Kodi muli ndi madontho pakhungu lanu kapena zotupa pathupi lanu? Izi zitha kukhala Neurofibromatosis Type 1 (NF1)!

Lero tikambirana za vuto lomwe ndi lovuta pang'ono, koma lingakhale lofunika kwa anthu ambiri. Mwachidule timalitcha kuti Neurofibromatosis Type 1, kapena (NF1). Mwina simunamvepo za dzinali. Koma tiyeni tikambirane za dzinali mosavuta, m'njira yomwe mungamvetse.

Kodi Neurofibromatosis Type 1 (NF1) ndi chiyani?

Mwachidule, (NF1) ndi matenda omwe amakhudza khungu lanu ndi dongosolo lanu la mitsempha (ndiko kuti, ubongo wanu , chingwe cha msana , ndi mitsempha ina yonse). Uwu ndi matenda omwe amachititsa kusintha pang'ono momwe maselo ena m'thupi lathu amakulira. Izi zimapangitsa kuti zotupa zomwe sizili ndi khansa (zosavulaza) zipangidwe. Izi zimatchedwa neurofibromas . Zotupa izi zimapangidwa pa mitsempha mu ubongo wanu, chingwe cha msana, ndi khungu. Chimodzi mwa zizindikiro zazikulu zomwe zimawonedwa mwa anthu omwe ali ndi (NF1) ndikuti ali ndi mawanga ambiri pakhungu lawo. Matendawa amathanso kukhudza maso ndi mafupa. Nthawi zina madokotala amatchanso matenda a Von Recklinghausen, omwe mwina mudamvapo.

Kodi matenda a Neurofibromatosis Type 1 (NF1) ndi ofala bwanji?

Uwu ndi mtundu wofala kwambiri wa neurofibromatosis. Ndipotu, 96% ya odwala onse a neurofibromatosis ali ndi NF1. Padziko lonse lapansi, akuti pafupifupi mwana m'modzi mwa ana 3,000 aliwonse obadwa chaka chilichonse ali ndi NF1.

Kodi zizindikiro za NF1 ndi ziti?

Zizindikiro za (NF1) makamaka zimayambitsidwa ndi kupsinjika kwa mitsempha. Onani ngati zizindikiro izi zikumveka zachilendo kwa inu:

• Madontho opitilira asanu ndi limodzi a cafe au lait: Awa amawoneka ngati madontho athyathyathya, ofiirira pang'ono mpaka akuda pakhungu, ofanana ndi zizindikiro zobadwa nazo .
• Ma neurofibroma awiri kapena angapo pansi pa khungu: Zotupa izi zimatha kufalikira kulikonse mthupi. Zitha kukhala zazing'ono ngati nandolo kapena zazikulu. Zitha kukhala zofewa mukakhudza kapena zolimba pang'ono. Nthawi zambiri, khungu lozungulira zotupa izi limakhala lakuda kuposa mtundu wa khungu lanu wamba.
• Zimawoneka ngati madontho ang'onoang'ono (madontho) m'khwapa, m'mimba, komanso nthawi zina pansi pa mabere.
• Kupangika kwa ziphuphu zazing'ono (Lisch nodules ) mu iris kapena zotupa za mitsempha ya optic (optic glioma) komanso kuwonongeka kwa maso.
• Zovuta pakukula kwa mafupa:Mwachitsanzo, pakhoza kukhala zinthu monga scoliosis kapena mafupa a miyendo yowerama, mutu waukulu kuposa wamba (macrocephaly), ndi wamfupi.
• Matenda a ADHD ( ADHD ) osowa chidwi/ osagwira ntchito kwambiri .
• Kupweteka m'malo omwe zotupa zapangika, kuvutika kuyenda, komanso kuvutika kugwira ntchito m'ziwalo zoyenera.

Zizindikiro zimenezi zingakhale zochepa kwambiri kwa anthu ena, ndipo zingakhudze ena kwambiri. Komanso, si zizindikiro zonsezi zomwe zimapezeka kuyambira kubadwa. Zimawonekera nthawi zosiyanasiyana pa moyo wawo wonse. Chifukwa chake, momwe zimakhudzira munthu aliyense ndi zosiyana.

Kodi n’chiyani chimayambitsa matenda a Neurofibromatosis Type 1 (NF1)?

Chifukwa chachikulu cha NF1 ndi kusintha kwa majini athu amodzi, komwe kumatchedwa kusintha kwa majini. Jini iyi imatchedwa Neurofibromin 1 gene. Jini iyi ya Neurofibromin 1 imauza thupi lathu kuti lipange puloteni yotchedwa neurofibromin. Puloteni iyi ndi yofunika kwambiri chifukwa imayang'anira kuchuluka kwa maselo omwe amagawikana komanso kuchuluka kwa makope omwe amapanga. Kunena zoona, iyi ndi puloteni yomwe imaletsa zotupa kuti zisapangidwe (chotupa choletsa) .

Kotero, pamene thupi sililandira malangizo oyenera opangira puloteni ya neurofibromin iyi, maselo ena sagawikana bwino ndikuberekana. M'malo mwake, amapanga makope ambiri kuposa momwe amafunikira. Pamenepo ndi pomwe zotupa zimapanga. Chotupa ndi minofu yolimba yomwe imapangidwa ndi maselo ambiri osazolowereka.

Mukhoza kulandira kusintha kwa majini kuchokera kwa mmodzi wa makolo anu. Izi zimatchedwa autosomal dominant pattern of inheritance . Komabe, mutha kukhala ndi kusintha kwa majini kumeneku ngakhale palibe aliyense m'banja mwanu amene ali ndi vutoli. Pafupifupi theka la anthu omwe ali ndi NF1 amakula mwadzidzidzi. Izi zikutanthauza kuti kusintha kwa majini kumachitika mwangozi ndipo sikuchokera kwa aliyense.

Kodi mavuto omwe angakhalepo chifukwa cha matenda a Neurofibromatosis Type 1 (NF1) ndi ati?

(NF1) ingayambitse mavuto ena. Nazi zina mwa izo:

• Mungataye maso anu.
• Kusweka kapena kusokonekera kwa kukula kwa mafupa (dysplasia) kungachitike.
• Mitsempha imatha kuonongeka.
• Kuthamanga kwa magazi (kuthamanga kwa magazi) kungachitike.
• Ngakhale mutalandira chithandizo ndi kuchotsedwa, zotupa zimatha kubwereranso.
• Kudzidalira kungachepe.

Chofunika kwambiri n'chakuti, zina mwa zotupa zomwe zimapezeka mu NF1 ndi khansa.Pali kuthekera kuti vutoli likhoza kukhala vuto. Chifukwa chake, ndikofunikira kwambiri kusamala ndi izi.

Kodi NF1 imapezedwa bwanji?

Dokotala adzakuyang'anirani ndikukuyesani kuti adziwe ngati muli ndi NF1. Choyamba adzakuyesani thupi, adzakufunsani za zizindikiro zanu, ndikupeza momwe zimakukhudzirani.

Kuphatikiza apo, mutha kuchita mayeso monga awa:

• Mayeso ojambulira zithunzi: Mwachitsanzo, MRI, X-ray, kapena CT scan.
• Kuyesa majini.
• Kuyezetsa maso.

Anthu ambiri amapezeka ndi NF1 akakula. Izi zili choncho chifukwa zizindikiro sizimawonekera nthawi imodzi, koma zimakula pang'onopang'ono pakapita nthawi. Mwachitsanzo, mungakhale ndi mawanga a cafe au lait pobadwa, kapena angawonekere mkati mwa zaka zingapo zoyambirira. Komabe, zingatenge zaka 3-5 kuti madontho awonekere m'khwapa ndi m'mimba. Neurofibromas ndi mtundu wa chotupa chomwe chimapezeka kwambiri akakula. Nthawi zambiri, anthu amapita kuchipatala kuti akasinthe masomphenya.

Kodi matenda a Neurofibromatosis Type 1 (NF1) amachiritsidwa bwanji?

Pakadali pano palibe mankhwala a vutoli (NF1). Komabe, dokotala angakuthandizeni kuthana ndi zizindikiro zanu. Njira zochiritsira zimasiyana malinga ndi momwe zizindikiro zanu zimakukhudzirani. Nazi zina mwa njira zochiritsira zomwe zilipo:

• Opaleshoni yochotsa chotupa.
• Chemotherapy ndi mankhwala a zotupa zomwe zakhala khansa.
• Zinthu monga opaleshoni kapena zomangira mafupa zomwe zimathandizira kukula kwa mafupa.
• Mankhwala oletsa kukula kwa chotupa: Mwachitsanzo, mankhwala otchedwa selumetinib.
• Mankhwala oletsa zizindikiro zina: Mwachitsanzo, mankhwala a ADHD.

Ngati muli ndi NF1, ndikofunikira kupita kwa dokotala kamodzi pachaka kuti akakufufuzeni bwino. Muyeneranso kupita kukayezetsa maso chaka chilichonse. Kuphatikiza apo, ndikofunikira kwambiri kukayezetsa kuthamanga kwa magazi anu kamodzi pachaka kuti muwone ngati pali zovuta.

Kodi muyeneranso kuganizira za thanzi la maganizo?

Inde, ndithudi. Kawirikawiri vutoli limakukhudzani m'maganizo. Anthu ambiri amapeza mpumulo polankhula ndi katswiri wa zamaganizo . Kapena, kulowa nawo gulu lothandizira komwe anthu omwe ali ndi matenda ofanana amasonkhana kungathandizenso kwambiri. Chifukwa nthawi zina, pamene zotupa ndi mawanga awa akuwonekera m'malo omwe ena amawaona, mungakhale ndi nkhawa ndi mawonekedwe anu. Chifukwa chake, ndi bwino kwambiri kulankhula ndi dokotala kapena mlangizi wa zamaganizo za zinthu ngati izi.

Kodi pali zotsatirapo zilizonse za mankhwalawa?

Inde, zotsatirapo zake zimatha kusiyana malinga ndi mtundu wa chithandizo. Dokotala wanu adzakufotokozerani izi musanayambe chithandizo. Mwachitsanzo, ngati mwachitidwa opaleshoni, mutha kutuluka magazi ndi matenda. Ngati mwachitidwa chemotherapy, mutha kutaya tsitsi ndi kutopa.

Kodi matenda a Neurofibromatosis Type 1 (NF1) angapewedwe?

Pakadali pano palibe njira yodziwika yopewera NF1. Komabe, ngati mukufuna kuyamba banja, ndiye kuti, ngati mukuyembekeza kukhala ndi mwana, mutha kulankhula ndi dokotala ndikufunsa za upangiri wa majini . Izi zingakuthandizeni kumvetsetsa bwino mwayi wokhala ndi mwana yemwe ali ndi matenda a majini monga NF1.

Kodi munthu amene ali ndi NF1 amakhala ndi moyo wautali bwanji?

Kawirikawiri, ngati zizindikiro zanu sizili zazikulu, NF1 sizimakhudza mwachindunji nthawi yomwe mumakhala ndi moyo. Anthu ambiri amakhala ndi moyo wabwinobwino. Komabe, ngati mavuto achitika (ngakhale kuti si achilendo), makamaka ngati pali zotupa zambiri zoti zichotsedwe bwino pochita opaleshoni, kapena ngati zotupazo zikukhala khansa, zingakhudze nthawi yomwe mumakhala ndi moyo (prognosis).

Kodi mungayembekezere chiyani ngati mutapezeka ndi NF1?

(NF1) ndi matenda omwe amakhudza anthu mosiyana. Anthu ena sangakhale ndi zizindikiro zazikulu zokwanira kusokoneza zochita za tsiku ndi tsiku. Ena akhoza kukhala ndi mavuto a maso kapena ululu womwe umawapangitsa kukhala ovuta kuyenda.

Anthu ambiri amaona kuti n’kothandiza kulankhula ndi katswiri wa zamaganizo pamene zizindikiro zawo zikukhudza thanzi lawo la maganizo komanso momwe amaganizira za thupi lawo. Chifukwa chakuti zotupazi, monga matuza ndi zizindikiro zoberekera, nthawi zina zimatha kuonekera kwa ena, mungamve manyazi kapena manyazi ndi mawonekedwe anu. Dokotala angakuthandizeni kuthana ndi malingaliro awa ndi zizindikiro zilizonse zomwe zikukupangitsani kukhala osasangalala.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati muli ndi zizindikiro za NF1, makamaka mawanga opitilira asanu ndi limodzi a cafe au lait, kusintha kwa khungu kosamveka bwino, kapena kusintha kwa masomphenya, pitani kwa dokotala nthawi yomweyo. Ngati mukulandira kale chithandizo cha NF1, uzani dokotala wanu ngati zizindikiro, monga kupweteka, zikuwonjezeka kapena zikuipiraipira.

Kuphatikiza apo, ndikofunikira kukayezetsa kuchipatala kamodzi pachaka . Izi zingathandize kuonetsetsa kuti ziwalo zotsatirazi za thupi lanu zomwe zingakhudzidwe ndi NF1 zikugwira ntchito bwino:

• Maso
• Dongosolo la mitsempha
• Khungu
• Matenda a mtima
• Msana

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Mukapita kwa dokotala, mungafunse mafunso monga awa:

• Kodi ndiyenera kuyembekezera chiyani nditapezeka ndi matenda a (NF1)?
• Kodi ana anga amtsogolo angalandire vutoli?
• Kodi mumalimbikitsa chithandizo chanji? Kodi pali zotsatirapo zilizonse zoyipa?
• Kodi zotupa zimatha kumeranso zitachotsedwa?
• Kodi ndiyenera kubwera kangati kudzakumana ndi dokotala nthawi yotsatira?

Pomaliza, zinthu zoti muzikumbukira (Uthenga Wopita Nawo Kunyumba)

Mtundu woyamba wa Neurofibromatosis (NF1) ndi mtundu wofala kwambiri wa neurofibromatosis. Umatha kukhudza ziwalo zambiri za thupi lanu, makamaka khungu lanu ndi dongosolo lanu la mitsempha. Zizindikiro zanu zingakhudze moyo wanu watsiku ndi tsiku komanso momwe mumamvera thupi lanu. Koma musadandaule. Gulu lanu lachipatala lingakuthandizeni kupeza chithandizo chabwino kwambiri cha vuto lanu. Ngati zizindikiro zanu zikukhudza kudzidalira kwanu, mungaone kuti n'kothandiza kulankhula ndi mlangizi wa zaumoyo wamaganizo . Ngati mukudziwa kale kuti muli ndi NF1 ndipo mukukonzekera kuyambitsa banja, musaiwale kulankhula ndi dokotala wanu za uphungu wa majini.

Simuli nokha, pali anthu ambiri oti akuthandizeni paulendowu.