Noonan syndrome ndiyo mamiriro ezvinhu anoita kuti munhu ave nechimiro chechimiro chemuviri pamwe chete nekuchinja kwehupenyu kunobatsira muviri kwese nenzira dzakasiyana siyana. Yakarongerwa sechirwere chisingawanzozivi, inofungidzirwa kuti chiitiko ichi chinokanganisa anenge 1 kubva kune 1000 kusvika ku 2500 vanhu. Noonan Syndrome haisati yambobatanidzwa kune imwe nzvimbo yenharaunda kana dzinza.
Nepo chirwere cheNoonan hachisi kutyisa upenyu, kana iwe uine mamiriro ezvinhu iwe unogona kutarisana nezvirwere zvinosanganiswa, kusanganisira chirwere chemwoyo, zvirwere zvekubuda ropa uye dzimwe mhando dzekenza pane imwe nguva munguva yehupenyu hwako. Izvi zvinetso zveutano zvinotarisirwa mukubatana neNoonan syndrome Zvakaguma zvichava nani kana ukaronga kushanyira kurapwa kuti uongorore utano hwako uye kuwana rubatsiro rwakakodzera panguva ipi zvayo yezvehutano inomuka isati yatanga kukonzera migumisiro yakakomba.
Chiratidzo
Kuziva Noonan syndrome kunobva mukucherechedza kwezviratidzo zvakawanda zvinosanganiswa. Ikoko kunogona kuva nehutano muhutano hwechirwere, uye vamwe vanhu vangave vane zvimwe zvakajeka zvemuviri kana kuti humwe hutano hwehutano hunopfuura humwe.
Kana uchitoziva kuti iwe une nhengo dzemhuri dzave dzakaonekwa kuti dzine chirwere cheNoonan, izvi zvingadaro zvakaita kuti uone zviratidzo zvinoratidza kuti iwe kana mwana wako unogona kuchinjwa.
Chiremba wako angangodaro akaziva kusanganiswa kwezvinhu zvomuviri, zviratidzo uye hutano zvimwe zveurwere. Nhanho inotevera mushure mekuziva zviratidzo zvechiitiko ndechokupfuurira mberi nekuongorora kana iwe kana mwana wako ane Noonan syndrome.
Mamiriro
Noonan syndrome inoratidzira mukati uye kunze kwemuviri, zvichiita kuti chitarisiko chinoratidza chimiro chechimiro chechiitiko chacho, pamwe chete nezvinetso zvezvehutano zvinokonzerwa nemamiriro acho ezvinhu.
- Kuoneka kwepanyama: Zviso zvemuviri uye zvemuviri zveumwe munhu ane Noonan syndrome zvingaita sechinhu chisina kujairika, kana kuti zvingaita sechimiro chaiwo chepanyama. Tsanangudzo dzakajeka dzepanyama dzinobatanidza nehutachiwana hukuru hunopfuura hukuru hwemusoro, maziso ari akaparadzana, uye ane shoma shoma kudarika urefu hwehurefu.
- Musoro : Chiso uye musoro wemunhu anogara neanaonan syndrome inowanzotsanangurwa sechimiro chepamusoro-soro nokuti bhudzi rakakura zvakakura kudarika mutsara nechidiki.
- Maziso : Maziso anoonekwa kuti akaiswa pasi, dzimwe nguva ane maitiro anoita sokuti akaputira kumativi echiso. Maziso anokwanisa kunge akareba, achiita mapafu akadzika.
- Neck : Syndrome yaNoonan inobatanidzawo nehuro yebvudzi, izvo zvinoreva kuti vanhu vanobatwa nemamiriro ezvinhu aya vanogona kunge vakanyanya kudarika kupfuura mutsipa wenguva dzose nehweganda rinenge rakaita se "web" pakati pebhokisi nepamusoro.
- Kuzvimba : Vamwe vanhu vane Noonan syndrome vanogona kukurira muviri, maoko, makumbo kana minwe. Izvi zvakatsanangurwa mucheche pamwe chete nevakuru vane Noonan Syndrome uye inokonzerwa neodema, iyo inovaka-up ye fluid.
- Mhedziso refu neminwe: Munharaunda, vanhu vane Noonan syndrome vanowanikwa kuva shoma kudarika zviyero, uye vanogona kunge vane zvigunwe zviduku. Vana vane chirwere ichi havasi vaduku kudarika kuwandisa pakuberekwa, asi kukura zvishoma pamucheche mucheche, uye naizvozvo kupfupika kwechinhu chinhu chinotanga kuonekwa pahucheche kana paudiki.
Kunyange zvazvo chirwere cheNoonan chinowanzobatanidzwa nehumwe hutarisiko hunhu uye muviri wechiratidzo, asi kune huwandu hwakawanda hwokuti zvinhu izvi zvinooneka sei. Saka kuonekwa kwomuviri uye mumuviri hakugone kutendeseka kana mumwe munhu ane Noonan syndrome kana kwete.
Zviratidzo
Pane zviratidzo zvakawanda zvechiitiko ichi, uye zvinogona kana kuti hazvigoni kuchinja munhu wose ane Noonan Syndrome.
- Dambudziko rekudya : Vamwe vana vane Noonan syndrome vangarega kudya pamwe chete navana vakaberekwa vezera rimwe chete, uye izvi zvinogona kuita kuti dambudziko riwedzere kukurumidza uye kunonoka kukura.
- Matambudziko emwoyo: Chirwere chinonyanya kukosha chinosangana neNoonan syndrome chinetso chemoyo chinonzi pulmonary valve stenosis. Dambudziko iri rinopesana neropa ruchibva pamwoyo kusvika kumapapu, zvichiita kuti zviratidzo zvakadai sokuneta, kupererwa kwemhepo, kana kuonekwa kwebhuruu kwemiromo kana minwe. Mushure mechinguva, vanhu vasina kupomerwa maperembudzi valve stenosis vangava nemoyo wakakura, izvo zvinokonzera kuneta uye zvinogona kukonzera zvinetso zvemoyo, zvakadai sekushaya mwoyo, sezvenguva inopfuurira. Pane zvimwe zvikanganiso zvemoyo zvinosanganiswa neNoonan syndrome zvakare, kusanganisira hypertrophic obstructive cardiomyopathy , atrial septal defect, uye ventricular septal defect.
- Kuvhiringidza kana Kudhonza: Noonan syndrome inogona kukonzera zvinetso zvekuvhara ropa, izvo zvinoguma nokupwanya zvakanyanya uye kubuda ropa kwenguva yakareba kudarika nguva yakareba mushure mekukuvara.
- Chiratidzo chekuchinja: Inenge hafu yevana vane Noonan syndrome vane zvinetso nekuona uye kufamba kweziso, zvakadai seziso rakasviba kana ziso rakatsauka.
- Mapfupa asina simba: Vana nevakuru vane Noonan syndrome vanogona kuva nezvinetso nefupa mapfupa uye bone simba, zvichiguma nemapfupa asina simba anokwanisa kupfurikidza nyore nyore kudarika kana kuti angaita kuti chimiro chisina kujairika, kunyanya chechifu. Muenzaniso weusingazivikanwi mapfupa akanganisa anogona kuitika neNoonan syndrome ndiyo "gomba" rakadzika mubhokisi repamusoro. Hazvisi pachena nei izvi zvichiitika, uye hazvina kukanganisa munhu wose ane Noonan syndrome.
- Kuita zvekuita zvepabonde: Vakomana nevanasikana vane chirwere cheNoonan vangaona vakanonoka kumakore. Vamwe vakomana havana kukanganisa mawere uye vanogona kunge vakaderedza kubereka munguva pfupi muupenyu.
- Kudzidza kunonoka: Kune sangano pakati pekusawirirana kwekudzidza uye Noonan syndrome, kunyange hukama husina simba. Nenzira yakawanda, ruzivo rwemazuva ano nezvekugutsikana kwekufunga kwevanhu vane Noonan syndrome inoratidza kuti vana vane mamiriro ezvinhu vane akakwirira kudarika mukana wepakati wekushaya ruzivo rwekudzidza, kunyange zvazvo zvakajairika kuvana nevakuru vane Noonan syndrome kuti vave nepakati pevashandi unyanzvi-uye pamusoro pekukwanisa kwouchenjeri kwakaratidzwa zvakare.
Kuziva
Uchapupu hwakanyanya kunyatsojeka hweHanaonan syndrome inonzi genetic test. Zvisinei, inofungidzirwa kuti pakati pe20 kusvika ku40 kubva muzana yevanhu vanoonekwa kuti vane Noonan syndrome havana mamiriro emhuri yemamiriro ezvinhu kana kuti havana chimiro chisina kunaka chinowanikwa neruzivo rwekuberekwa. Dzimwe nguva, mamwe maedzo nekucherechedza zvinogona kutsigira kuongororwa.
- Kuongororwa kwebhizinesi: Kuyera ropa kuongorora ropa-clotting basa kunogona kuva yakasviba kana kusina kukwana kune vanhu vane Noonan syndrome. Hapana kuwirirana kwakasimba pakati pekuongorora ropa kunoongorora kuvhara ropa uye zviratidzo zvekupwanya kana kubuda ropa.
- Heart function tests: Kugadziriswa kwepemmonary hypertension pamwe chete nemamwe kukanganisa kwemwoyo kunosangana neNoonan syndrome kunogona kutsigira kuongororwa kwechiitiko ichi. Zvisinei, yose yemwoyo mamiriro ezvinhu anosangana nechirwere ichi inogona kuitika mune mamwe mamirirowo zvakare; Kuzivikanwa kwemweya wemamiriro ezvinhu hakusi kusimbisa Noonan syndrome, uye kusavapo kwenhamo yemwoyo hakurevi kuti munhu haana Noonan syndrome.
- Kuenzanisa kwemaGenetic: Kune majini mazhinji akabatanidzwa neNoonan syndrome, uye kana mazamu aya akaonekwa, kunyanya pakati pemhuri, izvi zvinogona kuva kugadziriswa kwechirwere chechirwere.
Zvaunotarisira
Hupenyu hunotarisirwa neNoonan syndrome inowanzojairika, asi pangangodaro kune matambudziko ehutano anoda kutarirwe nehutano kana kurapwa.
- Kushambadzira kunogona kukonzera kurasikirwa neropa, izvo zvinogona kukonzera zviratidzo zvekuneta. Pashoma, kubuda ropa kunogona kukonzera kurasikirwa kwekuziva kana kukurumidza kudiwa kwekuwedzerwa ropa.
- Chirwere chepfungwa ndicho chinowanzoita utano hweNoonan syndrome. Chirwere chepfungwa chinogona kukonzera kukanganisa kwemwoyo, saka zvinokosha kuti urambe uine chiitiko chekutevera nemoyo we cardiologist kana iwe kana mwana wako ane Noonan syndrome.
- Kana uine Noonan syndrome, pane mukana wakawedzerwa wemamwe marudzi ekenza, kunyanya kanzira dzeropa, dzakadai sevana vechidiki myelomonocytic leukemia neuroblastoma.
Kurapa
Kurapa kweNoonan syndrome kunowedzera kune zvimwe zvikamu zvechirwere.
- Kuchengetedza zvinetso zvakakomba zvepfungwa: Kutanga kuongorora uye kutarisa kwematambudziko emwoyo kunogona kudzivirira migumisiro yehutano kwenguva refu. Zvichienderana nekuoma uye rudzi rwemamiriro emwoyo, mishonga, kuvhiyiwa kana kutarisa zvakanyanya kungave ndiyo yakanakisisa iyo iwe.
- Kuziva uye kurapa zvinetso zvezvechiremba: Noonan syndrome inobatanidza noutano hwakasiyana-siyana hwehutano hunobva pakubuda ropa kusvika pakushaya chirwere chekenza. Kusvika ikozvino, hapana chiyero chinogona kufanotaura kana iwe uchakurira chimwe chezvinetso izvi zvisati zvatanga kuchinja muviri. Kuchengetedzwa kwechiremba kwakanyanyisa kunosanganisira nguva dzese dzakarongerwa kurapwa kwechiremba kuitira kuti chiremba wako aone zvinetso zvinotanga kuburikidza kuburikidza nenhoroondo yako yezvechiremba uye miedzo yepanyama pavanenge vachiri kurapa.
- Kukurudzira kukura kwakanyanya: Kukura kwehomoni kwave kushandiswa mune vamwe vana vane Noonan Syndrome senzira inokurudzira kukura, iyo inobatsira pakuwana zvakakwana urefu uye bone maitiro uye chimiro. Kunyange zvazvo kukura kwehomoni kwave kushandiswa senzira inobudirira yevana vane Noonan syndrome, mazinga ekukura kwehomoni pamwe nemamwe mahomoni haasi asina kujairika kune vanhu vane chirwere ichi.
- Kupa mazano ekugadzirisa: Izvi zvinowanzova nhaka uye vamwe vabereki vangada kuva nehuwandu hwemashoko ehutano pamusoro pehutano hwehumwe zvirwere zvakadai seNoonan syndrome pakuronga mhuri.
Zvinokonzera
Noonan syndrome inosanganiswa nemamiriro ezvinhu ehutano uye matambudziko ehutano akavakirwa muhutachiona hwepuroteni hunowanzokonzerwa nehutachiona husina kunaka.
Chimiro chemaitiro anoshandura chinoshandura puroteni inobatanidzwa mukugadzirisa chiyero icho muviri unowedzera.
Iyi proteiniti inonyanya kushanda muRAS-MAPK (mitogen-activated protein kinase) chiratidzo chekutsinhanisa, iyo iyo chikamu chinokosha chekuparadzana kwema cell. Izvi zvakakosha nokuti muviri wemunhu unokura kuburikidza nekushandiswa kwemajeri ekuparadzanisa, ndiko kubudiswa kwemasero matsva evanhu kubva kune masero aripo. Sangano rinoparadzaniswa zvinokonzera masero maviri pane rimwe, rinoita kuti zvikamu zvemuviri zvikure. Izvi zvinonyanya kukosha pamucheche uye pauduku kana munhu ari kukura muhukuru. Asi kupatsana kwemasero kunopfuurira muhupenyu hwose sekugadziriswa kwemuviri, kugadzirisa, nekudzokorora. Izvi zvinoreva kuti matambudziko nekamuri kupatsanurwa kunogona kukanganisa nhengo dzakawanda mumuviri wose. Ichi ndicho chikonzero Noonan syndrome ine zvakawanda zvakabatanidzwa uye zvigadziro zvinoratidzika.
Nemhaka yokuti chirwere cheNoonan chinokonzerwa nekuchinjwa muRAS-MAPK, inonyanya kunzi RASopathy. Kune dzakawanda RASopathies, uye zvose zvinowanzosangana nezvinetso zvisingawanzoitiki.
Genesisi uye Heredity
Puroteni kusagadzikana kweNoonan syndrome kunokonzerwa nehutachiona hunokanganisa. Izvi zvinoreva kuti mazamu ari mumuviri anonyora mapuroteni anokonzerwa neNoonan syndrome ane kondomu isina kururama, inowanzonzi shanduko. Kushandurudza kunowanzova nhaka, asi kunogona kunge kuripo, zvichireva kuti zvakaitika pasina nhaka kubva kumubereki.
Icho chinotarisa kuti pane maina mana akasiyana siyana ane maitiro asina kukanganisa anogona kukonzera Noonan syndrome. Aya mazamu ndiwo PTPN11 geni, gweta reSOS1, RAF1 gene, uye RIT1 geni, ane zvikanganiso zvePTPN11 geni rinosvika 50% yezviitiko zveNoonan Syndrome. Kana munhu akagara nhaka kana kuwedzera chero ipi zvayo yezvisikwa zvipenyu zvisiri izvo, Noonan Syndrome inotarisirwa kuitika.
Mamiriro acho akagara nhaka sechirwere chinotyisa, izvo zvinoreva kuti kana mumwe mubereki ane chirwere, mwana wacho achavawo nechirwere ichi. Izvi ndechokuti nhaka yeiyiiyo maitiro asina kufanana kubva kune mumwe mubereki inokonzera kukanganisa muRAS-MAPK chibereko chekuita izvo zvisingakwanisi kubhadharwa kunyange kana munhuwo zvake akawana geni rezvakagadzirwa zvepuroteni.
Kune zviitiko zveNononan Syndrome, izvo zvinoreva kuti maitiro asina kufanira anogona kubuda mumwana asina kumbogara nhaka yemamiriro kubva kuvabereki. Munhu ane chirwere cheNononan chisinganzwisisiki angave ane mwana ane chirwere nokuti vana vemunhu akaremara vanogona kugara nhaka yekusagadzikana kwemashoko matsva.
Shoko Rinobva
Kana iwe kana mwana wako ane Noonan syndrome, zvinokosha kuti urambe uchishanyira chiremba wako uye kuti udzidze kuziva zviratidzo zvinosanganiswa. Vamwe vanhu nemhuri dzine zvirwere zvisingawaniki zvakadai seNoonan syndrome zvinowanzobatsira kubatana nemapoka ekutsigira uye mapoka ekutsigira, avo vanogona kupa ruzivo rwakatsvaga uye zvakaoma kuwana ruzivo pamusoro pemamiriro acho ezvinhu. Uyezve, unogona kuda kubvunza chiremba wako nezvekuedza kwekuedza kwekupedzisira kuitira kuti iwe ugone kuramba uchishandura pane zvitsva zvitsva uye zvichida unobatanidzwa mukuzvitsvakurudza iwe pachako .
> Sources:
> Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M. Noonan syndrome - mutsva mutsva, Arch Med Sci. 2017 Feb 1; 13 (1): 215-222. doi: 10.5114 / aoms.2017.64720. Epub 2016 Dec 19.
> Jeong I, Kang E, Cho JH, Kim GH, Lee BH, Choi JH, Yoo HW. Nguva yakareba yekubudirira kwekugadziriswa kwevanhu kuwedzera hormone therapy mune varwere vashoma-vakachema vane Noonan syndrome, Ann Pediatr Endocrinol Metab. 2016 Mar; 21 (1): 26-30. doi: 10.6065 / apem.2016.21.1.26. Epub 2016 Mar 31.