Kodi mwana wanu ali ndi matenda achilendo awa? - Tiyeni tiphunzire za Lesch-Nyhan Syndrome

Kodi mwana wanu amadzipweteka yekha? Kodi munamuonapo akuluma milomo yake, akuluma zala zake, kapena akumenya mutu wake kwinakwake? Zimenezi zikachitika, ndi zachilendo kuti inu, monga mayi kapena bambo, mumve mantha komanso nkhawa kwambiri. Lero tikambirana za matenda oopsa koma osowa kwambiri otchedwa Lesch-Nyhan Syndrome. Ndikukhulupirira kuti mukatha kuwerenga izi, mudzamvetsa bwino nkhaniyi.

Kodi Lesch-Nyhan Syndrome ndi chiyani? Tiyeni timvetse mosavuta!

Mwachidule, Lesch-Nyhan Syndrome (LNS) ndi vuto losowa kwambiri lomwe limapezeka pobadwa . Limakhudza kwambiri ubongo ndi khalidwe la mwana. Monga tanenera kale, chimodzi mwa zizindikiro zazikulu komanso zoopsa kwambiri za matendawa ndi kudzivulaza kwa mwana mosadziletsa. Izi zikutanthauza zinthu monga kuluma milomo yake, kuluma zala zake, kapena kugogoda mutu wake pazinthu monga khoma. Tangoganizirani ululu womwe mwana wamng'ono amamva akachita zimenezo.

Matendawa amayambitsa kuchuluka kwa uric acid, zomwe zimachitika mwachibadwa m'thupi lathu. Ofufuza akuganiza kuti LNS imakhudzanso kuchuluka kwa mankhwala otchedwa chemical messenger dopamine, omwe ndi ofunikira kuti ubongo ugwire bwino ntchito.

Ana omwe ali ndi vutoli, LNS, amatha kukhala ndi nyamakazi yopweteka kwambiri yotchedwa gout . Akhozanso kukhala ndi dystonia komanso kulephera kwa maganizo.

Mwatsoka, palibe mankhwala a matenda a Lesch-Nyhan. Matendawa si abwino. Komabe, ndi chithandizo choyenera, zizindikiro za mwana wanu zimatha kuchepetsedwa, mavuto amatha kuchepetsedwa, ndipo moyo wabwino ukhoza kusinthidwa pang'ono.

Ndani Amalandira Lesch-Nyhan Syndrome?

Matenda a Lesch-Nyhan ndi matenda obadwa nawo a kagayidwe kachakudya. Nthawi zambiri amapatsirana kuchokera kwa mayi kupita kwa mwana wamwamuna. Ndi osowa kwambiri mwa atsikana.

Komabe, nthawi zina, ngakhale palibe m'banjamo amene adadwalapo matendawa, vuto la `LNS` limeneli lingachitikenso chifukwa cha kusintha kwadzidzidzi `(mutation)` mu jini inayake `(jini la HPRT1)` pamene mwana akukula m'mimba. `Kuyesa majini` kumatha kudziwa ngati munthu ali ndi kusintha kwa majini kumeneku kapena wangobadwa kumene.

Kodi pali matenda ena omwe amafanana ndi matenda a Lesch-Nyhan (LHS)?

Inde, pali matenda ena angapo omwe amasonyeza zizindikiro zofanana ndi `LNS`. Mwachitsanzo, `autism spectrum disorder` ndi `cerebral palsy` zonse zili ndi zizindikiro zofanana ndi `LNS`.Choncho, ndikofunikira kwambiri kupeza matenda olondola kuti mwana wanu alandire chithandizo choyenera.

Nazi zina mwa matenda omwe ali ofanana ndi `LNS`:

• Matenda a Cornelia de Lange - Ichinso ndi vuto la chitukuko.
• Kusadziletsa kwa mabanja.
• Matenda a Fragile X.
• Kusowa kwa glucose 6-phosphate dehydrogenase (G6PD) - Ichi ndi vuto la majini lomwe limakhudza maselo ofiira a magazi.
• `Cholowa cha matenda amisala`.
• Matenda a Huntington.
• Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Izi zimapangitsanso kuti uric acid ipangidwe kwambiri.
• 'Matenda a Rett'.
• "Tourette syndrome".

Kodi pali mitundu yosiyanasiyana ya matenda a Lesch-Nyhan (LHS)?

Mtundu wofala kwambiri wa matendawa, wotchedwa Classic Lesch-Nyhan syndrome (LNS), ndi woopsa kwambiri . Umayambitsa mavuto akuthupi, amisala, komanso a khalidwe. Komabe, pali mitundu ina yocheperako ya matendawa. Ana omwe ali ndi mitundu iyi amakhala ndi zizindikiro zochepa. Komanso sadzivulaza okha komanso amakhala ndi vuto la kuyenda.

Mitundu yofewa yotereyi ndi:

• `Ntchito ya mitsempha yokhudzana ndi HPRT1 (HND)`.
• `HPRT1-related hyperuricemia (Kelley–Seegmiller syndrome)` (HPRT1-related hyperuricemia - Kelley–Seegmiller syndrome) - Iyi ndi mtundu wofatsa kwambiri.

Kodi pali mayina ena ati a matenda a Lesch-Nyhan (LHS)?

Matendawa amadziwikanso ndi mayina ena angapo. Mayina ake ndi awa:

• `Choreoathetosis self-cutilation syndrome`
• `Kusowa kwathunthu kwa hypoxanthine-guanine phosphoribosyltransferase`
• `Gout wa achinyamata`
• Matenda a 'Juvenile hyperuricemia syndrome'
• Matenda a Kelley-Seegmiller
• `Matenda a Lesch Nyhan (LND)`
• Matenda a 'primary hyperuricemia syndrome'
• `Kusowa konse kwa HPRT`
• `X-linked hyperuricemia`

Kodi matenda a Lesch-Nyhan Syndrome (LHS) ndi ofala bwanji?

Matenda a Lesch-Nyhan ndi matenda osowa kwambiri . Amakhudza pafupifupi munthu m'modzi pa anthu 380,000 . Amafalanso kwambiri mwa anyamata. Matendawa adadziwika koyamba mu 1964.

Kodi n’chiyani chimayambitsa matenda a Lesch-Nyhan (LHS)?

Chifukwa chachikulu cha izi ndiKusintha, kapena kusintha kwa majini, mu jini inayake yotchedwa `HPRT1 gene`. Jini iyi ya `HPRT1` imapanga enzyme yofunika kwambiri yotchedwa `HPRT`. Enzyme ndi mtundu wa puloteni yomwe imafulumizitsa zochita za mankhwala (kagayidwe kachakudya) m'thupi lathu ndikuthandiza thupi kugwira ntchito bwino.

Tangoganizirani zomwe zimachitika ngati enzyme iyi ya `HPRT` sigwira ntchito bwino. Mu matenda a Lesch-Nyhan, thupi silingagwiritse ntchito bwino mankhwala otchedwa `purines` . Ngati ma purines awa sagwiritsidwa ntchito bwino, amasanduka `uric acid`. Ichi ndi chitayiko m'magazi mwathu.

Kawirikawiri, `uric acid` yambiri imadutsa mu impso ndipo imatuluka mu mkodzo. Komabe, mu matenda a Lesch-Nyhan, `uric acid` (uric acid) imasonkhana m'thupi mopitirira muyeso (hyperuricemia) .

Uric acid wochulukawu umatuluka ngati miyala yaying'ono, kapena makhiristo a urate, pakhungu, m'manja, ndi m'mapazi. Makhiristo amenewa amatha kuwononga mafupa ndikuyambitsa matenda otchedwa gout.

Komanso, miyala ing'onoing'ono iyi imatha kupangika mu impso kapena chikhodzodzo, zomwe zimatseka kutuluka kwa mkodzo ndikupangitsa kupweteka. Nthawi zina, impso zonse ziwiri zimatha kusiya kugwira ntchito (kulephera kwa impso).

Kodi zizindikiro za Lesch-Nyhan Syndrome (LHS) ndi ziti?

Zizindikiro mwa ana omwe ali ndi matenda a Lesch-Nyhan zimakhudza luso lawo la maganizo, mayendedwe awo, ndi khalidwe lawo . Kufooka pakuwongolera minofu ndi kuchedwa kukula ndi zina mwa zizindikiro zoyambirira za matendawa.

Ana ena akhoza kukhala ndi ma crystals a lalanje m'matewera awo ngati ali ndi uric acid wochuluka m'thupi lawo. Komabe, ana ambiri omwe ali ndi vutoli sasonyeza zizindikiro zilizonse mpaka atakwanitsa miyezi inayi.

Pali zizindikiro zambiri zomwe makolo ndi madokotala amatha kuziona. Tiyeni tiziyang'ane chimodzi ndi chimodzi:

Kudzivulaza wekha komanso ena

Kudzivulaza mokakamiza ndi chizindikiro cha matenda a Lesch-Nyhan, omwe amapezeka mwana akayamba kutulutsa mano. Khalidweli nthawi zambiri limaphatikizapo:

• Kugunda mutu kapena miyendo kwinakwake.
• Kuluma milomo, zala, ndi masaya.
• Kuluma m'maso.

Nthawi zina, ana omwe ali ndi vutoli amayesa kuvulaza ena. Anganyoze, kugwira, kumenya, kuluma, kapena kulavulira ena . Ziyenera kuti zimakhala zomvetsa chisoni komanso zopanda thandizo kwa mayi kapena bambo kuona izi, eti?

Mavuto a minofu ndi kuyenda

Zizindikiro zina zodziwika bwino ndi mavuto okhudzana ndi kulamulira minofu. Izi zikuphatikizapo:

• Ballismus ndi kayendedwe kobwerezabwereza ka manja kapena mapazi mwanjira yomweyo.
• Kuvutika kukwawa, kuyenda, kapena kudya ndi manja anu.
• Kuvuta kumeza (dysphagia).
• Hyperreflexia.
• Kuwerama kwa msana chifukwa cha kupindika kwa minofu `(opisthotonos)`.
• Kusuntha kosafunikira (dystonia) kapena kusintha kwa mawonekedwe a nkhope.
• Kusuntha kosafunikira, kupotoza, ndi kupotoza (choreoathetosis).
• Kusuntha mwadzidzidzi (chorea).
• Kusayenda bwino chifukwa cha kuuma kwa minofu kapena kuuma kwake (spasticity).
• Kusalankhula bwino kapena kulankhula pang'onopang'ono (dysarthria).

Mavuto azaumoyo

Ana omwe ali ndi matenda a Lesch-Nyhan amatha kukhala ndi mavuto ena azaumoyo chifukwa cha kuchuluka kwa `uric acid` m'thupi. Izi zikuphatikizapo:

• Miyala ya chikhodzodzo.
• Kulephera kwa impso.
• Miyala ya impso.
• Matenda a m'mimba.
• Kuchepa kwa magazi m'thupi chifukwa cha kusowa kwa vitamini B12.
• Kusanza pafupipafupi.

Mavuto ophunzirira

Ana angakhalenso ndi mavuto monga:

• Zovuta pakuphunzira.
• Mavuto amisala monga kuiwala kapena kuchepa kwa chidwi.
• Kukonza zinthu zovuta.

Kodi matenda a Lesch-Nyhan Syndrome (LHS) amawapeza bwanji?

Mungazindikire zizindikiro mwa mwana wanu. Kapena, dokotala angazindikire khalidwe losazolowereka panthawi yoyezetsa nthawi zonse. Ogwira ntchito zachipatala amazindikira matenda a Lesch-Nyhan powayeza thupi .

Adzafunsanso za zizindikiro za mwana wanu komanso mbiri ya matenda a m'banja. Adzafufuzanso zizindikiro monga:

• Kuchedwa kwa chitukuko.
• Kuyezetsa magazi kapena mkodzo kudzatsimikizira ngati mulingo wa uric acid m'magazi anu wakwera.
• Makhalidwe odzivulaza.

Ndi mayeso ena ati omwe amathandiza kupeza matenda?

Dokotala wanu angakulangizeni kuti muyese magazi ndi kuyezetsa majini kuti mutsimikizire kuti muli ndi matendawo komanso kuti mupewe matenda ena. Kuyezetsa majini kumaphatikizapo kutenga chitsanzo cha magazi pang'ono. Pambuyo pa kuyezetsa majini, mlangizi wa majini adzakambirana nanu za zotsatira zake.

Ngati wina m'banja mwanu ali ndi matenda a Lesch-Nyhan, ndipo muli ndi pakati, lankhulani ndi dokotala wanu za vutoli. Dokotala wanu angakulangizeni kuti muyezedwe mwana wakhanda, makamaka ngati mukudziwa kuti mwana wanu ndi wamwamuna. Kuyezetsa mwana wakhanda kungaphatikizepo:

• Amniocentesis.
• Kuyesa kwa magazi a chorionic villus.

Kodi pali mankhwala a Lesch-Nyhan Syndrome (LHS)?

Mwatsoka, palibe mankhwala a matenda a Lesch-Nyhan, ndipo njira zochiritsira ndizochepa. Komabe, opereka chithandizo chamankhwala angakuthandizeni inu ndi mwana wanu kuthana ndi zizindikiro ndikukhala ndi moyo wabwino.

Ndani adzakhala m'gulu la chithandizo cha mwana wanga la Lesch-Nyhan Syndrome (LHS)?

Ngati mwana wanu ali ndi matenda a Lesch-Nyhan, gulu la akatswiri osiyanasiyana ndi ogwira ntchito zachipatala nthawi zambiri limafotokoza zizindikiro zonse. Gululi likhoza kuphatikizapo:

• Katswiri wa majini.
• Katswiri wa impso (nephrologist).
• Katswiri wa matenda a mitsempha.
• Katswiri wa zamaganizo.
• Dokotala wa ana.
• Katswiri wa zamaganizo.
• Wantchito wothandiza anthu.
• Katswiri wa matenda a chilankhulo.
• Dokotala wodziwa bwino ntchito ya mkodzo (urologist).

Kodi matenda a Lesch-Nyhan Syndrome (LHS) amachiritsidwa bwanji?

Chithandizo cha matenda a Lesch-Nyhan chimadalira zizindikiro za mwana wanu komanso kuopsa kwake.

Makanda obadwa kumene ndi ana aang'ono angafunike kuyang'aniridwa ndi kuthandizidwa kwambiri podyetsa ana .

Wopereka chithandizo chamankhwala wanu angakulangizeni zinthu monga:

• Mankhwala oletsa kuchuluka kwa uric acid m'thupi kapena kuchepetsa mavuto a khalidwe.
• Thandizo pa kumeza kapena kudyetsa.
• Zipangizo zothandizira, monga mpando wa olumala, kuti zithandize kuyenda mosavuta.
• Kuchiza thupi ndi chithandizo cha ntchito.
• Zipangizo zodzitetezera monga chotchingira pakamwa kapena chotetezera pakamwa kuti zisachite zinthu modzidzimutsa monga kuluma zala.
• Njira monga shockwave lithotripsy kapena laser lithotripsy kuti muswe miyala ya impso kapena chikhodzodzo.

Kodi ndingachepetse chiopsezo cha mwana wanga chotenga matenda a Lesch-Nyhan Syndrome (LHS)?

Ndipotu, palibe njira yopewera matenda a Lesch-Nyhan. Amayambitsidwa ndi kusintha kwa majini (masinthidwe) komwe kumachitika mwana akamakula m'mimba. Palibe chomwe mungachite chomwe chingayambitse matendawa. Kumbukirani zimenezo. Nthawi zina, kuyezetsa mimba kungachitike kuti mudziwe kusintha kwa majini.

Kodi chiyembekezo cha mwana amene ali ndi matenda a Lesch-Nyhan (LHS) ndi chotani?

Chiyembekezo cha ana omwe ali ndi matenda a Lesch-Nyhan nthawi zambiri chimakhala choipa . Nthawi zambiri satha kuyenda ndipo amafunika mpando wa olumala. Ambiri amakhala ndi moyo wautali . Chifukwa cha zovuta za matendawa, nthawi zambiri anthu amakhala ndi moyo wopitilira zaka 20. Komabe, gulu la chithandizo lingakuthandizeni inu ndi mwana wanu kuthana ndi zizindikiro ndikuthandiza mwana wanu kukhala womasuka komanso wochita zinthu mwachangu momwe mungathere.

Kodi ndi liti pamene ndiyenera kufunsa uphungu kwa dokotala wa mwana wanga?

Ndikofunikira kuzindikira msanga matenda a Lesch-Nyhan . Opereka chithandizo chamankhwala angakupatseni inu ndi mwana wanu chithandizo chokhazikika komanso mpumulo wa zizindikiro. Dokotala wanu adzagwira nanu ntchito kuti akonze dongosolo la chithandizo lomwe likugwirizana ndi zosowa za mwana wanu zomwe zikusintha.Amapanga dongosolo losamalira wodwala payekha.

Makolo ambiri amamva kudabwa kwambiri komanso kusowa chochita akapezeka ndi matenda a Lesch-Nyhan. N'zomveka kuti uwu ndi matenda osowa kwambiri omwe amapezeka m'majini omwe alibe mankhwala. Komabe, kuwazindikira msanga ndi chithandizo kungathandize kwambiri moyo wa mwana. Lankhulani ndi dokotala wanu za mankhwala othandiza omwe angathandize mwana wanu akamakula.

Pomaliza, uthenga wopita nawo kunyumba

Chabwino, kuchokera pa zomwe takambiranazi, ndikukhulupirira kuti mwapeza chidziwitso cha Lesch-Nyhan Syndrome. Ichi ndi vuto losowa kwambiri, komanso lovuta kwambiri kwa mwana ndi banja.

• Uwu ndi matenda a majini: nthawi zambiri amapatsirana kuchokera kwa mayi kupita kwa mwana wamwamuna, kapena angayambitsidwe ndi kusintha kwa majini kwatsopano.
• Chizindikiro chachikulu ndi kudzivulaza: chimayambitsanso mavuto a minofu, matenda monga gout, ndi mavuto ophunzirira.
• Palibe mankhwala, koma zizindikiro zake zitha kuthetsedwa: ndi chithandizo chosiyanasiyana komanso chithandizo cha gulu la madokotala apadera, tingayesere kupangitsa moyo wa mwana kukhala wabwino momwe tingathere.
• Kuzindikira msanga n'kofunika kwambiri: Ngati muwona zizindikiro, funsani upangiri wa dokotala nthawi yomweyo.
• Simuli nokha: Zingakhale zovuta kukhalabe olimba m'maganizo mumkhalidwe wotere. Komabe, funani thandizo kwa madokotala, alangizi, ndi okondedwa anu.

Ndikukhulupirira kuti izi zikuthandizani. Ngati mwana wanu ali ndi zizindikiro izi, chonde pitani kwa dokotala woyenerera mwamsanga.

Lesch -Nyhan Syndrome, LNS, jini la HPRT1, uric acid, gout, kudzivulaza, matenda a majini, ana, matenda a majini, uric acid