Kodi mwana wanu ali ndi zizindikiro izi? Zingakhale Hunter Syndrome!

Kodi mwaona kuchedwa kulikonse pakukula kwa mwana wanu, kapena kusintha kulikonse pa mawonekedwe ake kapena mafupa posachedwapa? Nthawi zina, chomwe chimayambitsa zinthuzi chingakhale vuto losowa lomwe sitinamvepo zambiri. Lero tikambirana za matenda a majini otchedwa Hunter Syndrome. Musachite mantha mukamva izi, chifukwa chofunika kwambiri ndikudziwa za izi.

Kodi Hunter Syndrome ndi chiyani? Tiyeni timvetse mosavuta!

Mwachidule, Hunter Syndrome ndi matenda osowa kwambiri a majini. Uwu ndi mkhalidwe womwe mamolekyu ena ovuta a shuga m'thupi la mwana wanu (otchedwa ``Glycosaminoglycans'' kapena ``GAGs'') saphwanyidwa bwino ndikugayidwa. Monga momwe zinyalala m'nyumba zathu zimasonkhanira ngati sititaya bwino, mamolekyu a shuga amenewa amasonkhanira mkati mwa maselo a thupi, makamaka m'zigawo zotchedwa ``Lysosomes''. Pakapita nthawi, kusonkhanitsa kumeneku kumayamba kuwononga ziwalo ndi minofu yosiyanasiyana m'thupi. Kuwonongeka kumeneku kungakhudze kukula kwa thupi ndi maganizo a mwana.

Madokotala amagawa Hunter Syndrome m'magulu awiri akuluakulu:

1. Mtundu wovuta: Uwu ndi mtundu wovuta kwambiri womwe umakula mofulumira. Pankhaniyi, luso la mwana la nzeru limakhudzidwanso. Nthawi zambiri, pakati pa zaka 6 ndi 8, mwanayo amayamba kuvutika kuchita ntchito zoyambira za tsiku ndi tsiku. Pafupifupi 60% ya anthu omwe ali ndi matenda a Hunter Syndrome ali ndi mtundu wovutawu.

2. Mtundu wofatsa: Zizindikiro zimabwera pang'onopang'ono. Luso la nzeru silingakhudzidwe kwambiri.

Matenda a Hunter Syndrome ndi a gulu lalikulu la matenda otchedwa ``Mucopolysaccharidoses``. Chifukwa chake, amatchedwanso ``Mucopolysaccharidosis type II`` kapena ``MPS II``.

Kodi Hunter Syndrome ndi yofala bwanji?

Vutoli ndi losowa kwambiri. Komanso, limakhudza kwambiri anyamata. Malinga ndi ziwerengero, pafupifupi mnyamata m'modzi yekha mwa anyamata 100,000 mpaka 170,000 ndi amene amakhudzidwa ndi matendawa. Komabe, atsikana akhoza kukhala ndi matenda a majini omwe amayambitsa matendawa. Izi zikutanthauza kuti ngakhale atakhala kuti alibe zizindikiro, akhoza kupatsira ana awo jiniyo.

Kodi zizindikiro za mwana yemwe ali ndi matenda a Hunter Syndrome ndi ziti?

Zizindikiro zimenezi nthawi zambiri zimayamba kuonekera mwa mwana wazaka zapakati pa 2 ndi 4. Zizindikiro zimatha kusiyana malinga ndi munthu, komanso zimatha kusiyana malinga ndi kukula kwake. Tiyeni tiwone zizindikiro zazikulu zomwe zingawonekere:

• Kuuma kwa mafupa, kuvutika kupindika: Zingamveke ngati mafupa "akumatirira".
• Kukhuthala kwa nkhope: Malo monga mphuno, milomo, ndi lilime amatha kukhala okhuthala ndipo amaoneka ngati ovuta pang'ono.
• Kutsegula mano mochedwa kapena kukhala ndi mipata yayikulu pakati pa mano.
• Mutu ndi waukulu kuposa wachibadwa, chifuwa ndi chachikulu, ndipo khosi ndi lalifupi.
• Kutaya kumva (kutayika kumva) komwe kumawonjezeka pang'onopang'ono pakapita nthawi.
• Kuchedwa kukula: Kutalika kumatha kuchepa, makamaka akakwanitsa zaka 5.
• Kukulirakulira kwa ndulu ndi chiwindi.
• Kuoneka kwa ziphuphu zoyera pakhungu.

Ndi bwino kusachita mantha ngati muwona chimodzi kapena ziwiri mwa zizindikirozi, koma ngati mwana wanu akupitiriza kukhala ndi zizindikiro zoposa chimodzi mwa izi, ndi bwino kufunafuna upangiri kwa dokotala.

N’chifukwa chiyani matenda a Hunter amachitika? Kodi chifukwa chake n’chiyani?

Chifukwa chachikulu cha izi ndi kusintha kwa majini mu jini ya `IDS`. Jini iyi ya `IDS` imalamulira kupanga enzyme yotchedwa `(Iduronate 2-sulfatase)` kapena `(I2S)` m'thupi lathu. Ntchito ya enzyme iyi ya `(I2S)` ndikuphwanya mamolekyu ovuta a shuga otchedwa `(Glycosaminoglycans)` kapena `(GAGs)` omwe tidakambirana kale.

Kotero, mwa munthu yemwe ali ndi matenda a Hunter syndrome `(MPS II)`, enzyme iyi ya `(I2S)` siipangidwa m'thupi, kapena imapangidwa pang'ono kwambiri. Chifukwa chakuti enzyme iyi palibe, mamolekyu a shuga a `(GAGs)` amasonkhana m'zigawo zotchedwa `(Lysosomes)` mkati mwa maselo. `(Lysosomes)` ndi malo mkati mwa maselo omwe amaswa ndikubwezeretsanso mamolekyu osafunikira. Chifukwa `(GAGs)` amasonkhana mwanjira iyi, matenda a `(MPS II)` ndi a gulu la matenda otchedwa `(Lysosomal storage disorder)`. Chifukwa cha kuchulukana kumeneku, ziwalo zosiyanasiyana ndi minofu ya thupi zimawonongeka.

Ndani ali pachiwopsezo chachikulu chotenga izi?

Ngati wina m'banjamo, kutanthauza kuti wina wokhudzana ndi chilengedwe, ali ndi matendawa, chiopsezo cha ena kudwala matendawa chimakhala chachikulu.

Monga tanenera kale, anyamata ndi omwe ali ndi mwayi waukulu wolandira matendawa. Izi zili choncho chifukwa matendawa amalumikizidwa ndi chromosome ya X. Mukudziwa, atsikana amalandira ma chromosome awiri a X, anyamata amalandira chromosome imodzi ya X ndi chromosome imodzi ya Y. Chifukwa chake, ngakhale mtsikana atalandira chromosome ya X ndi jini yolakwika iyi, chromosome ina yathanzi ya X ingapereke enzyme yofunikira. Chifukwa chake sangasonyeze zizindikiro ndikukhala wonyamula. Koma ngati mnyamata alandira chromosome ya X ndi jini yolakwika imeneyo, adzadwala matendawa chifukwa alibe chromosome ina ya X.

Kodi mavuto omwe angakhalepo chifukwa cha Hunter Syndrome ndi ati?

Kutengera ndi kuopsa kwa matendawa, mavuto osiyanasiyana amatha kuchitika. Madokotala amagwiritsa ntchito mankhwala ndipo nthawi zina opaleshoni kuti athetse mavutowa. Tiyeni tiwone mavutowa:

• Kuvuta kupuma: Kuvuta kupuma kungachitike chifukwa cha kukhuthala kwa minofu ndi kutsekeka kwa njira zopumira.
• Matenda a mtima (`(Matenda a mtima)`).
• Kusakhazikika kwa mafupa ndi mafupa.
• Kuchepa pang'onopang'ono kwa ntchito ya ubongo.
• Matenda a Carpal tunnel (`(Carpal tunnel syndrome)`): Matenda omwe amayamba chifukwa cha kupsinjika kwa mitsempha m'dera la dzanja.
• Hernias (`(Hernias)`).
• Matenda monga khunyu (`(Kugwidwa)`).
• Mavuto a khalidwe.

Mavuto amenewa samachitika mofanana kwa aliyense. Amatha kusiyana malinga ndi momwe mwana alili. Chifukwa chake, ndikofunikira kulankhula ndi dokotala nthawi zonse ndikuzindikira momwe mwanayo alili.

Kodi mungadziwe bwanji ngati muli ndi Hunter Syndrome?

Dokotala wa mwana wanu adzachita mayeso angapo kuti atsimikizire vutoli.

• Kuyesa mkodzo: Izi zimafufuza kuchuluka kwa shuga m'mkodzo (kotchedwa ma GAGs).
• Kuyezetsa magazi: Izi zitha kudziwa ngati ntchito ya enzyme `(I2S)` m'magazi ndi yotsika kapena palibe. Ichi ndi chizindikiro chachikulu cha matendawa.
• Kuyesa majini: Ichi ndi chomwe chimatsimikizira ngati pali kusintha kwa majini enieni a IDS.

Kodi mankhwala a Hunter Syndrome ndi ati?

Matenda a Hunter Syndrome amachiritsidwa malinga ndi zizindikiro za mwana. Izi zimafuna thandizo la gulu la akatswiri. Anthu odziwa bwino ntchito zosiyanasiyana amagwira ntchito limodzi kuti athetse vuto la mwana. Zolinga zazikulu za chithandizo ndikuchepetsa kukula kwa matendawa, kuzindikira ndikuchiza mavuto omwe angabwere chifukwa cha matendawa msanga, komanso kukonza moyo wa mwana.

Chithandizo chabwino kwambiri chomwe chilipo pano kuti tikwaniritse zolingazi ndi chithandizo cholowa m'malo mwa ma enzyme (`(Enzyme replacement therapy)`). Pankhaniyi, enzyme yomwe ikusowa ya `(I2S)` imalowedwa m'malo ndi enzyme yopangidwa ndi munthu (`(Idursulfase (Elaprase®))`). Chithandizochi nthawi zambiri chimaperekedwa kudzera m'mitsempha kamodzi pa sabata.

Kuphatikiza apo, kafukufuku wokhudza chithandizo cha majini (kapena kusintha majini) ukuchitika pakadali pano. Izi zitha kubweretsa chiyembekezo chachikulu kwa odwala omwe ali ndi Hunter Syndrome mtsogolo. Komabe, zotsatira zake zikuyembekezeredwabe.

Kodi pali njira yopewera izi?

Popeza vutoli ndi la majini, mwatsoka silingathe kupewedwa. Komabe, ndikofunikira kwambiri kuti makolo a mwana yemwe ali ndi matenda a Hunter Syndrome alankhule ndi mlangizi wa majini asanakhale ndi mwana wina. Katswiriyu angathandize makolo kumvetsetsa chiopsezo chopatsira matendawa kwa mwana wina.

Kodi tsogolo la munthu amene ali ndi matenda a Hunter Syndrome ndi lotani?

Mankhwala athunthu a izi sanapezekebe.Matenda oopsa a matendawa akhoza kukhala pachiwopsezo. Ana otere amakhala ndi moyo kuyambira zaka 10 mpaka 20. Komabe, anthu omwe ali ndi matenda ofatsa amatha kukhala ndi moyo wautali kwambiri, mpaka atakula.

Kwa anthu ambiri, njira zochiritsira monga mankhwala, physiotherapy, ndi opaleshoni zingathandize kuthana ndi mavuto a matendawa ndikukweza moyo wawo.

Kodi mwana wanga adzatha kugwira ntchito bwino?

Ana omwe ali ndi matenda a Hunter Syndrome angakhale ndi vuto ndi zochita za tsiku ndi tsiku komanso kuyenda chifukwa zizindikiro zawo zimakula pang'onopang'ono. Zochita zina zingafunike kusinthidwa. Dokotala wa mwana wanu adzakambirana nanu za zochita ndi mankhwala omwe angakuthandizeni kuthana ndi zizindikirozo.

Kodi muyenera kupita kwa dokotala nthawi yanji?

Ngati mwana wanu ayamba kusonyeza zizindikiro za Hunter Syndrome, kapena ngati muwona kuchedwa kwa chitukuko, funsani dokotala wa mwana wanu nthawi yomweyo. Kuyamba chithandizo msanga kungathandize kupewa kuwonongeka kosatha kwa ziwalo ndi minofu.

Kodi muyenera kufunsa dokotala chiyani?

Mukangodziwa kuti mwana wanu ali ndi Hunter Syndrome, mutha kufunsa dokotala mafunso monga awa:

• Kodi Hunter Syndrome ndi yoopsa bwanji?
• Kodi mwana wanga adzalandira chithandizo cha nthawi yochepa komanso yayitali bwanji?
• Kodi matendawa adzakhudza bwanji moyo wa mwana wanga?
• Kodi njira zochiritsira ndi ziti?

Funsani mafunso awa ndipo chotsani kukayikira kulikonse komwe mungakhale nako. Chifukwa mukakhala ndi chidziwitso chochuluka, mudzakhala okhoza bwino kuthandiza mwana wanu.

Kodi kusiyana pakati pa matenda a Hunter ndi Hurler ndi kotani?

Matenda a Hunter ndi Hurler ndi matenda awiri omwe ali m'gulu la matenda otchedwa ``Lysosomal storage disorders'', ``Mucopolysaccharidoses''.

Matenda a Hurler ndi mtundu woopsa kwambiri wa matendawa a Mucopolysaccharidosis type I (MPS I). Mu MPS I, enzyme ya alpha-L-iduronidase ikusowa. Matenda a Hurler ndi owopsa kwambiri kuposa matenda a Hunter.

Uthenga wopita nawo kunyumba

Ndikumvetsa momwe zimakhalira zovuta kudziwa kuti mwana wanu ali ndi matenda monga Hunter Syndrome. Zingakhale zopweteka kwambiri, makamaka mukamva za moyo wa mwana wanu. Panthawi yovutayi, kumbukirani kuti simuli nokha.

Chofunika kwambiri ndikugwira ntchito ndi madokotala a mwana wanu kuti mudziwe zambiri momwe mungathere zokhudza matendawa ndi chithandizo chake. Komanso, khalani ndi anthu othandiza, monga anzanu ndi abale anu. Thandizo lawo ndi chitonthozo chawo zidzakhala gwero lalikulu la mphamvu panthawiyi. Kumbukirani, pamavuto aliwonse, pali chiyembekezo.

Matenda a Hunter, Matenda a Hunter, MPS II, Matenda a Majini, Ma Enzymes, Matenda a Ana, Zizindikiro, Chithandizo