Kodi muli ndi mawanga kapena zotupa zachilendo pathupi lanu? Tiyeni tikambirane za Neurofibromatosis (NF)!

Kodi muli ndi madontho a mtundu wa khofi pakhungu lanu omwe mwina mwawaona kuyambira muli mwana? Kapena nthawi zina mumakhala ndi zinthu zazing'ono zokhala ndi ziphuphu zomwe zimawonekera m'malo enaake mthupi lanu? Mwina awa si madontho kapena ziphuphu zokha. Lero tikambirana za vuto lomwe lingakhale lotere, ndipo ndi lovuta pang'ono koma lomveka bwino. Imeneyo ndi Neurofibromatosis , kapena NF mwachidule.

Kodi Neurofibromatosis (NF) ndi chiyani?

Mwachidule, Neurofibromatosis (NF) ndi gulu la matenda omwe amakhudza dongosolo lathu la mitsempha ndi majini . Amakhudza ubongo wathu, msana, mitsempha, ndi khungu. Zizindikiro zomwe mumakumana nazo zimatha kusiyana malinga ndi munthu, ndipo zimasiyananso malinga ndi mtundu wa NF womwe muli nawo. Koma zizindikiro zodziwika kwambiri ndi zizindikiro zobadwa nazo ndi zotupa zomwe nthawi zambiri sizimakhala ndi khansa (zosaopsa). Muthanso kulandira matendawa kuchokera ku banja lanu, lomwe ndi majini anu. Koma modabwitsa, pafupifupi 50% ya milandu, imatha kuchitika mwangozi, popanda mbiri ya banja.

Kodi mitundu ikuluikulu ya matenda a Neurofibromatosis (NF) ndi iti?

Pali mitundu itatu ikuluikulu ya ma NF awa. Tiyeni tiwone zomwe zili.

1. Mtundu wa Neurofibromatosis 1 (NF1)

Uwu ndi mtundu wofala kwambiri wa NF. Umachitika pamene:

• Madontho a Cafe au Lait: Awa amaoneka ngati madontho a mtundu wa khofi. Amatha kuwoneka kulikonse pathupi.
• Neurofibromas: Zotupa zazing'ono zomwe zimapangika pa mitsempha.
• Madontho m'khwapa ndi m'mimba: Amaoneka ngati madontho ang'onoang'ono.
• Ziphuphu za mitsempha ya maso: Izi zimatha kupangika m'mitsempha yomwe imalumikizana ndi diso.
• Kufooka kwa mafupa: Mwachitsanzo, zinthu monga scoliosis.

Tangoganizani, pali mtsikana wamng'ono dzina lake Nimali. Pamene anabadwa, anali ndi madontho angapo a mkaka ngati khofi pathupi lake. Pamene ankakula pang'ono, madontho ang'onoang'ono nawonso ankaonekera m'khwapa mwake. Anangowaonetsa kwa dokotala ndipo anazindikira kuti ali ndi NF1.

2. Schwannomatosis yokhudzana ndi NF2 (yomwe kale inkatchedwa Neurofibromatosis type 2 (NF2))

Mtundu uwu umachitika:

• Ma neuroma omwe amakula pang'onopang'ono: Izi zimapangidwanso pamodzi ndi mitsempha.
• Kulephera kumva: Kutaya kumva kungachitike.
• Kusintha kwa masomphenya: Zinthu monga ma cataract zimatha kuchitika.
• Kusanza kapena kufooka: Mungamve ngati miyendo yanu yachita dzanzi (peripheral neuropathy).

3. Schwannomatosis (SWN)

Uwu ndi mtundu wosowa kwambiri . Pali mitundu ingapo ya izi, kutengera kusintha kwa majini. Nthawi zina sipangakhale zizindikiro konse. Koma ngati zizindikiro ziwonekera, nazi zina zomwe zingachitike:

• Matenda a mitsempha omwe amakula pang'onopang'ono (Schwannomas):Izi zitha kuchitika pa gawo limodzi lokha la thupi.
• Kupweteka kosatha.
• Kusanza ndi kutupa m'manja.

Kodi matenda a Neurofibromatosis (NF) ndi ofala bwanji?

Ponena za izi, NF1 imapanga pafupifupi 96% ya milandu yonse ya NF. Izi zikutanthauza kuti pafupifupi mwana m'modzi mwa ana 3,000 omwe amabadwa chaka chilichonse padziko lonse lapansi ali ndi matendawa. NF2 imapanga pafupifupi 3%, kutanthauza kuti, mwana m'modzi mwa ana 33,000 omwe amabadwa. Schwannomatosis (SWN) si yofala kwambiri, imapezeka pafupifupi 1%.

Kodi zizindikiro za Neurofibromatosis (NF) ndi ziti?

Monga tanenera kale, zizindikiro zimasiyana malinga ndi mtundu wa NF. Anthu ena sangakhale ndi zizindikiro konse, pomwe ena akhoza kukhala ndi zizindikiro zoopsa. Komabe, pali zizindikiro ziwiri zazikulu zomwe zimafanana ndi mitundu yonse itatu:

• Ziphuphu: Izi ndi ziphuphu za minofu zomwe zimapangidwa maselo akamakumana. Mitundu yosiyanasiyana ya zotupa za NF imapangidwa ndi mitundu yosiyanasiyana ya maselo. Zotupa izi nthawi zambiri zimakula pang'onopang'ono ndipo sizimayambitsa khansa (zoipa) . Komabe, nthawi zambiri, zotupa zina zimatha kukhala khansa. Zotupa izi zomwe zimapangidwa pamitsempha zimatchedwa Neurofibromas .

• Zomera pakhungu: Izi zikuphatikizapo zizindikiro zoberekera, monga madontho a cafe au lait omwe takambirana kale, komanso madontho omwe amamera m'khwapa ndi m'mimba. Nthawi zina, ziphuphu zazing'ono, zofewa, zonga nandolo (cutaneous neurofibromas) zimathanso kukula pamwamba pa khungu.

Chofunika kwambiri ndichakuti musachite mantha kuti muli ndi matenda a NF chifukwa choti muli ndi malo angapo ngati awa. Komabe, ngati muli ndi kukayikira kulikonse, ndi bwino kufunsa upangiri wa dokotala.

Kuwonjezera pa zizindikiro zazikulu izi, zizindikiro zina zingawonekere:

• Kutaya kumva kapena kuona.
• Scoliosis.
• Kufooka kwa minofu.
• Kusanza kapena kumva kuwawa m'miyendo.
• Kupweteka kwa thupi ndi mutu.
• Kusintha kwa khalidwe, monga Matenda a Kusazindikira/Kusokonezeka Maganizo (ADHD).
• Mavuto ophunzirira.
• Matenda monga khunyu.

Kodi munthu amene ali ndi matenda a Neurofibromatosis (NF) amawoneka bwanji?

Izi zimasiyana kwambiri malinga ndi munthu. Anthu ena amatha kuona ziphuphu zazing'ono, zozungulira (pafupifupi sentimita imodzi m'lifupi, pafupifupi kukula kwa nandolo) pakhungu lawo. Izi ndi neurofibromas. Anthu ena akhoza kukhala ndi ziphuphu zoposa ziwiri, kapena akhoza kukhala ndi chotupa chachikulu (plexiform neurofibroma) chomwe chimapangidwa ndi mitsempha ingapo pansi pa khungu.

Tinakambirana za malo opezeka ku cafe au lait. Malo amenewa amatha kukhala osiyanasiyana kukula ndi mawonekedwe kuyambira a bulauni wopepuka mpaka a bulauni wakuda. Nthawi zambiri muwona malo asanu ndi limodzi kapena kuposerapo .

Ndi zachilendo kukhala ndi madontho pankhope pathu. Koma mu NF, madontho amenewa amawonekera m'khwapa ndi m'mimba.Izi ndi zomwe zimapezeka kwambiri. Zimawoneka ngati madontho ang'onoang'ono ofiira ngati bulauni.

Kodi zizindikiro za Neurofibromatosis (NF) zimawonekera pa msinkhu wanji?

Izi zimasiyananso malinga ndi munthu. Zizindikiro zina zitha kupezeka pobadwa. Zina zingawonekere mukamakula, muli achinyamata, kapena mutakula. Mwachitsanzo, ma neurofibromas amatha kupezeka pakhungu la ana ena akamabadwa. Koma nthawi zambiri amawoneka ali achinyamata. Madontho a cafe au lait amapezeka kwambiri m'zaka zoyambirira za moyo wa mwana. Madontho pa groin ndi m'khwapa amatha kuwoneka pakati pa zaka 3 ndi 5. Zizindikiro za schwannomatosis nthawi zambiri zimayamba munthu akakula, pafupifupi zaka 30.

Kodi n’chiyani chimayambitsa matenda a Neurofibromatosis (NF)?

Chifukwa chachikulu cha izi ndi kusintha (kusintha) kwa majini athu . Tiyeni tiwone chomwe chimayambitsa mtundu uliwonse:

• Mtundu woyamba wa Neurofibromatosis (NF1): Tili ndi jini yotchedwa NF1 m'thupi lathu. Izi zimalamulira kupanga puloteni yotchedwa neurofibromin. Ntchito ya puloteni iyi ndikuletsa kupangika kwa zotupa.
• Matenda a schwannomatosis/Neurofibromatosis amtundu wachiwiri (NF2) omwe amagwirizana ndi NF2: Izi zimachitika chifukwa cha jini yotchedwa NF2 (merlin) . Izi zimalamuliranso puloteni ina yotchedwa neurofibromin. Puloteni iyi imaletsanso kupangika kwa zotupa.
• Schwannomatosis: Izi zitha kuchitika chifukwa cha kusintha kwa majini a SMARCB1 kapena LZTR1 . Komabe, nthawi zambiri, jini yeniyeni yomwe imayambitsa vutoli siingadziwike.

Mwachidule, ngati pali kusintha kwa majini anayi awa, mapuloteniwo salandira malangizo ofunikira kuti alamulire kukula kwa maselo athu. Pamenepo ndi pamene zotupa zimayamba kupangika m'thupi.

Mukhoza kulandira NF1 kapena NF2 kuchokera kwa makolo anu, yomwe imatchedwa autosomal dominant pattern . Izi zikutanthauza kuti muyenera kungotenga kopi ya jini yosinthidwa kuchokera kwa m'modzi mwa makolo anu kuti mupeze vutoli. Komabe, pafupifupi theka la anthu omwe ali ndi NF1 amakula mwadzidzidzi, popanda mbiri ya banja. Izi zitha kuchitikanso kwa anthu omwe ali ndi NF2. Pafupifupi 85% ya anthu omwe ali ndi schwannomatosis amakula mwadzidzidzi, popanda mbiri ya banja.

Kodi ndi zinthu ziti zomwe zimayambitsa matenda a Neurofibromatosis (NF)?

Matendawa amatha kufalikira mwa aliyense, koma ngati wina m'banja mwanu ali ndi chimodzi mwa matenda a NF awa, inunso muli ndi mwayi waukulu woti muwapeze.

Kodi mavuto omwe angakhalepo chifukwa cha Neurofibromatosis (NF) ndi ati?

Matenda a NF angayambitse mavuto ena. Ena mwa mavutowa ndi awa:

• Kutaya kumva.
• Kuchepa kwa masomphenya.
• Kupweteka kosalekeza.
• Mavuto a kuphunzira ndi khalidwe.
• Matenda a mtima - mwachitsanzo, kuthamanga kwa magazi, matenda a mtima obadwa nawo.
• Mavuto odzidalira chifukwa cha matenda a khungu.
• Chiwopsezo chachikulu chotenga khansa kuposa anthu onse, kuphatikizapo khansa ya m'mawere ndi khansa ya minofu yofewa (sarcoma).

Chofunika: Zotupa zambiri za NF si khansa. Komabe, nthawi zambiri, zotupa zina za NF zimatha kukhala khansa. Chifukwa chake, ndikofunikira kwambiri kupita kuchipatala nthawi zonse.

Kodi matenda a Neurofibromatosis (NF) amawapeza bwanji?

Dokotala adzakuyesani ndikuchita mayeso ofunikira kuti adziwe matenda a NF. Choyamba adzakuyesani khungu lanu kuti aone zizindikiro za mawanga a cafe au lait kapena neurofibromas. Adzayesaninso scoliosis, kuthamanga kwa magazi, masomphenya, ndi kumva. Adzakufunsaninso za thanzi lanu komanso mbiri yanu yachipatala ya banja. Chifukwa chake, ngati mukudziwa kuti wina m'banja mwanu ali ndi matenda a NF, onetsetsani kuti mwauza dokotala wanu.

Njira zodziwira mtundu uliwonse wa NF ndi zosiyana. Ngakhale kuti kuyezetsa kuchipatala nthawi zambiri kungapangitse kuti munthu adziwe matendawa, mayeso ena angathandize kudziwa chomwe chimayambitsa zizindikiro zanu. Mayeso ojambula zithunzi, monga MRI, X-ray, kapena CT scan, angasonyeze momwe vutoli lakhudzira mitsempha yanu. Kuyezetsa majini kungathandizenso kuzindikira kusintha kwa majini komwe kumayambitsa zizindikiro zanu. Komabe, madokotala sanazindikire majini onse omwe amayambitsa matendawa.

Nthawi zina, zizindikiro sizipezeka mpaka patatha zaka zambiri kuchokera pamene zaonekera. Anthu ena amapezeka atakula. Izi zili choncho chifukwa zizindikiro za NF zimakula pakapita nthawi, pang'onopang'ono.

Kodi mankhwala a Neurofibromatosis (NF) ndi ati?

Izi ndizofunikira kwambiri: Chithandizo chanu cha NF chiyenera kuchitika motsogozedwa ndi gulu la madokotala osiyanasiyana omwe ali ndi luso pa odwala a NF . Gululi nthawi zambiri limaphatikizapo:

• Madokotala a matenda a mitsempha ndi khansa.
• Madokotala a opaleshoni ya ubongo.
• Madokotala a opaleshoni ya khutu, mphuno ndi pakhosi (madokotala a ENT).
• Madokotala a opaleshoni ya pulasitiki.
• Akatswiri a zamaganizo.
• Akatswiri a za makutu.
• Alangizi a majini.

Ngakhale kuti pakadali pano palibe mankhwala a NF, pali kupita patsogolo kwakukulu pakupeza ndi kuchiza zotupa zokhudzana ndi NF. Dokotala wanu adzakutsogolerani ku chithandizo chabwino kwambiri cha vuto lanu.

Ngati mulibe zizindikiro, kapena zizindikiro zanu sizikusokoneza moyo wanu watsiku ndi tsiku, simungafunike chithandizo chilichonse. Zikatero, dokotala wanu adzakupemphani kuti mubwere kudzayezetsa kamodzi kapena kawiri pachaka kuti aone momwe matendawa akuyendera.

Dokotala angakulimbikitseni njira zochiritsira monga:

• Kuchotsa chotupa:Kuchita opaleshoni kungachotse zotupa pakhungu ndi kwina kulikonse m'thupi.
• Mankhwala: Mankhwala otchedwa selumetinib avomerezedwa ndi bungwe la US Food and Drug Administration (FDA) kuti aletse kukula kwa maselo a chotupa mwa ana azaka zapakati pa 2 ndi 18 omwe ali ndi NF1 omwe ali ndi zotupa za plexiform neurofibroma zomwe sizingachotsedwe ndi opaleshoni, kapena omwe zotupa zawo zayambitsa chilema kapena kupunduka.
• Opaleshoni yokonza zolakwika pakukula kwa mafupa: Ngati muli ndi scoliosis kapena zolakwika zina pakukula kwa mafupa, dokotala wanu angakulangizeni kuti muvale brace kapena, pakakhala zovuta kwambiri, opaleshoni.
• Chemotherapy: Mankhwalawa amaperekedwa pa zotupa zoopsa. Chemotherapy imawononga maselo a khansa.
• Chithandizo cha radiation: Chithandizo cha radiation chingagwiritsidwe ntchito kuwongolera kukula kwa chotupa mu khansa monga khansa ya m'mawere, khansa ya minofu yofewa yotchedwa sarcoma, malignant peripheral nerve sheath tumors (MPNST), kapena glioma (chotupa cha muubongo).

Ngati kumva kwanu kapena maso anu akhudzidwa ndi NF, dokotala wanu angakulangizeni zipangizo zothandizira monga zothandizira kumva kapena magalasi owongolera.

Kodi pali zotsatirapo zilizonse za mankhwalawa?

Chithandizo chilichonse chingakhale ndi zotsatirapo zina. Dokotala wanu adzakudziwitsani za zotsatirapo izi musanayambe kulandira chithandizo.

Zotsatirapo zomwe zingachitike chifukwa cha opaleshoni:

• Kutuluka magazi.
• Matenda.
• Ma neurofibromas amabwereranso pambuyo pochotsedwa.
• Kuwonongeka kwa mitsempha.

Zotsatira zoyipa za chemotherapy:

• Kutopa.
• Kutsegula m'mimba kapena kudzimbidwa.
• Kutaya tsitsi.
• Chakudyacho sichikoma.
• Kusanza ndi kusanza.

Kodi munthu amene ali ndi matenda a Neurofibromatosis (NF) amakhala ndi moyo wautali bwanji?

Matenda a Neurofibromatosis (NF) nthawi zambiri sakhudza kwambiri moyo wanu. Komabe, kutengera komwe kuli zotupa, zochita zanu za tsiku ndi tsiku, monga kumva ndi kuwona, zingakhale zovuta kuchita popanda thandizo. Ngati sizikuthandizidwa, mavuto ena, monga khansa, akhoza kukhala pachiwopsezo.

Kodi matenda a Neurofibromatosis (NF) angapewedwe?

Pakadali pano palibe njira yodziwika yopewera matenda a NF. Ngati mukukonzekera kuyambitsa banja, ndi bwino kulankhula ndi mlangizi wa majini kuti mudziwe zambiri za chiopsezo chokhala ndi mwana wokhala ndi vuto la majini.

Kodi ndiyenera kupita kwa dokotala liti?

Pitani kwa dokotala ngati inu kapena mwana wanu mwawona zizindikiro za NF pakhungu lake:

• Kukhala ndi malo asanu ndi limodzi kapena kuposerapo a cafe au lait.
• Ziphuphu za pakhungu zimaonekera popanda chifukwa.
• Kukhala ndi madontho m'khwapa kapena m'mimba.

Zizindikiro zina zomwe zimafuna kukaonana ndi dokotala:

• Kusintha kwa kumva kwanu ndi/kapena masomphenya.
• Ululu wopanda chifukwa.
• Kufooka kwa minofu.
• Kusamva kupweteka kapena kumva kuwawa m'zala ndi zala zakumapazi.

Ngati muli ndi NF, dokotala wanu angakulangizeni kuti mubwere kudzaonana ndi dokotala nthawi zonse (nthawi zambiri miyezi 6 mpaka 12 iliyonse) kuti muwone zizindikiro zanu. Onetsetsani kuti mwakonza nthawi yokumananso ngati mukupeza zizindikiro zatsopano kapena ngati chizindikiro chomwe chilipo chikukulirakulira.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

• Kodi n’chiyani chikuchititsa zizindikiro zanga?
• Kodi chiopsezo cha ana anga amtsogolo cholowa m'vutoli ndi chiyani?
• Kodi mumalimbikitsa chithandizo chamtundu wanji?
• Kodi pali zotsatirapo zilizonse za mankhwalawa?
• Kodi ndiyenera kubwera kangati kudzandiyesanso?
• Kodi pali mayesero aliwonse azachipatala omwe ndingapeze?
• Kodi ndiyenera kupita kwa katswiri wa za kubereka?

Matenda a Neurofibromatosis ndi matenda omwe amakhudza mitsempha yanu ndi khungu lanu. Amatha kukhudzani m'njira zosiyanasiyana. Mungakhale ndi zizindikiro zomwe zimasokoneza zochita zanu za tsiku ndi tsiku, kapena simungakhale ndi zizindikiro konse. Nthawi zambiri, kutengera momwe zizindikiro zanu zimakulira mukamakula, zingatenge zaka kuti mudziwe matenda ovomerezeka. Mukazindikira matendawa, kudziwa bwino zomwe zikuchitika kungakhale mpumulo waukulu. Gulu lanu lachipatala lingakuthandizeni kudziwa zambiri za momwe matendawa angakukhudzireni inu komanso banja lanu lamtsogolo. Ngakhale kuti palibe mankhwala, pali njira zina zochiritsira.

Chinthu chofunika kwambiri kukumbukira (Uthenga Wopita Nawo Kunyumba)

Neurofibromatosis (NF) si chinthu choopa, koma ndi chinthu chodziwika bwino.

• Ngati muli ndi mawanga osazolowereka, ziphuphu pakhungu lanu, kapena mawanga ambiri m'khwapa/m'mimba mwanu, pitani kwa dokotala .
• Pali mitundu yosiyanasiyana ya NF, ndipo zizindikiro zake zimasiyana pa chilichonse.
• Uwu ndi matenda a majini, koma nthawi zina samachitika m'mabanja.
• Ngakhale kuti palibe mankhwala, pali njira zambiri zothandizira kuchepetsa zizindikiro ndikukhala ndi moyo wabwino .
• Ndikofunikira kwambiri kulandira chithandizo motsogozedwa ndi gulu la akatswiri azachipatala.
• Ndikofunikira kupita kukayezetsa kuchipatala nthawi zonse komanso kukhala maso ndi zizindikiro zatsopano.

Ngati muli ndi mafunso ena okhudza izi, musazengereze kulankhula ndi dokotala wanu. Adzakhala okondwa kukuthandizani.

Neurofibromatosis , NF, zotupa za mitsempha, mawanga a café-au-lait, matenda a majini, mawanga a pakhungu, dongosolo lamanjenje