Matenda a Noonan ndi omwe amachititsa maonekedwe komanso mawonekedwe a thupi zomwe zimakhudza thupi lanu m'njira zosiyanasiyana. Odziwika ngati matenda osadziwika, akuganiza kuti vutoli limakhudza pafupifupi 1 mwa anthu 1000 mpaka 2500. Noonan Syndrome sichikugwirizana ndi malo enaake kapena mtundu uliwonse.
Ngakhale kuti matenda a Noonan siopseza moyo, ngati muli ndi matenda omwe mukudwala nawo, kuphatikizapo matenda a mtima, matenda a magazi komanso mitundu ina ya khansa panthawi ina. Matenda okhudzana ndi matendawa akuyembekezeredwa pogwirizana ndi matenda a Noonan Zotsatira zanu zidzakhala zabwino ngati mukukonza maulendo a zachipatala kuti muwone thanzi lanu ndikupeza chithandizo cha nthawi yake pazochitika zilizonse zachipatala zomwe zimabwera musanapangitse zotsatira zake.
Chizindikiro
Kuzindikira matenda a Noonan kumadalira pakuzindikira mawonetsero angapo owonetserako. Pangakhale kusiyana kwakukulu kwa matendawa, ndipo anthu ena akhoza kukhala ndi zochitika zooneka bwino kapena zowopsa kwambiri kuposa zina.
Ngati mukudziwa kale kuti muli ndi mamembala omwe ali ndi matenda a Noonan, izi zikhoza kukuchititsani kuona zizindikiro zosonyeza kuti inuyo kapena mwana wanu mungakhudzidwe.
Dokotala wanu ayenera kuti anazindikira kuphatikiza kwa ziwalo, zizindikiro ndi thanzi la matenda. Gawo lotsatira pambuyo pozindikira zizindikiro za vutoli ndipitirize kufufuza mozama ngati inu kapena mwana wanu muli ndi matenda a Noonan.
Zizindikiro
Matenda a Noonan amasonyeza zonse mkati ndi kunja kwa thupi, zomwe zimapangitsa kukhala ndi maonekedwe omwe amasonyeza makhalidwe, komanso mavuto a zachipatala omwe amachititsa vutoli.
- Maonekedwe a thupi: Maso ndi thupi la munthu amene ali ndi matenda a Noonan angaoneke ngati achilendo, kapena angawoneke ngati makhalidwe abwino. Mafotokozedwe odziwika bwino omwe ali ndi chikhalidwe ichi ndi kukula kwake kwa mutu, maso omwe ali osiyana, ndi ochepa kwambiri kuposa kutalika kwake.
- Mutu : Nkhope ndi mutu wa munthu amene ali ndi matenda a Noonan nthawi zambiri amadziwika kuti ndi amtundu wanji wamphongo chifukwa mphuno ndi yaikulu kwambiri kuposa nsagwada ndi chibwano.
- Maso : Maso amadziwika kuti akutsitsidwa pansi, nthawi zina ndi mawonekedwe omwe amawoneka akukulunga kuzungulira nkhope. Makopa angakhale obiriwira, opanga mapepala aakulu.
- Nkhoswe : Matenda a Noonan amathandizidwanso ndi khosi la nsalu, zomwe zikutanthauza kuti anthu omwe ali ndi vutoli akhoza kukhala ochuluka kwambiri kuposa khosi nthawi zonse ndi khungu lomwe limawonekera kukhala "webusaiti" pakati pa chifuwa ndi chifuwa.
- Kutupa : Anthu ena omwe ali ndi matenda a Noonan amatha kutupa thupi, mikono, miyendo kapena zala. Izi zafotokozedwa kwa ana komanso akuluakulu omwe ali ndi Noonan Syndrome ndipo amayamba ndi edema, yomwe ndikumanga madzi.
- Kufupika ndi zala zazing'ono: M'madera onse, anthu omwe ali ndi matenda a Noonan amapezeka kuti ndi achifupi kwambiri kuposa ena, ndipo akhoza kukhala ndi zala zazifupi. Ana omwe ali ndi vutoli nthawi zambiri sali ochepa kusiyana ndi nthawi yoberekera, koma amakula pang'onopang'ono pamene ali wakhanda, choncho kukula kwake kwaching'ono ndi chinthu chomwe chimayamba kuonekera kuyambira ali wakhanda kapena akadakali ana.
Ngakhale kuti matenda a Noonan amagwirizanitsidwa ndi mawonekedwe ena ndi thupi, koma pangakhale zosiyana siyana momwe ziwonetserozi zikuwonekera. Choncho mawonekedwe a nkhope ndi thupi sangathe kuzindikira ngati wina ali ndi matenda a Noonan kapena ayi.
Zizindikiro
Pali zizindikiro zambiri za matendawa, ndipo mwina sangakhudze aliyense amene ali ndi Noonan Syndrome.
- Kudya nkhawa : Ana ena omwe ali ndi matenda a Noonan sangadye komanso ana omwe ali a msinkhu womwewo, ndipo izi zingachititse kuti vuto likhale lolemera ndikuchedwa kukula.
- Matenda a mtima: Matenda ambiri omwe amadwala matenda a Noonan ndi vuto la mtima lotchedwa "valve" valve stenosis. Vutoli limasokoneza kuthamanga kwa magazi kuchokera pamtima mpaka m'mapapo, zomwe zimachititsa kuti zizindikiro monga kutopa, mpweya wochepa, kapena maonekedwe a buluu a milomo kapena zala. Pakapita kanthawi, anthu omwe ali ndi mpweya wotsekemera wosapsa mtima akhoza kukhala ndi mtima wofutukuka, womwe umayambitsa kutopa ndipo ungayambitse mavuto aakulu a mtima, monga kuperewera kwa mtima, pakapita nthawi. Palinso zofooka zina zomwe zimagwirizanitsidwa ndi matenda a Noonan komanso, kuphatikizapo hypertrophic obstructive cardiomyopathy , chilema cha malaria, ndi septal defect.
- Kudzudzula kapena Kutsekemera: Matenda a Noonan angayambitse vuto la kutseka magazi, lomwe limabweretsa kuvulaza kwambiri komanso kutuluka kwa magazi kwa nthawi yayitali pambuyo pa kuvulala.
- Masomphenya akusintha: Osachepera theka la ana omwe ali ndi matenda a Noonan amakumana ndi masomphenya ndi kuyendayenda kwa diso, monga diso laulesi kapena diso lopotoka.
- Mafupa ofooka: Ana ndi akuluakulu omwe ali ndi matenda a Noonan angakhale ndi vuto la mafupa ndi mphamvu ya mafupa, zomwe zimapangitsa mafupa osalimba omwe amatha mosavuta mosavuta kapena omwe angapangitse thupi, makamaka pachifuwa. Chitsanzo cha mafupa osadziwika omwe angathe kuchitika ndi matenda a Noonan ndi "dzenje" lakuya m'chifuwa. Sizomveka chifukwa chake izi zimachitika, ndipo sizikhudza aliyense amene ali ndi matenda a Noonan.
- Kukula msanga: Anyamata ndi atsikana omwe ali ndi matenda a Noonan amatha kuchedwa msinkhu. Anyamata ena asakanikirana ndi makoswe ndipo amatha kuchepetsa kubereka pambuyo pake.
- Kuchedwa kuchepetsa: Pali mgwirizano pakati pa mavuto a kuphunzira ndi matenda a Noonan, ngakhale kuti kugwirizana sikuli kolimba. Mwachidziwitso, zomwe zikuchitika panopa zokhudza chitukuko cha chidziwitso cha anthu omwe ali ndi matenda a Noonan zimasonyeza kuti ana omwe ali ndi vutoli amakhala ndi mwayi wapamwamba kuposa wopeza mwayi wophunzira, ngakhale kuti ndizofala kwa ana ndi akulu omwe ali ndi matenda a Noonan kuti akhale ndi nzeru zambiri luso-komanso pamwamba pa luso la nzeru lawonetsedwa.
Kudziwa
Umboni wosatsimikizika wa matenda a Noonan ndi mayeso obadwa ndi majini. Komabe, akuganiza kuti pakati pa 20 ndi 40 peresenti ya anthu amene amapezeka kuti ali ndi matenda a Noonan alibe mbiri ya banja la chikhalidwe kapena alibe zochitika zomwe zimawoneka ndi kuyesedwa kwa majini. Nthawi zina, mayesero ena ndi machitidwe angathandize kuthandizira.
- Mayeso a Laboratory: Kuyesedwa kwa magazi poyesa kugwira ntchito yotseka magazi kungakhale yachibadwa kapena yachilendo kwa anthu omwe ali ndi matenda a Noonan. Palibe mgwirizano wamphamvu pakati pa kuyezetsa magazi komwe kumayang'ana magazi kutsekemera ndi zizindikiro za kuvulaza kapena kutuluka magazi.
- Kuyesedwa kwa mtima: Kutulukira kwa matenda a m'magazi komanso matenda ena a mtima omwe amapezeka ndi matenda a Noonan angathandize kuchidziwitso cha matendawa. Komabe, zikhalidwe zonse za mtima zomwe zimagwirizanitsidwa ndi matendawa zikhoza kuchitika pazinthu zina; kudziwidwa kwa mtima umodzi sikutanthauza kuti matenda a Noonan, ndipo kusawa kwa mtima sikukutanthauza kuti munthu alibe matenda a Noonan.
- Kuyezetsa magazi: Pali majeremusi angapo omwe agwirizanitsidwa ndi matenda a Noonan, ndipo ngati majini awa amadziwika, makamaka pakati pa mamembala, izi zikhoza kukhala chitsimikiziro cha matenda.
Zimene muyenera kuyembekezera
Kukhala ndi moyo ndi matenda a Noonan mwachibadwa, koma pakhoza kukhala mavuto a umoyo omwe amayenera kuthandizidwa ndi mankhwala kapena opaleshoni.
- Kupuma kwa magazi kungayambitse kutaya magazi, zomwe zingayambitse zizindikiro za kutopa. Kawirikawiri, kutaya mwazi kwakukulu kungayambitse kuperewera kwa chidziwitso kapena kufunika kwadzidzidzi kuikidwa magazi.
- Matenda a mtima ndi zotsatira za thanzi la matenda a Noonan. Matenda a mtima angathe kukhumudwitsa mtima, choncho ndikofunikira kuti muzitsatira nthawi zonse ndi katswiri wa mtima ngati inu kapena mwana wanu muli ndi matenda a Noonan.
- Ngati muli ndi matenda a Noonan, pali mwayi wochuluka wa mitundu ina ya khansa, makamaka khansa ya magazi, monga ana aamuna a myomonomonicytic leukemia ndi neuroblastoma.
Chithandizo
Chithandizo cha matenda a Noonan chimagwiritsidwa ntchito pazinthu zingapo za matendawa.
- Kupewa mavuto aakulu a mtima: Kuyezetsa matenda ndi matenda oyambirira a msinkhu kungathandize kupewa zotsatira za thanzi la nthawi yaitali. Malingana ndi kuuma ndi mtundu wa mtima, mankhwala, opaleshoni kapena kuyang'anitsitsa kungakhale njira yabwino kwambiri kwa inu.
- Kuzindikira ndi kuchiza mavuto a zachipatala: Matenda a Noonan akugwirizanitsidwa ndi mavuto osiyanasiyana a zaumoyo kuyambira ku magazi kupita ku matenda a khansa. Pakadali pano, palibe mayeso omwe angadziwe ngati mungakonze vuto limodzi mwazovuta musanayambe kukhudza thupi. Kutseka chithandizo chamankhwala kumaphatikizapo maulendo afupipafupi omwe mwakonzekera kuchipatala kuti adokotala akhoze kuzindikira mavuto omwe akubwera chifukwa cha mbiri yanu ya zachipatala ndi zochitika zapadera pamene akuchiritsidwa.
- Kupititsa patsogolo kukula: Hormone ya kukula ikugwiritsidwa ntchito kwa ana ena omwe ali ndi Noonan Syndrome monga njira yomwe imalimbikitsa kukula, komwe kumathandiza kupeza kutalika kwa msinkhu ndi mawonekedwe a mafupa ndi mawonekedwe. Pamene kukula kwa hormone kwagwiritsidwa ntchito ngati njira yopambana kwa ana omwe ali ndi matenda a Noonan, mahomoni a kukula kwa hormoni komanso mahomoni ena si achilendo kwa anthu omwe ali ndi vutoli.
- Uphungu wa mafupa: Matendawa nthawi zambiri amakhala obadwa ndipo makolo ena angafunike kukhala ndi zambiri zokhudzana ndi chiopsezo cha matenda ena monga Noonan matenda pamene akukonzekera banja.
Zimayambitsa
Matenda a Noonan ndi ophatikiza maonekedwe ndi mavuto a umoyo omwe amachokera ku vuto la mapuloteni omwe amayamba chifukwa cha chibadwa chosabadwa.
Chibadwa chachibadwa chimasintha puloteni yomwe imakhudzidwa ndi kusintha kwa mlingo umene thupi limakula.
Mapuloteniwa makamaka amagwira ntchito mu RAS-MAPK (njira yamagetsi yotulutsira mapuloteni), yomwe ndi gawo lofunika kwambiri logawanika. Izi ndizofunikira chifukwa thupi la munthu limakula kupyolera mu kupatukana kwa maselo, komwe ndiko kupanga maselo atsopano a umunthu kuchokera ku maselo omwe alipo kale. Kusiyana kwa magulu kumabweretsa maselo awiri mmalo mwa chimodzi, chomwe chimapangitsa ziwalo za thupi kukula. Izi ndi zofunika makamaka pa ubwana ndi ubwana pamene munthu akukula kukula. Koma kupatukana kwa maselo kumapitirira moyo wonse monga kukonzanso thupi, kubwezeretsanso, ndi kubwezeretsanso. Izi zikutanthauza kuti mavuto ndi kupatulidwa kwa maselo angakhudze ziwalo zambiri thupi lonse. Ichi ndichifukwa chake matenda a Noonan ali ndi mawonetseredwe ambiri owonetsetsa komanso odzola.
Chifukwa cha matenda a Noonan amayamba chifukwa cha kusintha kwa RAS-MAPK, makamaka amatchedwa RASopathy. Pali zovuta zambiri za RASopathies, ndipo zonsezi ndizovuta kwambiri.
Chibadwa ndi Heredity
Matenda a Noonan amachititsa kuti thupi lisagwidwe. Izi zikutanthawuza kuti ma jini mu thupi omwe amalembera mapuloteni omwe amachititsa matenda a Noonan ali ndi code yolakwika, yomwe imatchedwa kusintha. Kusintha kwa thupi kumakhala kobadwa, koma kungakhale kosavuta, kutanthauza kuti kunachitika popanda kubadwa ndi kholo.
Zikuoneka kuti pali mitundu yosiyanasiyana ya ma gene yomwe imayambitsa matenda a Noonan. Zamoyo zimenezi ndi jini la PTPN11, jini la SOS1, jini RAF1, ndi jini la RIT1, okhala ndi vuto la jini la PTPN11 lomwe lili ndi pafupifupi 50 peresenti ya Noonan Syndrome. Ngati munthu adzalandira kapena kutulutsa zina mwazinthu zazing'ono 4 za jini, chiwerengero cha Noonan Syndrome chiyenera kuchitika.
Matendawa amatenga matenda monga autosomal disease, zomwe zikutanthauza kuti ngati kholo limodzi liri ndi matenda, ndiye kuti nayenso ali ndi matendawa. Izi zili choncho chifukwa cholowa cha kholo limodzi chimachititsa kuti pakhale mapuloteni a RAS-MAPK omwe sangathe kulipiritsa ngakhale munthu atalandira kachilombo koyambitsa mapuloteni.
Pali zochitika za Noonan Syndrome, zomwe zikutanthauza kuti chibadwa chosabadwa chikhoza kuchitika mwa mwana yemwe sanalandire chikhalidwe kuchokera kwa makolo. Munthu yemwe ali ndi matenda a Noonan amatha kukhala ndi mwana ali ndi vutoli chifukwa ana omwe ali ndi kachilomboka angathe kutenga chibadwa chatsopanochi.
Mawu Ochokera
Ngati inu kapena mwana wanu muli ndi matenda a Noonan, ndikofunika kuti mupitirize kukachezera ndi dokotala wanu ndikuphunzira momwe mungazindikire zizindikiro zomwe zikugwirizana. Anthu ena ndi mabanja omwe ali ndi matenda omwe sawoneka ngati Matenda a Noonan amathandizidwa kulumikizana ndi magulu othandizira ndi magulu othandizira, omwe angapereke zambiri zatsopano komanso zovuta kupeza zokhudzana ndi vutoli. Kuonjezerapo, mungafunse dokotala wanu za mayesero atsopano omwe mukuyesera kuti mukwanitse kuchita zatsopano ndikuchiyanjako nokha .
> Zotsatira:
> Tafazoli A, Eshraghi P, Koleti ZK, matenda a Abbaszadegan M. Noonan - kafukufuku watsopano, Arch Med Sci. 2017 Feb 1; 13 (1): 215-222. do: 10.5114 / aoms.2017.64720. Epub 2016 Dec 19.
> Jeong I, Kang E, Cho JH, Kim GH, Lee BH, Choi JH, Yoo HW. Kuchuluka kwa nthawi yaitali kwa mankhwala omwe amachititsa kuti anthu ambiri azidwala matenda a hormone, omwe amakhala ndifupipafupi omwe ali ndi matenda a Noonan, Ann Pediatr Endocrinol Metab. 2016 Mar; 21 (1): 26-30. do: 10.6065 / apem.2016.21.1.26. Epub 2016 Mar 31.