Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za matenda a Wiskott-Aldrich.

Kodi mwana wanu amadwala nthawi zonse? Kodi nthawi zina amakhala ndi mavuto a pakhungu monga eczema, kodi amatuluka magazi ambiri ngakhale chifukwa cha bala laling'ono, kapena nthawi zonse amavulala kulikonse? Ngakhale izi zingawoneke ngati zachilendo, nthawi zina pangakhale vuto la majini lomwe silinamvepo zambiri. Limodzi mwa matenda amenewa ndi Wiskott-Aldrich Syndrome. Tiyeni tikambirane za izi mwatsatanetsatane lero.

Kodi matenda a Wiskott-Aldrich ndi chiyani?

Mwachidule, iyi ndi matenda osowa kwambiri a majini . Amakhudza kwambiri chitetezo cha mthupi cha mwana wanu komanso ntchito ya maselo ena m'magazi. Izi zingayambitse zizindikiro zingapo nthawi imodzi. Izi zikuphatikizapo:

• Eczema: Matenda a pakhungu omwe amayambitsa kuyabwa komanso kouma pakhungu.
• Kusowa kwa chitetezo chamthupi: Maselo oyera a m'magazi omwe amalimbana ndi matenda m'thupi sagwira ntchito bwino.
• Kutuluka magazi ndi kuvulala: Ngakhale kukhudza pang'ono kungayambitse kutuluka magazi, ndipo kuvulala kumatha kuchitika m'malo ena chifukwa cha vuto la magazi kuundana.

Vutoli nthawi zina lingayambitse mavuto omwe angakuphe. Lingafupikitsenso moyo wanu. Komabe, ndi mankhwala omwe alipo, zoopsazi zitha kuchepetsedwa kwambiri .

Kodi vutoli ndi lofala bwanji?

Izi zimachitika kawirikawiri kwambiri . Malinga ndi ziwerengero, akuti anyamata atatu okha pa anyamata miliyoni aliwonse ndi omwe amakhudzidwa ndi matenda a Wiskott-Aldrich. Ngakhale m'dziko ngati America, muli anthu osakwana 5,000 omwe ali ndi vutoli. Limakhudza kwambiri anyamata , ndipo ndi losowa kwambiri kuti atsikana adwale matendawa.

Kodi matenda okhudzana ndi WAS ndi chiyani?

Dokotala wanu angatchulenso Wiskott-Aldrich Syndrome ngati matenda okhudzana ndi WAS. Izi zikutanthauza matenda omwe amakhudza chitetezo cha mthupi chifukwa cha kusintha kwa majini a WAS. Mwachitsanzo, X-linked thrombocytopenia ndi matenda okhudzana ndi WAS.

Komabe, vuto lotchedwa ``congenital neutropenia'' limayamba chifukwa cha kusintha kwa majini, komwe sikukhudzana ndi jini ya ``WAS''. Madokotala amazindikira vutoli pokhapokha mwanayo atayamba matenda oopsa a bakiteriya.

Kodi zizindikiro za matenda a Wiskott-Aldrich ndi ziti?

Tanena kale kuti pali zizindikiro zitatu zazikulu za vutoli. Tiyeni tiwone mwatsatanetsatane .

• Eczema: Izi zimapangitsa kuti khungu likhale louma kwambiri komanso loyabwa., nthawi zina zimatha kufiira ndi kuphulika. Zili ngati eczema yomwe ana ena amadwala, koma izi zimatha kukhala zoopsa kwambiri.

• Kusowa kwa chitetezo chamthupi: Matendawa amapezeka pamene maselo oyera a m'magazi omwe amathandiza kuti matupi athu akhale athanzi sagwira ntchito bwino. Izi zimachepetsa mphamvu ya thupi yolimbana ndi matenda . Nthawi zina chitetezo chamthupi chimatha kuyamba kuukira thupi lake. Izi zingayambitse matenda opatsirana pafupipafupi, komanso matenda monga nyamakazi, vasculitis (kutupa kwa mitsempha yamagazi), kuchepa kwa magazi (kuchepa kwa magazi), leukemia (mtundu wa khansa ya m'magazi), kapena lymphoma (mtundu wa khansa ya m'maselo a lymph).

• Mavuto otuluka magazi (Microthrombocytopenia): Apa ndi pamene chiwerengero cha ma platelet, chomwe chimathandiza magazi kuundana, chimachepa kapena chimakhala chochepa kwambiri . Ndipotu, awa ndi maselo omwe amathandiza kuletsa kutuluka magazi. Choncho akachepa, ngakhale kudula pang'ono kungayambitse kutuluka magazi kosatha. Izi zingayambitse mabala , kutuluka magazi m'mphuno, nthawi zina kutsegula m'mimba, kutuluka magazi pansi pa khungu (purpura), ndi madontho ang'onoang'ono ofiira (petechiae) pakhungu.

Musachite mantha ndi matendawa chifukwa chakuti muli ndi chimodzi kapena ziwiri mwa zizindikirozi. Koma ngati zinthuzi zikupitirira, ndi bwino kupita kwa dokotala.

Makanda omwe ali ndi vuto lalikulu la matenda a Wiskott-Aldrich (kulephera kugwira ntchito bwino kwa thupi) angasonyezenso zizindikiro monga:

• Chikanga
• Kusowa kwa chitetezo chamthupi
• Matenda a thrush aakulu
• Chibayo

Nthawi zina, pakakhala matenda a neutropenia obadwa nawo omwe amayamba chifukwa cha jini ya WAS yomwe imagwira ntchito bwino, matenda oopsa a bakiteriya kapena myelodysplastic syndrome (matenda a m'mafupa) amatha kuchitika.

Kodi chifukwa chake ndi chiyani?

Chifukwa chachikulu cha Wiskott-Aldrich Syndrome ndi kusintha kwa majini, kapena kusintha kwa majini, mu jini ya WAS . Jini iyi ya WAS ili pa mkono waufupi wa chromosome yathu ya X. Jini iyi imapanga puloteni ya Wiskott-Aldrich syndrome. Puloteni iyi imapezeka m'maselo athu onse a m'magazi.

Puloteni iyi ya matenda a Wiskott-Aldrich imathandiza maselo athu kumamatira ku maselo ena ndi minofu kudzera mu "kumatirira." Kumatirira kumeneku n'kofunika kwambiri chifukwa kumathandiza chitetezo chathu cha mthupi kugonjetsa adani monga mabakiteriya ndi mavairasi omwe amalowa m'thupi.

Choncho, ngati muli ndi kusintha kwa majini mu jini yanu ya `WAS`, maselo anu amagazi sadzatha kumamatira ku maselo ndi minofu ina bwino. Izi zidzalepheretsa chitetezo cha mthupi kugwira ntchito yake bwino. Ndicho chimayambitsa zizindikiro za matenda a Wiskott-Aldrich.

Mu neutropenia yobadwa nayo, kusintha kwa majini kumaletsa kuyenda kwa mitundu iwiri ya maselo, ma neutrophils ndi ma monocytes, zomwe zimalepheretsa chitetezo cha mthupi kutulutsa maselowa kuti amenyane ndi matenda.

Kodi izi ndi zinthu zomwe zimachokera ku mibadwomibadwo?

Inde, ichi ndi vuto lomwe lingatengedwe kukhala lachibadwa. Limatengadwe kukhala lachibadwa mu "X-linked recessive". Izi zikutanthauza kuti mwanayo ayenera kulandira kusintha kwa majini kuchokera kwa makolo onse awiri.

Timalandira ma chromosome athu ogonana kuchokera kwa makolo athu. Amuna ali ndi chromosome imodzi ya 'X' ndi chromosome imodzi ya 'Y'. Akazi ali ndi ma chromosome awiri a 'X'. Matendawa amakhudza kwambiri anyamata, chifukwa kusintha kwa majini kumeneku kumakhudza ntchito ya chromosome yawo yokha ya 'X'.

Ngakhale matendawa ali ndi kalembedwe ka m'banja, odwala oposa 30% amadwala ``de novo'' , zomwe zikutanthauza kuti amayamba chifukwa cha kusintha kwa majini komwe kumachitika panthawi yoyembekezera.

Kodi mumazindikira bwanji izi?

Dokotala nthawi zambiri amazindikira matenda a Wiskott-Aldrich ali mwana kapena ali mwana . Mwanayo amafufuzidwa ndipo mayeso ofunikira amachitidwa. Zizindikiro zoyamba za vutoli zitha kukhala magazi m'chimbudzi, kutuluka magazi kosazolowereka, kapena kuvulala. Dokotala angachite mayeso otsatirawa kuti atsimikizire vutoli:

• Kuchuluka kwa magazi (CBC)
• Kuyesa magazi m'majini
• Kupaka magazi m'mbali mwa thupi

Ngati izi sizikudziwika ali mwana, zizindikiro zake zimaonekera kwambiri ali mwana.

Ngati mwana wanu akuwonetsa zizindikiro za kufooka kwa chitetezo chamthupi, monga matenda opatsirana pafupipafupi, mayeso ena angafunike ali mwana. Izi zili choncho chifukwa thupi la mwanayo silingathe kulimbana ndi mabakiteriya ndi mavairasi moyenera, ndipo silingayankhe bwino katemera wina.

Dokotala angachite mayeso a magazi kuti aone ngati thupi la mwana wanu likupanga ma antibodies pambuyo pa katemera. Ma antibodies amenewa ndi omwe amapanga chitetezo cha mthupi kuti chiteteze ku matenda akuluakulu. Kuphatikiza apo, mayeso ena a magazi adzachitika kuti aone maselo oyera a mwana wanu, makamaka ma T-cell ndi ma immunoglobulins (omwe amathandizanso kupanga ma antibodies).

Kodi mankhwala ochizira izi ndi otani?

Matenda a Wiskott-Aldrich Syndrome amatha kuchiritsidwa m'njira zotsatirazi:

• Chiritsani matendaMankhwala opha tizilombo toyambitsa matenda kapena maantibayotiki.
• Mankhwala oletsa ma antibodies (immunoglobulin) amaperekedwa kuti abwezeretse ma antibodies omwe atha.
• Kuika magazi m'magazi pogwiritsa ntchito mapiritsi oteteza magazi kuti athetse mavuto obwera chifukwa cha kutuluka magazi.
• Eczema imatha kuchiritsidwa ndi mankhwala opaka pakhungu komanso mafuta odzola omwe amagulitsidwa kunja kwa chipatala (OTC) .

Ngati mwana wanu adwala matenda kapena matenda enaake, akhoza kukhala oopsa komanso oopsa . Kuti muteteze moyo wa mwana wanu, mungayesenso njira izi:

• Kusamutsa maselo oyambira : Iyi ikhoza kukhala njira yabwino kwambiri yomwe ilipo pakadali pano.
• Chithandizo cha majini (izi zikadali mu gawo lofufuza).

Dokotala wa mwana wanu adzakambirana nanu njira zochiritsira izi ndikukonzekera chithandizo kuti akwaniritse zotsatira zabwino kwambiri kwa mwana wanu ndikukweza moyo wake.

Ngati mwana wanga ali ndi vutoli, ndiyenera kuyembekezera chiyani?

Ngati mwana wanu ali ndi matenda a Wiskott-Aldrich Syndrome, dokotala wanu adzakonza njira yothandizira kupewa mavuto omwe angachitike chifukwa chitetezo cha mthupi chake sichikugwira ntchito bwino. Mukapeza matendawa, mutha kutumizidwa kukalandira upangiri wa majini . Izi zingakuthandizeni inu ndi banja lanu kudziwa zambiri za matendawa komanso njira zina zochiritsira zomwe zilipo.

Ngakhale matenda ofala kwambiri a ana monga nkhuku angayambitse mavuto aakulu pa thanzi la mwana wanu. Popeza chitetezo chake cha mthupi sichili champhamvu ngati ana ena a msinkhu wake, angafunike kuonana ndi dokotala nthawi yomweyo. Kuchiza matenda ndi matenda msanga kungakuthandizeni kupeza zotsatira zabwino.

Dokotala wanu angakuuzeni kuti musapatse mwana wanu katemera wa kachilombo kamoyo (monga jakisoni wa chimfine) chifukwa kachilombo kamoyo kangamudwalitse mwana wanu. Ngakhale mwana wanu atalandira katemera wina, sangagwire ntchito bwino. Ngati mwana wanu adwala ndi kachilomboka, chithandizo choyambirira ndi mankhwala oletsa mavairasi nthawi zambiri chimagwira ntchito bwino. Koma ngakhale matenda wamba angayambitse mavuto.

Mwana wanu angafunike kuyezetsa khansa nthawi zonse pa moyo wake wonse chifukwa ali pachiwopsezo chachikulu chotenga mitundu ina ya khansa, makamaka khansa ya m'magazi kapena lymphoma .

Kodi pali mankhwala athunthu a izi?

Inde, kuyika maselo oyambira (komwe kumatchedwanso kuyika mafupa) kungachiritse matenda a Wiskott-Aldrich.Mitundu iyi ya ma transplants imachotsa maselo oyambira omwe amapanga magazi m'thupi ndikuyika maselo oyambira athanzi. Chifukwa chakuti Wiskott-Aldrich Syndrome imayambitsa maselo olakwika amagazi, transplantation ya maselo oyambira imatha kusintha maselo amenewo ndi maselo athanzi komanso ogwira ntchito.

Kodi matenda a Wiskott-Aldrich ndi oopsa?

Matenda a Wiskott-Aldrich Syndrome amatha kupha . Zanenedwa kale kuti ana osapatsidwa stem cell amakhala ndi moyo wa zaka pafupifupi 15. Zizindikiro zomwe zimayambitsidwa ndi matenda opatsirana, kutuluka magazi muubongo wa mwana, matenda oopsa kapena khansa zimatha kupha, ndipo imfa imatha kuchitika mwachangu.

Komabe, ndi kupita patsogolo kwa sayansi ya zamankhwala, njira zamakono zothandizira zathandiza kuti mwana akhale ndi moyo wautali.

Kodi izi zingapewedwe?

Uwu ndi matenda a majini ndipo sungapewedwe . Ngati mukukonzekera kukhala ndi ana ndipo mukufuna kudziwa chiopsezo chanu chokhala ndi mwana wokhala ndi matenda a majini, lankhulani ndi dokotala wanu za kuyezetsa majini .

Ndiyenera kupita kwa dokotala wa mwana wanga nthawi yanji?

Ngati mwana wanu akudwala ndipo wapezeka ndi matenda a Wiskott-Aldrich Syndrome, funsani dokotala nthawi yomweyo . Popeza chitetezo cha mthupi chawo sichikugwira ntchito bwino, akhoza kutenga matenda nthawi zambiri. Dokotala wanu akhoza kuchiza matendawo kapena matendawo, kapena kupewa mavuto omwe angawononge moyo.

Onani dokotala wanu ngati mwana wanu ali ndi chimodzi mwa zotsatirazi:

• Magazi m'chimbudzi (Kutsegula m'mimba kwa magazi)
• Kutuluka magazi m'mphuno pafupipafupi
• Malo akuluakulu a kuvulala
• Kusintha kwa khungu lawo
• Matenda obwerezabwereza (monga nthenda ya nkhuku kapena thrush, matenda a bakiteriya)

Ndi mafunso ati omwe ndiyenera kufunsa dokotala?

Mungathe kufunsa dokotala mafunso monga awa:

• Kodi mwana wanga adzakhala ndi moyo wautali bwanji?
• Ndi zinthu ziti zomwe ndingagwiritse ntchito pochiza eczema ya mwana wanga?
• Kodi pali zotsatirapo zilizonse pa mankhwala omwe mumalimbikitsa?
• Kodi mwana wanga ndi woyenera kuikidwa maselo oyambira?

Kodi kusiyana pakati pa Wiskott-Aldrich Syndrome ndi Ataxia-Telangiectasia ndi kotani?

Matenda a Wiskott-Aldrich ndi Ataxia-Telangiectasia ndi matenda a majini omwe amakhudza momwe chitetezo cha mthupi chimagwirira ntchito.Komabe, ataxia-telangiectasia imayamba chifukwa cha kusintha kwa majini a ATM. Zimakhudza kayendedwe kanu ndi mgwirizano wanu. Zimachititsanso kuti mitsempha yamagazi iwoneke ngati yozungulira pakhungu lanu.

Zinthu zofunika kwambiri zomwe muyenera kukumbukira

Kupeza kuti mwana wanu ali ndi matenda osowa kwambiri omwe angamukhudze moyo wake wonse kungakhale kovuta kwambiri. Zingakhale zodabwitsa. Koma musadandaule. Dokotala wa mwana wanu adzakuuzani zambiri za matendawa komanso momwe mungathandizire mwana wanu kunyumba. Chitetezo cha mthupi cha mwana wanu sichingagwire ntchito bwino, kotero amatha kudwala pafupipafupi.

Ndikofunikira kudzisamalira nokha pamene mukusamalira mwana wanu. Makolo ambiri ndi mabanja amapeza chitonthozo chachikulu ndi chithandizo akamalankhula ndi mlangizi wa zaumoyo wamaganizo .

Chifukwa cha kupita patsogolo kwa njira zochiritsira zomwe zilipo panopa, ana omwe ali ndi vutoli tsopano akutha kukhala ndi moyo wathunthu komanso wosangalala. Choncho khalani olimba mtima.

Matenda a Wiskott -Aldrich, matenda a majini, chitetezo chamthupi, eczema, kutuluka magazi, kusamutsa maselo oyambira, thanzi la mwana