Ese umwana wawe afite iyi ndwara idasanzwe? - Reka twige kuri Lesch-Nyhan Syndrome

Ese umwana wawe yikomeretsa? Wigeze umubona aruma iminwa ye, aruma intoki ze, cyangwa akubita umutwe ahantu runaka? Iyo bibaye, ni ibisanzwe kuri wewe, nk'umubyeyi cyangwa papa, kumva ufite ubwoba bwinshi kandi uhangayitse. Uyu munsi tugiye kuvuga ku ndwara ikomeye cyane, ariko idakunze kugaragara yitwa Lesch-Nyhan Syndrome. Nizeye ko nyuma yo gusoma ibi, uzasobanukirwa neza ibi.

Lesch-Nyhan Syndrome ni iki? Reka tubisobanukirwe mu buryo bworoshye!

Mu magambo make, Lesch-Nyhan Syndrome (LNS) ni indwara idakunze kugaragara cyane igaragara mu gihe cyo kuvuka . Igira ingaruka cyane ku bwonko bw'umwana n'imyitwarire ye. Nkuko twabivuze mbere, kimwe mu bimenyetso by'ingenzi kandi bikomeye by'iyi ndwara ni ukwibabaza k'umwana mu buryo butunguranye. Ibyo bivuze ibintu nko kuruma iminwa ye, kuruma intoki ze, cyangwa gukubita umutwe we ku bintu nk'urukuta. Tekereza ububabare umwana muto agomba kugira iyo abikoze.

Iyi ndwara itera urugero rwinshi rwa aside uric, imyanda isanzwe mu mibiri yacu. Abashakashatsi bakeka ko LNS igira ingaruka ku rugero rwa dopamine y’ibinyabutabire, ikaba ari ingenzi ku mikorere myiza y’ubwonko.

Abana bafite iyi ndwara, LNS, bashobora kugira indwara ikomeye kandi ibabaza ya rubagimpande yitwa goutte . Bashobora kandi kugira dystonia no kudakora neza mu mutwe.

Ikibabaje ni uko nta muti uhari wa Lesch-Nyhan syndrome. Uko indwara ihagaze ntabwo ari nziza. Ariko, iyo uvuwe neza, ibimenyetso by'umwana wawe bishobora kugenzurwa, ingorane zishobora kugabanuka, ndetse n'imibereho ye ikarushaho kuba myiza ku rugero runaka.

Ninde urwara indwara ya Lesch-Nyhan?

Lesch-Nyhan syndrome ni indwara iterwa n'umubiri uvukana. Akenshi ihererekanywa kuva kuri nyina kugeza ku muhungu. Ni gake cyane ku bakobwa.

Ariko, rimwe na rimwe, nubwo nta muntu n'umwe mu muryango wigeze agira iyi ndwara y’uturemangingo mbere, iyi ndwara ya `LNS` ishobora no guterwa n’impinduka zitunguranye `(mutation)` muri `gene` runaka `(HPRT1 gene)` mu gihe umwana arimo gukura mu nda. `Gupima `uturemangingo` bishobora kumenya niba umuntu afite iyi mihindagurikire y’uturemangingo yarazwe cyangwa ko ari mushya.

Ese hari izindi ndwara zisa n'indwara ya Lesch-Nyhan syndrome (LHS)?

Yego, hari izindi ndwara nyinshi zigaragaza ibimenyetso bisa na 'LNS'. Urugero, 'autism spectrum disorder' na 'cerebral palsy' byombi bifite ibimenyetso bisa na 'LNS'.Kubwibyo, ni ngombwa cyane kubona isuzuma ryimbitse kugira ngo umwana wawe ahabwe ubuvuzi bukwiye.

Dore izindi ndwara zisa na `LNS`:

• Indwara ya Cornelia de Lange - Iyi nayo ni indwara y'iterambere.
• Kutagira ubwikorezi mu muryango.
• Indwara ya Fragile X.
• Kubura glucose 6-phosphate dehydrogenase (G6PD) - Iyi ni indwara iterwa n'uturemangingo tw'amaraso dutukura.
• `Indwara y'imitsi yo mu bwonko ikomoka ku ruhererekane`.
• Indwara ya Huntington.
• Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Ibi kandi binatera umusaruro mwinshi wa aside urique.
• "Indwara ya Rett".
• "Indwara ya Tourette".

Ese hari ubwoko butandukanye bwa Lesch-Nyhan syndrome (LHS)?

Ubwoko bukunze kugaragara bw'iyi ndwara, bwitwa Classic Lesch-Nyhan syndrome (LNS), burakomeye cyane . Itera ibibazo by'umubiri, ibyo mu mutwe, n'imyitwarire. Ariko, hari ubundi bwoko bw'iyi ndwara budakomeye . Abana bafite ubwo bwoko bw'indwara bagira ibimenyetso bike cyane. Nanone kandi, ntibakunze kwiyangiza no kugira ibibazo byo kugenda.

Ubwoko nk'ubwo bworoshye ni ubu:

• `Umukorere w'imitsi ufitanye isano na HPRT1 (HND)`.
• `Hyperuricemia ifitanye isano na HPRT1 (syndrome ya Kelley–Seegmiller)` (Hyperuricemia ifitanye isano na HPRT1 - Kelley–Seegmiller) - Ubu ni bwo bwoko bworoheje cyane.

Ni ayahe mazina yandi aboneka kuri Lesch-Nyhan syndrome (LHS)?

Iyi ndwara izwi kandi ku mazina menshi. Ayo mazina ni aya:

• "Indwara yo kwikemurira indwara ya choreoathetosis"
• `Ibura ryuzuye rya hypoxanthine-guanine phosphoribosyltransferase`
• `Gute y'abana`
• `Indwara ya hyperuricemia y'abana`
• `Indwara ya Kelley-Seegmiller`
• `Indwara ya Lesch Nyhan (LND)`
• `Indwara y'ibanze ya hyperuricemia`
• `Ubukene bwose bwa HPRT`
• ``Hyperuricemia ifitanye isano na X``

Indwara ya Lesch-Nyhan Syndrome (LHS) ikunze kugaragara gute?

Lesch-Nyhan syndrome ni indwara idakunze kugaragara cyane . Ifata umuntu umwe ku bantu 380.000 . Ikunze no kugaragara cyane ku bahungu. Iyi ndwara yamenyekanye bwa mbere mu 1964.

Ni iki gitera Lesch-Nyhan Syndrome (LHS)?

Impamvu nyamukuru ibi niImpinduka, cyangwa impinduka, muri gene runaka yitwa `gene ya HPRT1`. Iyi gene ya `HPRT1` ikora enzyme y'ingenzi cyane yitwa `HPRT`. enzyme ni ubwoko bwa poroteyine yihutisha ibikorwa bya shimi (metabolism) mu mubiri wacu kandi igafasha umubiri gukora neza.

Tekereza uko bigenda iyo iyi enzyme ya `HPRT` idakora neza. Muri Lesch-Nyhan syndrome, umubiri ntushobora gukoresha neza imiti yitwa `purine` . Iyo izi purine zidakoreshejwe neza, zihinduka `aside urique`. Iyi ni imyanda mu maraso yacu.

Ubusanzwe, igice kinini cy'iyi 'aside uric' inyura mu mpyiko igasohokera mu nkari. Ariko, muri Lesch-Nyhan syndrome, 'aside uric' (aside uric) yiyongera mu mubiri cyane (hyperuricemia) .

Iyi aside uric nyinshi yishyira mu mabuye mato, cyangwa utubuye duto twa urate, mu ruhu, mu biganza no mu birenge. Izi aside zishobora kwangiza ingingo no gutera indwara yitwa goutte.

Nanone, utu tubuye duto dushobora kwirema mu mpyiko cyangwa mu ruhago, bigahagarika inzira y'inkari no gutera ububabare. Mu bihe bimwe na bimwe bikomeye, impyiko zombi zishobora guhagarika gukora (kunanirwa kw'impyiko).

Ni ibihe bimenyetso by'indwara ya Lesch-Nyhan Syndrome (LHS)?

Ibimenyetso ku bana barwaye Lesch-Nyhan syndrome bigira ingaruka ku bushobozi bwabo bwo mu mutwe, ku ngendo zabo, no ku myitwarire yabo . Intege nke mu kugenzura imitsi no gutinda gukura ni bimwe mu bimenyetso bya mbere by'iyi ndwara.

Hari abana bashobora kugira kristu z'umuhondo mu mashereka yabo iyo bafite aside irike nyinshi mu mubiri wabo. Ariko, abana benshi bafite iyi ndwara ntibagaragaza ibimenyetso bigaragara kugeza bagejeje ku mezi ane.

Hariho ibimenyetso byinshi ababyeyi n'abaganga bashobora kubona. Reka tubirebe kimwe kimwe:

Kwiyangiza no kugirira nabi abandi

Kwibabaza ku buryo bukabije ni ikimenyetso cy’indwara ya Lesch-Nyhan, indwara ibaho umwana amaze gutangira kumera amenyo. Iyi myitwarire ikunze kuba ikubiyemo:

• Gukubita umutwe wawe cyangwa amaguru yawe ahantu runaka.
• Kuruma iminwa, intoki, n'amatama.
• Kuruma mu maso.

Hari igihe abana bafite iyi ndwara bagerageza kugirira nabi abandi. Bashobora gutukana, gufata, gukubita, kuruma, cyangwa kubacira amacandwe . Bigomba kuba bibabaje kandi bitagira icyo bitanga kuri nyina cyangwa se kubibona, si byo se?

Ibibazo by'imitsi n'imigendere

Ibindi bimenyetso bikunze kugaragara ni ibibazo byo kugenzura imitsi. Ibi birimo:

• Ballismus ni ukwimuka kw'amaboko cyangwa ibirenge mu buryo bumwe.
• Kugorwa no gukurura, kugenda, cyangwa kurya n'amaboko yawe.
• Kugorwa no kumira (dysphagia).
• Hyperreflexia.
• Kunama k'umugongo bitewe no kubyimba kw'imitsi `(opisthotonos)`.
• Imikorere idakozwe ku bushake (dystonia) cyangwa impinduka mu miterere y'isura.
• Kuzunguruka, kuzunguruka no kuzunguruka bidaturutse ku bushake (choreoathetosis).
• Imigendere itunguranye yo gutitira (chorea).
• Kunanirwa kugenda bitewe no gukomera cyangwa gukomera kw'imitsi (spasticity).
• Gutungurana kw'amagambo cyangwa kuvuga buhoro (dysarthria).

Ibibazo by'ubuzima

Abana barwaye Lesch-Nyhan syndrome bashobora kugira ibibazo bimwe na bimwe by'ubuzima bitewe n'ubwiyongere bwa 'aside uric' mu mubiri. Muri ibyo harimo:

• Amabuye y'inkari.
• Kunanirwa kw'impyiko.
• Amabuye yo mu mpyiko.
• Gute.
• Kubura kwa Megaloblastic Anemia biterwa no kubura Vitamine B12.
• Kuruka kenshi.

Ibibazo byo kwiga

Abana bashobora kandi kugira ibibazo nk'ibi:

• Ubumuga bwo kwiga.
• Ingorane zo mu mutwe nko kubura kwibuka cyangwa kugabanya ubushobozi bwo kwita ku bintu.
• Kugorwa no gutegura ibintu bigoye.

Indwara ya Lesch-Nyhan Syndrome (LHS) ipimwa ite?

Ushobora kubona ibimenyetso ku mwana wawe. Cyangwa, muganga ashobora kubona imyitwarire idasanzwe mu gihe cyo kumusuzuma. Abaganga basuzuma indwara ya Lesch-Nyhan bakoresheje isuzuma ry'umubiri .

Bazabaza kandi ibimenyetso by'umwana wawe n'amateka y'ubuzima bw'umuryango. Bazashaka kandi ibimenyetso nka:

• Gutinda mu iterambere.
• Gupima amaraso cyangwa inkari bizagaragaza niba urugero rwa aside urique yawe ruri hejuru.
• Imyitwarire yo kwiyangiza.

Ni ibihe bipimo bindi bifasha mu gusuzuma indwara?

Muganga wawe ashobora kukugira inama yo gupima amaraso no gupima imiterere y’umubiri kugira ngo yemeze ko wanduye kandi hakamenyekana ko nta zindi ndwara. Gupima imiterere y’umubiri bikubiyemo gufata icyitegererezo gito cy’amaraso. Nyuma yo gupima imiterere y’umubiri, umujyanama mu by’imiterere y’umubiri azakubwira ibyavuye mu bisubizo.

Niba hari umuntu wo mu muryango wawe ufite indwara ya Lesch-Nyhan, kandi utwite, ganira na muganga wawe kuri iyo ngingo. Muganga wawe ashobora kukugira inama yo gupima umwana utwite, cyane cyane niba uzi ko umwana wawe ari umuhungu. Iki gipimo cyo gupima umwana utwite gishobora kuba kirimo:

• Amniocentesis.
• Gupima virusi ya chorionic.

Ese hari umuti wa Lesch-Nyhan Syndrome (LHS)?

Ikibabaje ni uko nta muti uhari wa Lesch-Nyhan syndrome, kandi uburyo bwo kuyivura ni buke. Ariko, abashinzwe ubuvuzi bashobora kugufasha wowe n'umwana wawe guhangana n'ibimenyetso no kugera ku mibereho myiza.

Ni nde uzaba ari mu itsinda ry’abana banjye bavura indwara ya Lesch-Nyhan Syndrome (LHS)?

Niba umwana wawe afite Lesch-Nyhan syndrome, itsinda ry'inzobere zitandukanye n'abakozi bo mu rwego rw'ubuzima bazajya bagaragaza ibimenyetso byose bitandukanye. Iri tsinda rishobora kuba rigizwe na:

• Inzobere mu by'imiterere y'uturemangingo.
• Inzobere mu ndwara z'impyiko (nephrologist).
• Inzobere mu ndwara z'imitsi.
• Umuganga w’inzobere mu by’ubuzima bw’imyororokere.
• Umuganga w'abana.
• Umuganga w’umubiri.
• Umukozi ushinzwe imibereho myiza y'abaturage.
• Inzobere mu ndwara z'imivugire.
• Umuganga w’inzobere mu kuvura inkari (urologist).

Indwara ya Lesch-Nyhan Syndrome (LHS) ivurwa ite?

Uburyo bwo kuvura indwara ya Lesch-Nyhan buterwa n'ibimenyetso by'umwana wawe n'ubukana bwabyo.

Impinja n'abana bato bashobora gukenera gukurikiranwa no gushyigikirwa by'inyongera mu kugaburira abana .

Umuganga wawe ashobora kukugira inama y'ibintu nk'ibi:

• Imiti yo kugenzura urugero ruri hejuru rw'aside uric cyangwa kugabanya ibibazo by'imyitwarire.
• Ubufasha mu kugaburira cyangwa kumira.
• Ibikoresho byo gufasha umuntu, nk'igare ry'abamugaye, kugira ngo byoroshye kugenda.
• Ubuvuzi bw'umubiri n'ubuvuzi bw'akazi.
• Ibikoresho byo kwirinda nko gupfuka cyangwa gukingira umunwa kugira ngo birinde ingendo zidakorwa ku bushake nko kuruma intoki.
• Uburyo nka shockwave lithotripsy cyangwa laser lithotripsy bwo kumenagura amabuye y'impyiko cyangwa uruhago.

Ese nshobora kugabanya ibyago by'umwana wanjye byo kurwara Lesch-Nyhan Syndrome (LHS)?

Mu by’ukuri, nta buryo bwo kwirinda Lesch-Nyhan syndrome. Iterwa n’impinduka mu miterere y’uturemangingo (mutations) ziba mu gihe umwana arimo gukura mu nda. Nta kintu na kimwe ukora gishobora gutera iyi ndwara. Wibuke ko hari igihe gupimwa mbere yo kubyara bishobora gukorwa kugira ngo hamenyekane impinduka mu miterere y’uturemangingo.

Ni iki kizere cy’umwana urwaye Lesch-Nyhan syndrome (LHS)?

Muri rusange, icyizere cy’abana barwaye Lesch-Nyhan syndrome ni gito . Akenshi ntibashobora kugenda kandi bakeneye intebe y’abamugaye. Benshi baba bafite igihe gito cyo kubaho . Bitewe n’ingorane ziterwa n’iyi ndwara, ni gake abantu bapfa barengeje imyaka 20. Ariko, itsinda rishinzwe kuvura rishobora kugufasha wowe n’umwana wawe guhangana n’ibimenyetso no gufasha umwana wawe kuguma amerewe neza kandi akora neza uko bishoboka kose.

Ni ryari nkwiye gushaka inama z'abaganga ku mwana wanjye?

Ni ngombwa kumenya indwara ya Lesch-Nyhan hakiri kare . Abaganga bashobora kuguha wowe n'umwana wawe ubufasha buhoraho no kugabanya ibimenyetso. Muganga wawe azakorana nawe kugira ngo ahuze gahunda y'ubuvuzi ijyanye n'ibyo umwana wawe akeneye bihinduka.Akora gahunda y'ubuvuzi yihariye.

Ababyeyi benshi bumva batangaye cyane kandi badafite icyo bakora nyuma yo gufatwa n'indwara ya Lesch-Nyhan. Birumvikana ko iyi ari indwara idakunze kugaragara mu buryo bw'uturemangingo kandi idafite umuti. Ariko, kuyimenya hakiri kare no kuyivura bishobora gutuma ubuzima bw'umwana burushaho kuba bwiza. Vugana na muganga wawe ku miti ivura neza ishobora kugira icyo ihindura uko umwana wawe akura.

Amaherezo, ubutumwa bwo kujyana mu rugo

Sawa, rero ukurikije ibyo twavuze, ndizera ko wabonye ibisobanuro kuri Lesch-Nyhan Syndrome. Iyi ni indwara idasanzwe kandi igoye cyane ku mwana no ku muryango.

• Iyi ni indwara iterwa n'uturemangingo: akenshi ikwirakwizwa kuva kuri nyina kugeza ku mwana we, cyangwa ishobora guterwa n'impinduka nshya mu turemangingo.
• Ikimenyetso nyamukuru ni ukwibabaza: binatera ibibazo by'imitsi, indwara nka goutte, n'ubumuga bwo kwiga.
• Nta muti uhari, ariko ibimenyetso birashobora gukemurwa: hamwe n'uburyo butandukanye bwo kuvura no gushyigikirwa n'itsinda ry'abaganga b'inzobere, dushobora kugerageza gutuma ubuzima bw'umwana burushaho kuba bwiza uko bishoboka kose.
• Gusuzuma hakiri kare ni ingenzi cyane: Nubona ibimenyetso, shaka ubufasha bwa muganga ako kanya.
• Ntabwo uri wenyine: Birashoboka ko bigoye gukomeza kugira ubwenge bukomeye mu bihe nk'ibi. Ariko, shaka ubufasha ku baganga, abajyanama n'abakunzi bawe.

Ndizera ko aya makuru azagufasha. Niba umwana wawe afite kimwe muri ibi bimenyetso, nyamuneka reba muganga wujuje ibisabwa vuba bishoboka.

Lesch -Nyhan Syndrome, LNS, gene ya HPRT1, aside urike, goutte, kwikomeretsa, indwara y’uturemangingo, abana, indwara z’uturemangingo, aside urike