Mwana wako mudiki ane chirwere ichi chinoshamisa here? - Ngatidzidzei nezveLesch-Nyhan Syndrome

Mwana wako mudiki anozvikuvadza here? Wakambomuona achiruma miromo yake, achiruma minwe yake, kana kurovera musoro wake pane imwe nzvimbo here? Kana izvozvo zvikaitika, zvakajairika kuti iwe, saamai kana baba, unzwe kutya uye kunetseka zvikuru. Nhasi tichataura nezvechirwere chakakomba, asi chisingawanzoitiki chinonzi Lesch-Nyhan Syndrome. Ndinovimba kuti mushure mekuverenga izvi, uchawana kunzwisisa kwakajeka nezveizvi.

Chii chinonzi Lesch-Nyhan Syndrome? Ngatizvinzwisise zviri nyore!

Zvichitaurwa zviri nyore, Lesch-Nyhan Syndrome (LNS) chirwere chisingawanzoitiki chinowanikwa pakuzvarwa . Chinonyanya kukanganisa pfungwa dzemwana nemaitiro ake. Sezvatakambotaura, chimwe chezviratidzo zvikuru uye zvakanyanya zvechirwere ichi kuzvikuvadza kwemwana kusingadzoreki. Izvi zvinoreva zvinhu zvakaita sekuruma miromo yake, kuruma minwe yake, kana kurovera musoro wake pazvinhu zvakaita semadziro. Fungidzira kuti mwana mudiki anofanira kunzwa kurwadziwa kwakadii paanoita izvozvo.

Chirwere ichi chinokonzera huwandu hwakawanda hwe uric acid, tsvina inongoitika mumuviri wedu. Vaongorori vanofungidzira kuti LNS inokanganisawo huwandu hwe chemical messenger dopamine, iyo inokosha pakushanda zvakanaka kwehuropi.

Vana vane chirwere ichi, LNS, vanogona kuva nechirwere chearthritis chinorwadza chinonzi gout . Vanogonawo kunge vaine dystonia uye kutadza kushanda zvakanaka kwepfungwa.

Zvinosuwisa kuti hapana mushonga weLesch-Nyhan syndrome. Kufanotaura kwechirwere ichi hakuna kunaka. Zvisinei, nekurapwa kwakakodzera, zviratidzo zvemwana wako zvinogona kudzorwa, matambudziko anogona kuderedzwa, uye hupenyu hwake hunogona kuvandudzwa kusvika pamwero wakati.

Ndiani Anowana Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome chirwere chinoberekwa nhaka chemetabolic metabolic. Chinowanzo pfuudzwa kubva kuna amai kuenda kumwanakomana. Hachiwanzoitiki kuvasikana.

Zvisinei, dzimwe nguva, kunyangwe pasina munhu mumhuri akambova nechirwere ichi chemajini, chirwere ichi che'LNS' chinogonawo kuitika nekuda kwekuchinja kamwe kamwe '(mutation)' mune gene chaiyo '(HPRT1 gene)' mwana achiri kukura mudumbu. 'Kuongororwa kwemajini' kunogona kuona kana munhu ane gene iri rakagarwa nhaka kana kuti idzva.

Pane zvimwe zvirwere zvakaita seLesch-Nyhan syndrome (LHS) here?

Ehe, kune zvimwe zvirwere zvakawanda zvinoratidza zviratidzo zvakafanana ne'LNS'. Semuenzaniso, 'autism spectrum disorder' uye 'cerebral palsy' zvese zvine zviratidzo zvakafanana ne'LNS'.Saka, zvakakosha zvikuru kuti mwana wako awane chirwere chakakodzera kuti awane kurapwa kwakakodzera.

Heano mamwe mamiriro akafanana ne `LNS`:

• Cornelia de Lange syndrome - Ichi chirwere chinokonzerwawo nekukura kwemwana.
• Kusazvidzora kwemhuri.
• Chirwere cheFragile X.
• Kushaikwa kweglucose 6-phosphate dehydrogenase (G6PD) - Ichi chirwere chemajini chinokanganisa masero matsvuku eropa.
• `Neuropathy yepfungwa inogarwa nhaka`.
• Chirwere cheHuntington.
• Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Izvi zvinokonzeresawo kugadzirwa kweuric acid yakawandisa.
• 'Rett syndrome'.
• "Tourette syndrome".

Kune mhando dzakasiyana dzeLesch-Nyhan syndrome (LHS) here?

Rudzi rwakajairika rwechirwere ichi, runonzi Classic Lesch-Nyhan syndrome (LNS), rwakanyanya kuipa . Runokonzera matambudziko emuviri, epfungwa, uye ehunhu. Zvisinei, kune mamwe marudzi asina kunyanya kuoma echirwere ichi. Vana vane mhando idzi vane zviratidzo zvishoma. Havawanzozvikuvadza uye havazokwanisi kufambisa muviri.

Mhando dzakadaro dzakapfava ndedzi:

• `Basa repfungwa rine chekuita neHPRT1 (HND)`.
• `HPRT1-related hyperuricemia (Kelley–Seegmiller syndrome)` (HPRT1-related hyperuricemia - Kelley–Seegmiller syndrome) - Iyi ndiyo mhando isina kunyanya kuipa.

Ndeapi mamwe mazita aripo eLesch-Nyhan syndrome (LHS)?

Chirwere ichi chinozivikanwawo nemamwe mazita akati wandei. Aya ndiwo:

• `Choreoathetosis self-injuration syndrome`
• `Kushomeka kwakakwana kwe hypoxanthine-guanine phosphoribosyltransferase`
• `Gout yevana`
• `Juvenile hyperuricemia syndrome`
• `Kelley-Seegmiller syndrome`
• `Lesch Nyhan disease (LND)`
• `Primary hyperuricemia syndrome`
• `Kushomeka kwese kweHPRT`
• `X-linked hyperuricemia`

Lesch-Nyhan Syndrome (LHS) yakajairika zvakadii?

Chirwere cheLesch-Nyhan chirwere chisingawanzoitiki . Chinobata munhu mumwe chete pavanhu 380,000 . Chinowanzoonekwawo muvakomana. Chirwere ichi chakatanga kuzivikanwa muna 1964.

Chii chinokonzera Lesch-Nyhan Syndrome (LHS)?

Chikonzero chikuru cheizvi ndechekutiKuchinja, kana kuti kuchinja, mune rimwe jini rinonzi `HPRT1 gene`. Iri jini re`HPRT1` rinogadzira enzyme inokosha zvikuru inonzi `HPRT`. Enzyme rudzi rweprotein inokurumidza kuita makemikari mumuviri wedu uye inobatsira muviri kushanda zvakanaka.

Fungidzira zvinoitika kana iyi enzyme ye'HPRT' isingashande nemazvo. MuLesch-Nyhan syndrome, muviri haugone kushandisa makemikari anonzi 'purines' nemazvo . Kana ma purines aya akasashandiswa nemazvo, anoshanduka kuita 'uric acid'. Iyi tsvina iri muropa redu.

Kazhinji, chikamu chikuru che "uric acid" iyi chinopfuura nemuitsvo uye chinoburitswa muweti. Zvisinei, muLesch-Nyhan syndrome, `uric acid` (uric acid) inoungana mumuviri zvakanyanya (hyperuricemia) .

Uric acid iyi yakawandisa inosara sematombo madiki, kana kuti makristaro eurate, muganda, mumaoko, netsoka. Makristaro aya anogona kukuvadza majoini uye kukonzera chirwere chinonzi gout.

Uyewo, matombo madiki aya anogona kuumbwa muitsvo kana dundira, zvichivhara kuyerera kweweti uye zvichikonzera kurwadziwa. Mune zvimwe zviitiko zvakakomba, itsvo dzese dzinogona kumira kushanda (kutadza kushanda kweitsvo).

Ndezvipi zviratidzo zveLesch-Nyhan Syndrome (LHS)?

Zviratidzo zvevana vane chirwere cheLesch-Nyhan zvinokanganisa kugona kwavo kufunga, mafambiro, uye maitiro . Kusasimba mukutonga tsandanyama uye kunonoka kukura kwemuviri ndezvimwe zvezviratidzo zvekutanga zvechirwere ichi.

Vamwe vacheche vanogona kunge vaine makristaro eorenji mumanapukeni avo kana vaine uric acid yakawandisa mumuviri wavo. Zvisinei, vacheche vazhinji vane chirwere ichi havaratidzi zviratidzo zviri pachena kusvika vava nemwedzi mina.

Kune zviratidzo zvakawanda zvinogona kuonekwa nevabereki navanachiremba. Ngatizvitarisei chimwe nechimwe:

Kuzvikuvadza iwe pachako uye vamwe

Kuzvikuvadza kwemunhu asingamanikidzwi chiratidzo cheLesch-Nyhan syndrome, chirwere chinoitika mushure mekunge mwana atanga kubuda mazino. Maitiro aya anowanzo sanganisira:

• Kurova musoro wako kana makumbo pane imwe nzvimbo.
• Kuruma miromo, minwe, nematama.
• Kuruma mumaziso.

Dzimwe nguva, vana vane chirwere ichi vanoedza kukuvadza vamwe. Vanogona kutuka vamwe nemashoko, kubata, kurova, kuruma, kana kusvipira vamwe . Zvinofanira kunge zvichisuwisa uye zvisina simba kuti amai kana baba vaone izvi, handiti?

Matambudziko emhasuru nekufamba

Zvimwe zviratidzo zvinowanzoonekwa matambudziko ekudzora tsandanyama. Izvi zvinosanganisira:

• Ballismus kufamba kunodzokororwa kwemaoko kana tsoka nenzira imwecheteyo.
• Kuomerwa nekukambaira, kufamba, kana kudya nemaoko ako.
• Kuoma kumedza (dysphagia).
• Kureruka kwemuviri (Hyperreflexia).
• Kukotama kwemusana nekuda kwekukwenya tsandanyama `(opisthotonos)`.
• Kufamba-famba kusingatarisirwi (dystonia) kana kuchinja kwechiso.
• Kufamba-famba, kumonyoroka, uye kumonyoroka kusingatarisirwi (choreoathetosis).
• Kufamba-famba kamwe kamwe (chorea).
• Kusafamba zvakanaka nekuda kwekuoma kwetsandanyama kana kuomarara (spasticity).
• Kusanzwisisa mashoko kana kutaura zvishoma nezvishoma (dysarthria).

Matambudziko ehutano

Vana vane chirwere cheLesch-Nyhan vanogona kuva nematambudziko ehutano nekuda kwekuunganidzwa kwe `uric acid` mumuviri. Izvi zvinosanganisira:

• Matombo edundira.
• Kukundikana kweitsvo.
• Matombo eitsvo.
• Gout.
• Kushaya simba kweropa kunokonzerwa nekushaya vhitamini B12.
• Kurutsa kakawanda.

Matambudziko ekudzidza

Vana vanogonawo kuva nematambudziko akadai se:

• Kuremara pakudzidza.
• Matambudziko epfungwa akadai sekutadza kurangarira kana kusanyatsoteerera.
• Kuomerwa nekuronga zvinhu zvakaoma.

Lesch-Nyhan Syndrome (LHS) inoonekwa sei?

Unogona kuona zviratidzo mumwana wako. Kana kuti, chiremba anogona kuona maitiro asina kujairika panguva yekuongororwa nguva dzose. Vanachiremba vanoongorora chirwere cheLesch-Nyhan nekuongororwa kwemuviri .

Vachabvunzawo nezvezviratidzo zvemwana wenyu uye nhoroondo yezveutano hwemhuri. Vachatsvagawo zviratidzo zvakaita se:

• Kunonoka kukura kwemwana.
• Kuongororwa ropa kana weti ndiko kucharatidza kana huwandu hwe uric acid mumuviri wako hwakwira.
• Maitiro ekuzvikuvadza.

Ndezvipi zvimwe zvidzidzo zvinobatsira pakuongorora chirwere?

Chiremba wako anogona kukurudzira kuongororwa ropa uye kuongororwa kwemajini kuti asimbise kuongororwa uye kubvisa zvimwe zvirwere. Kuongororwa kwemajini kunosanganisira kutora sampuli diki yeropa. Mushure mekuongororwa kwemajini, mupi wezano wemajini achataura newe nezvemhedzisiro yacho.

Kana mumwe munhu mumhuri mako aine chirwere cheLesch-Nyhan, uye iwe une pamuviri, taura nachiremba wako nezvazvo. Chiremba wako anogona kukurudzira kuongororwa kwemwana asati aberekwa, kunyanya kana uchiziva kuti mwana wako mukomana. Kuongororwa uku kwemwana asati aberekwa kunogona kusanganisira:

• Amniocentesis.
• Kuongororwa kweChorionic Villus.

Pane mushonga weLesch-Nyhan Syndrome (LHS) here?

Zvinosuwisa kuti hapana mushonga weLesch-Nyhan syndrome, uye nzira dzekurapa dzakaganhurirwa. Zvisinei, varapi vezvehutano vanogona kukubatsira iwe nemwana wako kugadzirisa zviratidzo uye kuwana hupenyu hwakanaka.

Ndiani achave ari muchikwata chekurapa mwana wangu cheLesch-Nyhan Syndrome (LHS)?

Kana mwana wako aine chirwere cheLesch-Nyhan, timu yevanachiremba vakasiyana nevashandi vehutano vanowanzo taura nezvezviratidzo zvese izvi. Chikwata ichi chinogona kusanganisira:

• Nyanzvi yezvemajini.
• Nyanzvi yeitsvo (nephrologist).
• Chiremba wetsinga.
• Nyanzvi yekurapa mabasa.
• Chiremba wevana.
• Nyanzvi yekurapa muviri.
• Mushandi wezvemagariro evanhu.
• Nyanzvi yezvirwere zvemutauro wekutaura.
• Chiremba ane ruzivo nezvehurongwa hweweti (urologist).

Lesch-Nyhan Syndrome (LHS) inorapwa sei?

Kurapwa kweLesch-Nyhan syndrome kunoenderana nezviratidzo zvemwana wako uye kuoma kwazvo.

Vacheche nevana vadiki vangada kutarisirwa zvakanyanya uye rutsigiro pakudyisa .

Chiremba wako anogona kukurudzira zvinhu zvakaita se:

• Mishonga yekudzora huwandu hwakawanda hwe uric acid kana kuderedza matambudziko ehunhu.
• Kubatsira pakudyisa kana kumedza.
• Zvishandiso zvekubatsira, zvakaita sewiricheya, zvinoita kuti kufamba kuve nyore.
• Kurapa muviri uye kurapwa kwebasa.
• Zvishandiso zvekudzivirira zvakaita sechivharo kana chinodzivirira muromo kudzivirira mafambiro asina kurongeka akadai sekurumwa neminwe.
• Maitiro akadai se shockwave lithotripsy kana laser lithotripsy kupwanya matombo eitsvo kana edundira.

Ndingaderedza here njodzi yemwana wangu yekubatwa neLesch-Nyhan Syndrome (LHS)?

Kutaura zvazviri, hapana nzira yekudzivirira chirwere cheLesch-Nyhan. Chinokonzerwa nekuchinja kwemajini (kuchinja kwemajini) kunoitika mwana achiri kukura mudumbu. Hapana chaunoita chinogona kukonzera chirwere ichi. Yeuka izvozvo. Mune zvimwe zviitiko, kuongororwa kwemwana asati aberekwa kunogona kuitwa kuti kuonekwe kushanduka kwemajini.

Ndeipi tarisiro yemwana ane chirwere cheLesch-Nyhan (LHS)?

Maonero evana vane chirwere cheLesch-Nyhan anowanzova asina kunaka . Kazhinji havagone kufamba uye vanoda wiricheya. Vazhinji vane nguva pfupi yekurarama . Nekuda kwematambudziko echirwere ichi, hazviwanzoitiki kuti vanhu vararame makore anopfuura makumi maviri. Zvisinei, timu yekurapa inogona kukubatsira iwe nemwana wako kugadzirisa zviratidzo uye kubatsira mwana wako kuti agare akasununguka uye achishanda sezvinobvira.

Ndirini pandinofanira kutsvaga mazano ekurapwa kwemwana wangu?

Zvakakosha kuziva chirwere cheLesch-Nyhan nekukurumidza . Vanachiremba vanogona kukupa iwe nemwana wako rutsigiro rwunogara ruchienderera mberi uye zororo rezviratidzo. Chiremba wako achashanda newe kuti agadzire hurongwa hwekurapa hunoenderana nezvinodiwa nemwana wako zvinochinja.Anogadzira hurongwa hwekutarisira hwakagadzirirwa munhu wega.

Vabereki vazhinji vanonzwa kushamisika kukuru uye kushaya simba mushure mekuonekwa kuti vane chirwere cheLesch-Nyhan. Zvinonzwisisika kuti ichi chirwere chisingawanzoitiki chine majini chisina mushonga. Zvisinei, kuonekwa nekukurumidza uye kurapwa kunogona kuvandudza hupenyu hwemwana zvakanyanya. Taura nachiremba wako nezvekurapa kunoshanda kunogona kuita mutsauko mwana wako paanokura.

Pakupedzisira, meseji yekudzokera nayo kumba

Zvakanaka, kubva pane zvatataura nezvazvo, ndinovimba kuti mawana rumwe ruzivo nezveLesch-Nyhan Syndrome. Ichi chirwere chisingawanzoitiki, uye chinonetsa zvikuru kumwana nemhuri.

• Ichi chirwere chemajini: chinowanzo pfuudzwa kubva kuna amai kuenda kumwanakomana, kana kuti chinogona kukonzerwa nekuchinja kwemajini kutsva.
• Chiratidzo chikuru kuzvikuvadza: zvinokonzeresawo matambudziko emhasuru, zvirwere zvakaita segout, uye matambudziko ekudzidza.
• Hakuna mushonga, asi zviratidzo zvinogona kudzorwa: nekurapwa kwakasiyana-siyana uye rutsigiro rwechikwata chevanachiremba vane hunyanzvi, tinogona kuedza kuita kuti hupenyu hwemwana huve hwakanaka sezvinobvira.
• Kuongororwa kwechirwere nekukurumidza kwakakosha zvikuru: Kana ukaona zviratidzo, tsvaga rubatsiro rwechiremba nekukasika.
• Hausi wega: Zvinogona kuoma kuramba wakasimba mupfungwa mumamiriro ezvinhu akadai. Zvisinei, tsvaga rubatsiro kubva kuna vanachiremba, vanopa mazano, nevadikanwi.

Ndinovimba ruzivo urwu ruchakubatsira. Kana mwana wako aine chimwe chezviratidzo izvi, ndapota ona chiremba ane hunyanzvi nekukurumidza.

Lesch -Nyhan Syndrome, LNS, HPRT1 gene, uric acid, gout, kuzvikuvadza, chirwere chemajini, vana, zvirwere zvemajini, uric acid