob caj ces no ua ntej los xij, qhov mob 'LNS' no kuj tuaj yeem tshwm sim vim muaj kev hloov pauv sai sai '(kev hloov pauv)' hauv ib qho gene tshwj xeeb '(HPRT1 gene)' thaum tus menyuam loj hlob hauv plab. 'Kev kuaj caj ces' tuaj yeem nrhiav tau seb tus neeg puas muaj qhov kev hloov pauv gene no tau txais los ntawm niam txiv lossis tshiab tsim.

Puas muaj lwm yam mob uas zoo li Lesch-Nyhan syndrome (LHS)?

Yog, muaj ntau lwm yam mob uas qhia cov tsos mob zoo ib yam li 'LNS'. Piv txwv li, 'autism spectrum disorder' thiab 'cerebral palsy' ob leeg muaj cov tsos mob zoo ib yam li 'LNS'.Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum tau kuaj mob kom raug kom koj tus menyuam thiaj li tau txais kev kho mob zoo.

Nov yog qee yam mob uas zoo ib yam li 'LNS':

• Cornelia de Lange syndrome - Qhov no kuj yog ib qho kev puas tsuaj ntawm kev loj hlob.
• Tsev neeg dysautonomia.
• Fragile X syndrome.
• Tsis muaj Glucose 6-phosphate dehydrogenase (G6PD) deficiency - Qhov no yog ib qho mob caj ces uas cuam tshuam rau cov qe ntshav liab.
• 'Kab mob neuropathy uas los ntawm noob caj noob ces'.
• Kab mob Huntington.
• Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Qhov no kuj ua rau muaj ntau dhau ntawm uric acid.
• 'Rett syndrome'.
• 'Tourette syndrome'.

Puas muaj ntau hom kab mob Lesch-Nyhan (LHS) sib txawv?

Tus kab mob uas feem ntau pom muaj, hu ua Classic Lesch-Nyhan syndrome (LNS), yog ib hom mob hnyav heev . Nws ua rau muaj teeb meem rau lub cev, lub hlwb, thiab tus cwj pwm. Txawm li cas los xij, muaj lwm hom mob uas tsis hnyav heev . Cov menyuam yaus uas muaj cov hom mob no muaj cov tsos mob tsawg heev. Lawv kuj tsis tshua muaj feem yuav ua rau lawv tus kheej raug mob thiab muaj teeb meem txav mus los.

Cov hom mos mos no yog:

• `Kev ua haujlwm ntawm lub paj hlwb ntsig txog HPRT1 (HND)`.
• `Kelley–Seegmiller syndrome uas cuam tshuam nrog HPRT1 hyperuricemia` (HPRT1-related hyperuricemia - Kelley–Seegmiller syndrome) - Qhov no yog hom mob tsis hnyav tshaj plaws.

Muaj lwm lub npe dab tsi ntxiv rau Lesch-Nyhan syndrome (LHS)?

Kab mob no kuj muaj ntau lub npe hu ua:

• `Choreoathetosis self-mutilation syndrome`
• `Kev tsis muaj peev xwm ua tiav hypoxanthine-guanine phosphoribosyltransferase`
• Kab mob gout rau cov menyuam yaus
• 'Cov mob ntshav qab zib ntau hauv cov menyuam yaus'
• Kelley-Seegmiller syndrome
• Kab mob Lesch Nyhan (LND)
• 'Thawj zaug mob hyperuricemia syndrome'
• `Tag nrho HPRT tsis txaus`
• 'Kab mob uricemia txuas nrog X'

Kab mob Lesch-Nyhan (LHS) muaj ntau npaum li cas?

Kab mob Lesch-Nyhan yog ib yam mob tsis tshua muaj . Nws cuam tshuam txog li ib ntawm 380,000 tus neeg . Nws kuj tseem muaj ntau dua rau cov tub hluas. Tus kab mob no tau txheeb xyuas thawj zaug hauv xyoo 1964.

Dab tsi ua rau muaj tus kab mob Lesch-Nyhan Syndrome (LHS)?

Qhov laj thawj tseem ceeb rau qhov no yogKev hloov pauv, lossis kev hloov pauv, hauv ib lub noob tshwj xeeb hu ua 'HPRT1 gene'. Lub noob 'HPRT1' no tsim ib qho enzyme tseem ceeb heev hu ua 'HPRT'. Ib qho enzyme yog ib hom protein uas ua kom cov tshuaj lom neeg (metabolism) hauv peb lub cev sai dua thiab pab lub cev ua haujlwm.

Xav txog seb yuav muaj li cas thaum cov enzyme 'HPRT' no tsis ua haujlwm zoo. Hauv Lesch-Nyhan syndrome, lub cev tsis tuaj yeem siv cov tshuaj hu ua 'purines' kom raug . Thaum cov purines no tsis raug siv kom raug, lawv hloov mus ua 'uric acid'. Qhov no yog cov khoom pov tseg hauv peb cov ntshav.

Feem ntau, feem ntau ntawm cov 'uric acid' no hla dhau lub raum thiab raug tso tawm hauv cov zis. Txawm li cas los xij, hauv Lesch-Nyhan syndrome, 'uric acid' (uric acid) sib sau ua ke hauv lub cev ntau dhau (hyperuricemia) .

Cov uric acid ntau dhau no yuav ua rau cov pob zeb me me, lossis cov pob zeb urate crystals, nyob rau hauv daim tawv nqaij, tes, thiab taw. Cov pob zeb no tuaj yeem ua rau cov pob qij txha puas tsuaj thiab ua rau muaj mob hu ua gout.

Tsis tas li ntawd xwb, cov pob zeb me me no tuaj yeem tsim tau rau hauv ob lub raum lossis lub zais zis, ua rau cov zis tsis ntws thiab ua rau mob. Qee zaum mob hnyav, ob lub raum yuav tsis ua haujlwm (ua tsis tau haujlwm raum).

Cov tsos mob ntawm Lesch-Nyhan Syndrome (LHS) yog dab tsi?

Cov tsos mob ntawm cov menyuam yaus uas muaj tus kab mob Lesch-Nyhan cuam tshuam rau lawv lub peev xwm ntawm lub hlwb, kev txav mus los, thiab tus cwj pwm . Kev tsis muaj zog hauv kev tswj cov leeg nqaij thiab kev loj hlob qeeb yog cov cim qhia ntxov ntawm tus mob.

Tej tus menyuam mos yuav muaj cov xim txiv kab ntxwv hauv lawv cov ntaub qhwv menyuam yog tias lawv muaj cov kua qaub uric ntau dhau hauv lawv lub cev. Txawm li cas los xij, feem ntau cov menyuam mos uas muaj tus mob no tsis qhia cov tsos mob pom tseeb kom txog thaum lawv muaj li 4 lub hlis.

Muaj ntau yam tsos mob uas cov niam txiv thiab cov kws kho mob pom tau. Cia peb saib lawv ib qho zuj zus:

Ua phem rau tus kheej thiab lwm tus

Kev ua rau tus kheej raug mob yog ib qho cim ntawm Lesch-Nyhan syndrome, uas yog ib qho mob uas tshwm sim tom qab tus menyuam pib hniav tawm. Tus cwj pwm no feem ntau suav nrog:

• Ntaus koj lub taub hau lossis koj ob txhais ceg qhov twg.
• Tom daim di ncauj, cov ntiv tes, thiab sab plhu.
• Khaus rau hauv qhov muag.

Qee zaum, cov menyuam yaus uas muaj tus mob no sim ua phem rau lwm tus. Lawv yuav hais lus phem, tuav, ntaus, tom, lossis nto qaub ncaug rau lwm tus . Nws yuav tsum tu siab thiab tsis muaj zog rau leej niam lossis leej txiv pom qhov no, puas yog?

Teeb meem ntawm cov leeg nqaij thiab kev txav mus los

Lwm cov tsos mob uas pom ntau yog teeb meem nrog kev tswj cov leeg nqaij. Cov no suav nrog:

• Ballismus yog kev txav tes lossis taw rov ua dua tib yam.
• Nyuaj siab nkag, taug kev, lossis noj mov nrog koj txhais tes.
• Nyuaj nqos (dysphagia).
• Hyperreflexia.
• Kev khoov ntawm tus txha nqaj qaum vim yog cov leeg nqaij sib zog '(opisthotonos)'.
• Kev txav mus los tsis txhob txwm ua (dystonia) lossis kev hloov pauv ntawm lub ntsej muag.
• Kev co, ntswj, thiab txav tsis txhob txwm ua (choreoathetosis).
• Kev txav mus los sai sai (chorea).
• Kev txav mus los tsis zoo vim yog cov leeg nqaij tawv lossis tawv (spasticity).
• Hais lus tsis meej lossis hais lus qeeb qeeb (dysarthria).

Teeb meem kev noj qab haus huv

Cov menyuam yaus uas muaj tus kab mob Lesch-Nyhan syndrome yuav muaj teeb meem kev noj qab haus huv vim muaj cov 'uric acid' sib sau ua ke hauv lub cev. Cov no suav nrog:

• Cov pob zeb hauv lub zais zis.
• Kev ua haujlwm tsis zoo ntawm lub raum.
• Pob zeb hauv lub raum.
• Mob pob qij txha.
• Megaloblastic anemia tshwm sim los ntawm qhov tsis txaus vitamin B12.
• ntuav ntau zaus.

Teeb meem kev kawm

Cov menyuam yaus kuj tseem yuav muaj teeb meem xws li:

• Kev tsis taus kawm ntawv.
• Teeb meem ntawm lub hlwb xws li tsis nco qab lossis tsis tshua muaj siab xav mloog.
• Nyuaj siab npaj tej yam nyuaj.

Yuav kuaj mob Lesch-Nyhan Syndrome (LHS) li cas?

Tej zaum koj yuav pom cov tsos mob hauv koj tus menyuam. Los yog, tus kws kho mob yuav pom tus cwj pwm txawv txawv thaum lub sijhawm kuaj mob niaj hnub. Cov kws kho mob kuaj mob Lesch-Nyhan syndrome los ntawm kev kuaj lub cev .

Lawv kuj yuav nug txog koj tus menyuam cov tsos mob thiab keeb kwm kev kho mob hauv tsev neeg. Lawv kuj yuav nrhiav cov cim xws li:

• Kev loj hlob qeeb.
• Kev kuaj ntshav los yog zis yuav txiav txim siab seb koj cov uric acid puas siab.
• Cov cwj pwm ua phem rau tus kheej.

Muaj lwm yam kev kuaj mob dab tsi pab tau rau kev kuaj mob?

Koj tus kws kho mob yuav pom zoo kom kuaj ntshav thiab kuaj noob caj ces kom paub tseeb tias muaj mob thiab tsis muaj lwm yam mob. Kev kuaj noob caj ces suav nrog kev coj cov ntshav me me. Tom qab kuaj noob caj ces, tus kws pab tswv yim txog noob caj ces yuav nrog koj tham txog cov txiaj ntsig.

Yog tias ib tug neeg hauv koj tsev neeg muaj tus kab mob Lesch-Nyhan, thiab koj cev xeeb tub, nrog koj tus kws kho mob tham txog qhov no. Koj tus kws kho mob yuav pom zoo kom kuaj ua ntej yug menyuam, tshwj xeeb tshaj yog tias koj paub tias koj tus menyuam yog tub. Qhov kev kuaj ua ntej yug menyuam no yuav suav nrog:

• Kev kuaj amniocentesis.
• Kev kuaj mob ntawm cov chorionic villus.

Puas muaj kev kho rau Lesch-Nyhan Syndrome (LHS)?

Tu siab kawg li, tsis muaj tshuaj kho tau tus mob Lesch-Nyhan syndrome, thiab cov kev kho mob muaj tsawg. Txawm li cas los xij, cov kws kho mob tuaj yeem pab koj thiab koj tus menyuam tswj cov tsos mob thiab ua kom muaj lub neej zoo dua.

Leej twg yuav yog tus pab pawg kho mob Lesch-Nyhan Syndrome (LHS) ntawm kuv tus menyuam?

Yog koj tus menyuam muaj tus mob Lesch-Nyhan syndrome, ib pab neeg kws tshwj xeeb thiab cov neeg ua haujlwm kho mob feem ntau yuav saib xyuas tag nrho cov tsos mob. Pab neeg no yuav muaj xws li:

• Ib tug kws tshawb fawb txog noob caj noob ces.
• Kws kho mob raum (nephrologist).
• Ib tug kws kho mob hlwb.
• Ib tug kws kho mob ua haujlwm.
• Ib tug kws kho mob menyuam yaus.
• Ib tug kws kho mob lub cev.
• Ib tug neeg ua haujlwm pabcuam zej zog.
• Ib tug kws kho mob hais lus.
• Ib tug kws kho mob uas tshwj xeeb hauv kev tso zis (urologist).

Yuav kho tus mob Lesch-Nyhan Syndrome (LHS) li cas?

Kev kho mob rau Lesch-Nyhan syndrome nyob ntawm seb koj tus menyuam cov tsos mob thiab lawv qhov hnyav npaum li cas.

Cov menyuam mos thiab cov menyuam yaus yuav xav tau kev saib xyuas thiab kev txhawb nqa ntxiv thaum pub mis .

Koj tus kws kho mob yuav pom zoo cov yam xws li:

• Cov tshuaj siv los tswj cov qib uric acid siab lossis kom txo cov teeb meem kev coj cwj pwm.
• Kev pab pub mis lossis nqos.
• Cov khoom siv pab, xws li lub rooj zaum muaj log, kom yooj yim txav mus los.
• Kev kho lub cev thiab kev kho mob ua haujlwm.
• Cov khoom siv tiv thaiv xws li daim ntaub qhwv lossis lub qhov ncauj kom tiv thaiv kev txav mus los yam tsis xav tau xws li tom ntiv tes.
• Cov txheej txheem xws li shockwave lithotripsy lossis laser lithotripsy kom tawg cov pob zeb hauv lub raum lossis lub zais zis.

Kuv puas txo tau qhov kev pheej hmoo ntawm kev mob Lesch-Nyhan Syndrome (LHS) ntawm kuv tus menyuam?

Qhov tseeb, tsis muaj ib txoj kev twg los tiv thaiv tau tus kab mob Lesch-Nyhan syndrome. Nws yog tshwm sim los ntawm kev hloov pauv caj ces (kev hloov pauv) uas tshwm sim thaum tus menyuam loj hlob hauv plab. Tsis muaj dab tsi koj ua tuaj yeem ua rau muaj tus kab mob no. Nco ntsoov qhov ntawd. Qee zaum, kev kuaj mob ua ntej yug menyuam tuaj yeem ua tau los nrhiav qhov kev hloov pauv caj ces.

Yuav ua li cas rau ib tug me nyuam uas muaj Lesch-Nyhan syndrome (LHS)?

Feem ntau cov menyuam yaus uas muaj tus kab mob Lesch-Nyhan syndrome no muaj kev cia siab tsis zoo . Feem ntau lawv tsis tuaj yeem taug kev thiab xav tau lub rooj zaum muaj log. Muaj ntau tus neeg muaj lub neej luv luv . Vim muaj teeb meem ntawm tus kab mob, nws tsis tshua muaj neeg nyob dhau 20 xyoo. Txawm li cas los xij, pab pawg kho mob tuaj yeem pab koj thiab koj tus menyuam tswj cov tsos mob thiab pab koj tus menyuam kom xis nyob thiab ua ub ua no tau.

Thaum twg kuv yuav tsum nrhiav kev pab kho mob rau kuv tus menyuam?

Nws yog ib qho tseem ceeb uas yuav tsum paub txog tus mob Lesch-Nyhan thaum ntxov . Cov kws kho mob tuaj yeem muab kev txhawb nqa thiab kev pab txo cov tsos mob rau koj thiab koj tus menyuam. Koj tus kws kho mob yuav ua haujlwm nrog koj los kho txoj kev npaj kho mob rau koj tus menyuam qhov kev xav tau hloov pauv.Tsim ib txoj kev npaj saib xyuas tus kheej.

Muaj ntau tus niam txiv xav tsis thoob thiab tsis muaj zog tom qab kuaj pom tias muaj tus kab mob Lesch-Nyhan syndrome. Qhov no yog ib yam kab mob caj ces uas tsis tshua muaj thiab tsis muaj tshuaj kho tau. Txawm li cas los xij, kev kuaj pom thiab kho thaum ntxov tuaj yeem txhim kho tus menyuam lub neej zoo. Tham nrog koj tus kws kho mob txog kev kho mob zoo uas tuaj yeem ua qhov sib txawv thaum koj tus menyuam loj hlob tuaj.

Thaum kawg, cov lus coj mus tsev

Zoo, los ntawm qhov peb tau tham txog, kuv vam tias koj tau nkag siab txog Lesch-Nyhan Syndrome. Qhov no yog ib qho mob tsis tshua muaj, thiab nyuaj heev rau ib tug menyuam thiab tsev neeg.

• Qhov no yog ib yam kab mob caj ces: nws feem ntau kis tau los ntawm niam mus rau tus tub, lossis nws tuaj yeem tshwm sim los ntawm kev hloov pauv caj ces tshiab.
• Cov tsos mob tseem ceeb yog kev ua phem rau tus kheej: nws kuj ua rau muaj teeb meem ntawm cov leeg nqaij, cov mob xws li mob gout, thiab kev tsis taus kawm.
• Tsis muaj kev kho tau, tab sis cov tsos mob tuaj yeem tswj tau: nrog ntau yam kev kho mob thiab kev txhawb nqa ntawm pab pawg kws kho mob tshwj xeeb, peb tuaj yeem sim ua kom tus menyuam lub neej xis nyob li sai tau.
• Kev kuaj mob thaum ntxov yog qhov tseem ceeb heev: Yog tias koj pom cov tsos mob, nrhiav kev pab kho mob tam sim ntawd.
• Koj tsis nyob ib leeg: Nws yuav nyuaj rau kom muaj lub siab tawv hauv qhov xwm txheej zoo li no. Txawm li cas los xij, nrhiav kev txhawb nqa los ntawm cov kws kho mob, cov kws pab tswv yim, thiab cov neeg koj hlub.

Vam tias cov ntaub ntawv no yuav pab tau koj. Yog tias koj tus menyuam muaj cov tsos mob no, thov mus ntsib kws kho mob sai li sai tau.

` Lesch-Nyhan Syndrome, LNS, HPRT1 gene, uric acid, gout, kev ua phem rau tus kheej, kev mob caj ces, menyuam yaus, cov kab mob caj ces, uric acid