Kodi McCune-Albright Syndrome ndi chiyani? Tiyeni tikambirane za izi!

Tonsefe timasamala za thanzi la ana athu, sichoncho? Nthawi zina, ndi zachilendo kumva mantha pang'ono tikawona kusintha pang'ono m'thupi la ana athu komwe sitikuyembekezera. Mwina ndi banga lofiirira pakhungu, kapena kusintha pang'ono kwa kukula kwa mafupa, kapena china chake chonga mwana amene akulowa msinkhu msanga kuposa momwe amayembekezera. Izi sizimakhala zoopsa nthawi zonse, koma nthawi zina zimatha kukhala zizindikiro za matenda osowa a majini. Chimodzi mwa matenda osowa kwambiri, koma ofunikira kudziwa, omwe tikambirane lero ndi McCune-Albright Syndrome.

Kodi McCune-Albright Syndrome ndi chiyani?

Mwachidule, matenda a McCune-Albright ndi matenda obadwa nawo. Amakhudza makamaka mafupa a mwana, khungu, ndi dongosolo la endocrine, kapena tiziwalo timene timatulutsa mahomoni . Matendawa angayambitse zinthu monga zipsera m'mafupa (zomwe timazitcha "fibrous dysplasia"). Amayambitsanso mawanga apadera (pigmentation) pakhungu, ndipo tiziwalo tina tomwe timalamulira kukula timayamba kugwira ntchito mopitirira muyeso.

Kumbukirani kuti ana ena sangakhudzidwe kwambiri ndi vutoli, koma ali ndi zizindikiro zochepa kwambiri. Komabe, kwa ena, vutoli likhoza kukhala lalikulu kwambiri, nthawi zina ngakhale kupha. Choncho ndikofunikira kudziwa izi.

Ndani amene akukhudzidwa kwambiri ndi vutoli?

Matenda a McCune-Albright ndi zotsatira za kusintha kwa majini kwatsopano . Izi zikutanthauza kuti si chinthu chomwe chimabadwa kuchokera kwa makolo kupita kwa ana. Sitingathe kuneneratu nthawi komanso momwe kusintha kwa majini kumeneku kudzachitikira. Nthawi zambiri, kusintha kwa majini kumeneku kumachitika munthu akatenga pakati/kubereka, pamene mwana watenga pakati m'mimba mwa mayi ake, chifukwa cha cholakwika pakugawa maselo ndi kuberekana.

Kumbukirani izi: Kusintha kwa majini kumeneku sikunayambitsidwe ndi chilichonse chimene makolo anachita kapena chomwe sanachite panthawi ya mimba. Choncho musadandaule nazo.

Kodi vutoli ndi lofala bwanji?

Ndipotu, matenda a McCune-Albright ndi vuto losowa kwambiri. Padziko lonse lapansi, akuti vutoli limapezeka mwa pafupifupi mwana mmodzi pa ana 100,000 aliwonse kapena 1 miliyoni . Choncho, si chinthu chomwe chimawoneka kawirikawiri.

Kodi McCune-Albright Syndrome imakhudza bwanji thupi la mwana?

Matendawa angakhudze thupi la mwana m'njira zosiyanasiyana. Makamaka, angakhudze kukula kwa mafupa ndi kugwira ntchito kwa dongosolo la endocrine (hormone system), zomwe zingakhudze kutalika ndi kulemera kwa mwana .

Komanso, mungaone mawanga a bulauni pakhungu la mwana wanu (otchedwa "mawanga a café-au-lait"). Chinthu china chofunika ndi chakuti ana enaKuwonetsa zizindikiro za kutha msinkhu ali wamng'ono kwambiri.

Ngati mukuona kuti mwana wanu akuvutika kukula bwino chifukwa cha zizindikirozi, ndikofunikira kwambiri kufunafuna upangiri wa dokotala nthawi yomweyo. Dokotala adzakupatsani dongosolo la chithandizo lomwe likugwirizana ndi mwana wanu ndipo lingathandize kuwongolera zizindikirozo.

Kodi zizindikiro za McCune-Albright Syndrome ndi ziti?

Zizindikiro za vutoli zimawonekera makamaka m'mafupa, pakhungu, ndi m'thupi (hormone system) . Komabe, zizindikirozi sizimawoneka mofanana kapena moopsa mofanana mwa mwana aliyense. Zitha kusiyana malinga ndi mwana.

Zizindikiro za mafupa

Chinthu chachikulu komanso chofala kwambiri chomwe chimachitika chifukwa cha mafupa ndi matenda otchedwa ``fibrous dysplasia.'' Mwachidule, izi zimachitika pamene minofu ya zipsera imakula mkati mwa mafupa m'malo mwa minofu ya mafupa yathanzi. Chifukwa chake, pamene mwana akukula, malo omwe minofu ya fibrous iyi ili amakhala ofooka. Izi zingayambitse kusweka, kapena mafupa amatha kukula molakwika komanso kusokonekera . Kutengera ndi kuchuluka kwa mafupa omwe akhudzidwa, vutoli la ``fibrous dysplasia'' likhoza kukhala lofatsa mwa anthu ena komanso loopsa kwa ena.

Chinthu china n'chakuti, kawirikawiri, kutanthauza kuti anthu ochepera 1% omwe ali ndi vutoli, "fibrous dysplasia" iyi ingayambitse zilonda zamafupa/zotupa za khansa. Ndi zosowa kwambiri, koma ndibwino kudziwa.

Zizindikiro zina zokhudzana ndi mafupa ndi izi:

• Kukula kwa mafupa a nkhope kosagwirizana.
• Kupweteka kwa mafupa ndi kusasangalala.
• Kuvutika kuyenda kapena kusuntha (Kutaya mphamvu yoyenda).
• Matenda omwe amafooketsa mafupa, monga `Rickets` kapena `osteomalacia`.
• Scoliosis.
• Kutalika kwa msinkhu.
• Kusakula bwino kwa mafupa m'miyendo (izi zingayambitse kuyenda movutikira).

Zizindikiro za khungu

Ana ena obadwa ndi matenda a McCune-Albright amakhala ndi mtundu wa khungu wosiyana ndi madera ena a khungu lawo. Madonthowa amatha kukhala a bulauni wopepuka mpaka a bulauni wakuda . Alinso ndi malire ozungulira. Awa amatchedwa madontho a café-au-lait. Angawonekere mbali imodzi yokha ya thupi. Pamene mwana akukula, madonthowa amatha kuonekera kwambiri ndipo angachuluke.

Zizindikiro za dongosolo la endocrine

Matendawa angakhudze dongosolo la endocrine la mwana, lomwe ndi dongosolo la glands lomwe limapanga mahomoni. Zotsatira zake, ana amatha kusonyeza zizindikiro za kutha msinkhu ali aang'ono kwambiri . Makamaka atsikana amatha kuyamba kusamba ali ndi zaka ziwiri.Izi zimachitika chifukwa ma cysts m'mazira awo amapanga estrogen yochulukirapo, mahomoni achikazi ogonana. Anyamata amathanso kuwona zizindikiro zoyambirira za kutha msinkhu.

Pafupifupi 50% ya anthu omwe ali ndi vuto la McCune-Albright amakhala ndi chithokomiro chokulirapo . Chithokomiro chikakula, chimapanga mahomoni ambiri a chithokomiro. Matendawa amatchedwa hyperthyroidism. Izi zingayambitse zizindikiro monga kugunda kwa mtima mwachangu, thukuta kwambiri, kuthamanga kwa magazi, komanso kuchepa thupi .

Zizindikiro zina zokhudzana ndi dongosolo la endocrine ndi izi:

• Kupanga mahomoni okulirapo kwambiri ndi pituitary gland. Izi zingayambitse miyendo yokulirapo, nkhope yozungulira, ndi/kapena matenda ofanana ndi a nyamakazi (acromegaly).
• Ma adrenal glands amatulutsa mahomoni ambiri opsinjika a cortisol. Izi zingayambitse matenda otchedwa Cushing's syndrome, omwe amadziwika ndi kunenepa kwambiri komanso kuchedwa kukula.

Kodi chifukwa chake ndi chiyani?

Matenda a McCune-Albright amayamba chifukwa cha kusintha kwa majini a GNAS1. Jini ya GNAS1 imapanga mapuloteni omwe amalamulira ntchito ya mahomoni. Chifukwa chake, pakachitika kusintha kwa majini awa, enzyme yotchedwa adenylate cyclase (yomwenso ndi puloteni) imayamba kupanga mahomoni ambiri. Ndicho chifukwa cha zizindikirozi.

Chofunika kwambiri ndichakuti kusintha kwa majini kumeneku kumachitika mwana akangobadwa m'mimba mwa mayi ake (somatic mutation). Izi zikutanthauza kuti, si vuto lomwe limatengera kwa makolo kupita kwa mwana. Izi sizichitika chifukwa cha kulakwitsa kulikonse kwa mayi kapena bambo, kapena china chake chomwe adachita kapena sanachite panthawi ya mimba. Komanso, palibe milandu yotsimikizika ya munthu yemwe ali ndi vuto la McCune-Albright wokhala ndi mwana yemwe ali ndi vuto lomweli. Chifukwa chenicheni cha "somatic mutation" sichinapezekebe. Kafukufuku akusonyeza kuti izi ndi zochitika mwachisawawa, zongochitika zokha.

Kodi matendawa amapezeka bwanji?

Matenda a McCune-Albright nthawi zambiri amapezeka ali mwana. Dokotala amamufufuza mwanayo ndikuwona ngati ali ndi vuto la endocrine system, zilonda za pakhungu monga "mabala a café-au-lait" ndi "fibrous dysplasia". Matendawa nthawi zambiri amapezeka pambuyo poti zizindikiro za kutha msinkhu kapena kukula kwa mafupa kwachilendo zaonekera.

Ndi mayeso amtundu wanji omwe amachitidwa pa izi?

Mayeso ozindikira matendawa ndi awa:

• Kuyezetsa magazi: Kuyang'ana momwe dongosolo la endocrine (dongosolo la mahomoni) limagwirira ntchito.
• Kuyesa majini:Dziwani kusintha kwa majini komwe kukuyambitsa zizindikiro zanu. Izi nthawi zambiri zimaphatikizapo kutenga chitsanzo chaching'ono cha khungu kapena minofu ina ndikuyesa.
• Mayeso ojambulira: Mayeso monga X-ray amachitidwa kuti aone kukula kwa mafupa.

Kodi chimachiritsidwa bwanji?

Chithandizo cha McCune-Albright syndrome chimasiyana malinga ndi munthu. Palibe mankhwala a vutoli. Cholinga chachikulu cha chithandizo ndikuchepetsa ndikuwongolera zizindikiro.

Zotsatirazi zitha kuchitika ngati chithandizo:

• Mankhwala ochiza matenda otupa mafupa, monga bisphosphonates, amachepetsa chiopsezo cha kusweka kwa mafupa.
• Mankhwala oletsa kutha msinkhu msanga, mwachitsanzo, zoletsa za aromatase.
• Mankhwala a matenda a `hyperthyroidism`, mwachitsanzo `antithyroid`.
• Kuchiza thupi ndi chithandizo cha ntchito kulipo pa mavuto oyenda.
• Opaleshoni ya mavuto okulira mafupa, makamaka fibrous dysplasia.

Kodi ndingachepetse chiopsezo cha mwana wanga kudwala matendawa?

Monga tafotokozera kale, matenda a McCune-Albright amayamba chifukwa cha kusintha kwa majini. Chifukwa chake, palibe chomwe tingachite kuti tisawalepheretse.

Ngati mukuyembekezera mwana, ndi bwino kulankhula ndi dokotala wanu za upangiri wa majini kuti mudziwe ngati muli pachiwopsezo cha matenda ena a majini. Komabe, vuto ili, McCune-Albright syndrome, si chinthu chomwe chingapewedwe pasadakhale.

Ngati mwana wanga ali ndi vutoli, ndiyenera kuyembekezera chiyani?

Kuyembekeza kuti mwana wanu adzadwala matendawa kumadalira kuopsa kwa matendawa. Komabe, anthu ambiri amakhala moyo wabwinobwino. Gulu lanu lachipatala lidzakuthandizani kupeza chithandizo chabwino kwambiri chothandiza kuchepetsa zizindikiro za mwana wanu ndikuchepetsa kusasangalala kwake.

Mwana wanu akhoza kukhala wamfupi pang'ono kuposa ena a msinkhu wake chifukwa chakuti ma plate okulira amatseka msanga chifukwa cha kutha msinkhu. Komabe, ngati vutoli litapezeka ndi kuchiritsidwa msanga, pali mwayi waukulu kuti kusintha kwa kutha msinkhu kumeneku kungachedwe.

Ndikofunikira kwambiri kutsatira mfundo zofunika pakukula kwa mwana wanu kuti muwonetsetse kuti mwana wanu akukula bwino.

Pali chiopsezo chochepa kwambiri chotenga khansa chifukwa cha matendawa, choncho ndikofunikira kuti mwana wanu azipimidwa nthawi zonse ndi dokotala.

Makamaka, akazi omwe ali ndi vuto la McCune-Albright ali pachiwopsezo chachikulu chotenga khansa ya m'mawere ali aang'ono kuposa masiku onse, choncho ndikofunikira kulankhula ndi dokotala wanu za izi ndikupeza mayeso ofunikira.

Ndiyenera kupita kwa dokotala nthawi yanji?

Ngati mwana wanu akuwonetsa zizindikiro za McCune-Albright syndrome, pitani kwa dokotala. Mwachitsanzo:

• Kusakhazikika maganizo pafupipafupi, kuchita zinthu mopitirira muyeso, kukwiya mwadzidzidzi, komanso kusowa tulo (izi zitha kukhala zizindikiro za hyperthyroidism).
• Kusintha kwa mawonekedwe a mafupa chifukwa cha zovuta pakukula kwa mafupa.
• Kuyenda movutikira.
• Msambo umayamba ali wamng'ono kwambiri.
• Kupweteka kwambiri m'mafupa.

Zadzidzidzi! Ngati mukuganiza kuti mwana wanu wasweka fupa (monga kupweteka, kutupa, kulephera kuyenda kapena kunyamula kulemera, kuvulala), pitani kuchipatala mwamsanga.

Ndi mafunso ati omwe muyenera kufunsa dokotala?

Mukadziwa kuti mwana wanu ali ndi vutoli, zingakhale zothandiza kufunsa dokotala mafunso monga awa:

• Kodi mwana wanga amafunika mankhwala ochepetsa zizindikiro zake?
• Kodi mwana wanga adzafunika opaleshoni ya fibrous dysplasia?
• Kodi pali zotsatirapo zilizonse pa mankhwala omwe mwana wanga amapatsidwa kuti achepetse zizindikiro zake?

Kupeza kuti mwana wanu ali ndi vuto la majini losazolowereka kungakhale kovuta kwa makolo atsopano. Koma kumbukirani kuti kupeza matenda msanga ndi chithandizo kungathandize mwana wanu kuthana ndi zizindikirozo. Dokotala wanu angakulimbikitseninso kuti mukakumane ndi mlangizi wa majini, katswiri wa majini. Angakuthandizeni kumvetsetsa bwino matendawa ndikukupatsani chithandizo chamaganizo chomwe mukufuna. Angakutsogolereninso pa njira zomwe mungachite kuti muthandize mwana wanu kukhala ndi moyo wathanzi komanso wokhutiritsa.

Zinthu zofunika kuzikumbukira (Uthenga Wopita Nawo Kunyumba)

Matenda a McCune-Albright ndi matenda osowa, koma omwe amapezeka mwachibadwa.

• Izi zimakhudza mafupa, khungu, ndi dongosolo la mahomoni .
• Zizindikiro zazikulu ndi ``fibrous dysplasia`` (minofu yofiira m'mafupa), ``café-au-lait spots`` (mabala abulauni pakhungu), ndi kutha msinkhu msanga.
• Ichi si chinthu chochokera kwa makolo; ndi kusintha kwa majini kumene kukuchitika.
• Ngakhale kuti palibe mankhwala okwanira, pali mankhwala abwino oletsa zizindikiro.
• Kuzindikira matenda msanga ndi chithandizo, komanso kuyang'aniridwa ndi dokotala nthawi zonse, ndikofunikira kwambiri.
• Simuli nokha; funani thandizo kwa madokotala ndi alangizi a majini.

Ndikukhulupirira kuti izi zakuthandizani kumvetsetsa bwino vutoli. Kumbukirani, ngati muli ndi kukayikira kulikonse, musazengereze kulankhula ndi dokotala.

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