Noonan Syndrome Ndiyo Chii? Zviratidzo, Zvinokonzera, Uye Kurapwa

Noonan syndrome chirwere chemagene chinoita kuti muviri wako ubude sei usati wazvarwa uye pashure pekuberekwa. Inoitika kana paine shanduko mumwe wemigene yako inobatsira kudzora kukura kwemasero nekuvandudzika.

Chirwere ichi chinokanganisa zvikamu zvakawanda zvemuviri, kubva kumeso kusvika kumwoyo kusvika pakukura. Kunyange zvazvo ichikanganisa munhu wese zvakasiyana, vanhu vakawanda vane Noonan syndrome vanogona kurarama hupenyu hwazvo hwese, hwakanaka nekuchengetedzwa kwemishonga nekuyambuka.

Noonan syndrome ndeyei?

Noonan syndrome chirwere chemagene chaunozvarwa nacho. Inokanganisa vanhu vangangosvika 1 mu1,000 kusvika ku1 mu2,500 pasi rose, zvichiita kuti ive imwe yezvirwere zvemagene zvakajairika.

Chirwere ichi chinonzi zita raDr. Jacqueline Noonan, uyo akatanga kurondedzera zviratidzo muna 1963. Chinhu chinoita kuti syndrome iyi ive yakasiyana ndekuti inogona kukanganisa masisitimu akawanda emuviri panguva imwe chete, kunyange zvazvo kuomarara kwacho kuchisiyana zvikuru kubva kumunhu kuenda kumunhu.

Vamwe vanhu vane zviratidzo zvishoma zvingasatomboonekwi kusvika pakuva vakuru. Vamwe vangave nezvimiro zvinonyanya kuoneka nezvinetso zvehutano zvinoda kutarisirwa kwemishonga nguva dzose muhupenyu hwavo hwese.

Zviratidzo zveNoonan syndrome ndizvipi?

Zviratidzo zveNoonan syndrome zvinogona kusiyana zvikuru, kunyangwe mumhuri imwe chete. Zvimwe zvinhu zvakajairika kupfuura zvimwe, uye kwete munhu wese achava nezviratidzo zvese zvinobvira.

Aya ndiwo maratidzo akajairika aunogona kuona:

• Zvimiro zvakasiyana zvekumeso senge maziso akaparadzana, nzeve dzakaderera, kana kumeso kukuru
• Kurema kwakaderera kana kukura kwakaderera kupfuura zvaitarisirwa
• Matambudziko emwoyo, kunyanya nechimiro chemwoyo kana rhythm
• Kusiyana kwechimiro chechipfuva, sekunge chipfuva chakadzika kana chakabuda
• Kunetseka kwekuvandudzika pakusvika pakukura senge kufamba kana kutaura
• Matambudziko ekudzidza, kunyange zvazvo hungwaru hunowanzova hwakanaka
• Kubuda ropa kana kuvhunduka nyore nyore
• Matambudziko etsinga kana mamwe matambudziko emukati

Zvimiro zvekumeso kazhinji zvinova zvishoma nezera. Vana vakawanda vane Noonan syndrome vanobudirira zvimiro zvinobatsira madokota kuziva chirwere ichi, asi hunhu uhwu hungave husina kuoneka muvakuru.

Vamwe vanhu vanonzwawo zviratidzo zvisingawanzoitika. Izvi zvinogona kusanganisira kurasikirwa kunzwa, matambudziko ekufunga, kana matambudziko ekudonha kwe lymph system inogona kukonzera kuzvimba. Kunyange zvazvo izvi zvinetso zvisingawanzoitika, zvinokosha kuzvitarisa uye kutaura nedare rako rehutano.

Chii chinokonzera Noonan syndrome?

Noonan syndrome inoitika nekuda kwekuchinja kwemigene chaiyo inodzora kukura kwemasero ako nekuvandudzika. Migene iyi yakaita sebhuku remirayiridzo rinoudza muviri wako kuti uite sei zvakakwana.

Gene yakajairika inobatanidzwa inonzi PTPN11, iyo inosanganisira anenge hafu yezviitiko zvese. Mamwe magene anogona kukonzera Noonan syndrome anosanganisira SOS1, RAF1, KRAS, nemamwe akawanda asainzi akawana munguva pfupi yapfuura.

Unogona kuriritira Noonan syndrome kubva kumubereki ane chirwere ichi, asi izvi zvinoitika chete hafu yenguva. Muhafu yekumwe yezviitiko, shanduko yemagene inoitika kekutanga munhu iyeye, zvinoreva kuti hapana mubereki ane chirwere ichi.

Kana mubereki ane Noonan syndrome, pane mukana we50% wekuipasa kumwana mumwe nemumwe. Izvi zvinonzi autosomal dominant inheritance, zvinoreva kuti unongoda kopi imwe chete yegene yakachinja kuti uve nechirwere ichi.

Rini unofanira kuona chiremba nezve Noonan syndrome?

Unofanira kufunga nezvekukurukura nemunhu ane hutano kana ukaona zvimiro zvakawanda zvinogona kuratidza Noonan syndrome. Kuziva kare kunogona kubatsira kuve nechokwadi chekuchengetedzwa kwemishonga nekutsigirwa.

Muvana vaduku nevana, tarisa zviratidzo senge zvimiro zvisina kujairika zvekumeso pamwe nekuoma kudya, kukura kwakaderera, kana kuchema kwemwoyo. Kunetseka kwekuvandudzika pakusvika pakukura senge kugara, kufamba, kana kutaura zvinokoshawo kutaura nachiremba wako wevana.

Kune vana vakuru nevakuru, kurema kwenguva refu, matambudziko ekudzidza, kana matambudziko ekubuda ropa asinganzwisisiki anogona kuita kuti uongororwe. Kuchema kwemwoyo, kurwadziwa muchipfuva, kana kuneta kwasinganzwisisiki kunogona kuratidza matambudziko emwoyo anoda kutarisirwa.

Kana uine nhoroondo yemhuri yeNoonan syndrome uye uri kuronga pamuviri, mazano emagene anogona kukubatsira kunzwisisa njodzi nezvinhu zviripo kwauri.

Zvinhu zvinokonzera njodzi yeNoonan syndrome ndizvipi?

Chinhu chikuru chinokonzera njodzi yeNoonan syndrome ndechekuva nemubereki ane chirwere ichi. Sezvo ichitevera muenzaniso we autosomal dominant, mwana mumwe nemumwe ane mukana we50% wekuriritira shanduko yemagene.

Zera rakakura revabereki rinogona kuwedzera zvishoma njodzi yekuchinja kwemagene matsva kuitika, asi Noonan syndrome inogona kuitika mumhuri yezera ripi neripi. Chirwere ichi chinokanganisa varume nevakadzi zvakafanana uye chinoitika mumapoka ese emarudzi.

Kana uine vamwe vemhuri vane kunetseka kwekuvandudzika kwasinganzwisisiki, matambudziko emwoyo, kana zvimiro zvekumeso zvisina kujairika, izvi zvinogona kuratidza mukana mukuru wezvirwere zvemagene mumutsara wemhuri yako.

Zvinetso zvinobvira zveNoonan syndrome ndizvipi?

Kunyangwe vanhu vakawanda vane Noonan syndrome vachirarama hupenyu hunogara, zvimwe zvinetso zvinogona kuitika zvinoda kutarisirwa kwemishonga. Kunzwisisa mikana iyi kunokubatsira kugadzirira uye kutsvaka kurapwa kana zvichidikanwa.

Matambudziko emwoyo ari pakati pezvinetso zvinogona kuitika zvakakomba. Izvi zvinogona kusanganisira zvikanganiso zvechimiro senge pulmonary valve stenosis, iyo inoita kuti mwoyo ushande zvakanyanya kupomba ropa kumapfupa. Vamwe vanhu vanobudirira hypertrophic cardiomyopathy, uko tsandanyama yemwoyo inova yakakura kupfuura zvakajairika.

Matambudziko ekukura nekuvandudzika anogona kukanganisa kukura kwemuviri nepfungwa. Kuderera kwakaderera kwakajairika, uye vamwe vana vanobatsirwa nekurapwa kwe growth hormone. Matambudziko ekudzidza, kunyange zvazvo kazhinji ari mashoma, anogona kuda rutsigiro rwekudzidzisa.

Matambudziko eropa ne lymphatic system anogona kukonzera matambudzikowo. Vamwe vanhu vane matambudziko ekubuda ropa anovavhundutsa nyore nyore kana kubuda ropa kwenguva refu kupfuura zvakajairika mushure mekuzvidzwa. Matambudziko e lymphatic anogona kukonzera kuzvimba muzvikamu zvakasiyana zvemuviri.

Zvinetso zvisingawanzoitika asi zvinokosha zvinosanganisira matambudziko etsinga, kurasikirwa kunzwa, matambudziko ekufunga, uye zvikanganiso zvemapfupa. Kunyange zvazvo izvi zvinonzwa zvichitya, yeuka kuti kwete munhu wese anonzwa zvinetso, uye mazhinji acho anogona kutarisirwa zvakakwana nekurapwa kwemishonga kwakakodzera.

Noonan syndrome inozwiwa sei?

Kuziva Noonan syndrome kunosanganisira kutarisa zvimiro zvemuviri, nhoroondo yemishonga, uye bvunzo yemagene. Hapana bvunzo imwe chete inogona kuziva chirwere ichi zvakajeka, saka madokota anoshandisa nzira dzakasiyana-siyana.

Chiremba wako achatanga nekutarisa hunhu hwemuviri uye kubvunza nezvezviratidzo. Vachatarisa zvimiro zvakasiyana zvekumeso, vachatarisa matambudziko emwoyo, uye vachiongorora zviratidzo zvekukura. Nhoroondo yakakwana yemhuri inobatsira kuziva kana chirwere ichi chingave chiri mumhuri yako.

Genetic testing inogona kusimbisa chirwere ichi nekutsvaga kuchinja kwemigene inozivikanwa kukonzera Noonan syndrome. Zvisinei, bvunzo dzazvino dzinongogona kuziva chikonzero chemagene muvanhu vangangosvika 70-80% vane chirwere ichi, zvinoreva kuti vamwe vanhu vane Noonan syndrome kunyange nemigumisiro yebvunzo yemagene yakajairika.

Bvunzo dzimwe dzinosanganisira kuongororwa kwemwoyo senge echocardiograms, kuongororwa kukura, bvunzo yeropa yekutarisa matambudziko ekubuda ropa, uye kuongororwa kwekuvandudzika kwekuongorora hunyanzvi hwekudzidza nehufambiro.

Kurapwa kweNoonan syndrome ndekupi?

Kurapwa kweNoonan syndrome kunotarisa pakutarisira zviratidzo zvakakosha uye kudzivirira zvinetso. Sezvo chirwere ichi chikanganisa vanhu zvakasiyana, chirongwa chako chekurapwa chichagadzirirwa zvinodiwa zvako.

Matambudziko emwoyo kazhinji anoda kutarisirwa nekukurumidza. Zvichienderana nechirwere chaicho, kurapwa kunogona kusanganisira mishonga, kugadzirisa kwekuvhiya kwezvinetso zvechimiro, kana kuongororwa nguva dzose nachiremba wemwoyo. Matambudziko mazhinji emwoyo anobatanidzwa neNoonan syndrome anogona kurapwa zvakabudirira.

Growth hormone therapy inogona kubatsira vana vane kurema kwakaderera kupfuura zvaitarisirwa. Kurapwa uku kunosanganisira jekiseni nguva dzose uye kunoda kuongororwa nguva dzose nachiremba we endocrinologist. Kwete mwana wese ane Noonan syndrome anoda growth hormone, asi inogona kubatsira kwazvo kune avo vanoita.

Rutsigiro rwekudzidzisa runotarisa matambudziko ekudzidza kana aitika. Izvi zvinogona kusanganisira kurapwa kwekutaura, kurapwa kwemabasa, kana mabasa ekudzidzisa chaiwo. Vana vakawanda vane Noonan syndrome vane hungwaru hwakanaka uye vanogona kubudirira mune zvechikoro nerutsigiro rwakakodzera.

Kurapwa kwakawanda kunotsamira pazviratidzo zviripo. Matambudziko ekubuda ropa anogona kuda mishonga kana kuchengetedzwa panguva yekuvhiya. Matambudziko ekunzwa kana ekufunga anoda kuongororwa nevanachiremba chaiwo. Kurapwa kwemuviri kunogona kubatsira nekuoma kwetsandanyama kana matambudziko ekurongeka.

Maitiro ekutarisira Noonan syndrome kumba?

Kutarisira Noonan syndrome kumba kunosanganisira kugara wakarongeka nekurapwa kwemishonga uye kutsigira hutano hwako hwese nekuvandudzika. Kugadzira tsika inosangana nezvinodiwa zvako kunoitwa hupenyu hwezuva nezuva zviri nyore.

Chengeta rekodhi yakakwana yezvikwata zve mishonga, migumisiro yebvunzo, nemishonga. Ruzivo urwu runova runokosha pakushanya kune madokota matsva kana panguva yekukurumidzira. Mhuri dzakawanda dzinowana zvinobatsira kuchengeta pfupiso yemishonga iyo vanogona kugovera nyore nyore nevanopa hutano.

Tarisa pane zvokudya nekutamba kwakakodzera mamiriro ako. Vamwe vanhu vane Noonan syndrome vane matambudziko ekudya kana zvinodiwa zvechikafu chaicho. Shanda nedare rako rehutano kugadzira nzira dzekudya dzinotsigira kukura kwakanaka nekuvandudzika.

Gara wakangwarira nezviratidzo zvinogona kuda kutarisirwa kwemishonga, senge kuneta kwasinganzwisisiki, kurwadziwa muchipfuva, kuvhunduka kwakanyanya, kana kunetseka kwekuvandudzika kwatsva. Kuva nechirongwa chekuti ungabata sei madokota ako kunokubatsira kupindura nekukurumidza kune matambudziko anogona kuitika.

Batanidza nemapoka ekutsigira nezvinhu zvemihuri inokanganiswa neNoonan syndrome. Kugovana zvakaitika nevamwe vanonzwisisa chirwere ichi kunogona kupa mazano anobatsira uye rutsigiro rwepfungwa.

Ungagadzirira sei chirongwa chako chekuona chiremba?

Kugadzirira zvikwata zve mishonga kunokubatsira kuita zvakanyanya nguva yako nevanopa hutano. Kugadzirira kwakanaka kunovimbisa kuti nyaya dzakakosha dzinotaurwa uye mibvunzo inopindurwa.

Nyora zviratidzo zvako zvese kana zvinetso usati wasvika pachikwata, kusanganisira pavakatanga uye maitiro avanokanganisa mabasa ezuva nezuva. Uya nerondedzero yemishonga yese, zvinowedzerwa, uye kurapwa kuri kushandiswa iye zvino.

Unganidza rekodhi dzemishonga dzakakodzera, kunyanya kana uri kuona chiremba mutsva. Sanganisira migumisiro yebvunzo yapfuura, mashumo ekuvhiya, uye pfupiso kubva kune vamwe vanachiremba. Mifananidzo inoratidza kuchinja kwenguva inogona kubatsira zvikuru nezvirwere zvemagene.

Gadzira mibvunzo nezvechirwere chako, sarudzo dzekurapwa, uye zvaunofanira kutarisira kuenda mberi. Bvunza nezvekuchinja mararamiro kunogona kubatsira uye kana iwe unofanirwa kuronga zvikwata zvekuongorora.

Chii chinonyanya kukosha nezve Noonan syndrome?

Noonan syndrome chirwere chemagene chinogona kutarisirwa chinokanganisa munhu wese zvakasiyana. Kunyange zvazvo ichigona kusanganisira masisitimu akawanda emuviri, vanhu vakawanda vane Noonan syndrome vanogona kurarama hupenyu hwazvo hwese, hunogadzira nerutsigiro rwakakodzera rwemishonga nekutsigirwa.

Kuziva kare nekurapwa kwemishonga kwakabatana kunoita musiyano mukuru mumigumisiro. Kushanda nechikwata chevanachiremba vanonzwisisa chirwere ichi kunobatsira kutarisira zviratidzo zvakakosha sezvazvinoitika uye kudzivirira zvinetso kana zvichibvira.

Yeuka kuti kuva neNoonan syndrome hakusi kusimbisa miganho yako. Vanhu vakawanda vane chirwere ichi vanobudirira kuchikoro, mabasa, hukama, nezvikamu zvese zvehupenyu. Chinhu chikuru ndechekuwana rutsigiro rwakakodzera uye kugara uchishanda nezvinodiwa nehutano hwako.

Mibvunzo inowanzo bvunzwa nezve Noonan syndrome

Q1: Noonan syndrome inogona kurapwa here?

Parizvino, hapana mushonga weNoonan syndrome sezvo yakakonzerwa nekuchinja kwemagene kuripo kubva pakuberekwa. Zvisinei, zviratidzo zvakawanda nezvinetso zvinogona kurapwa kana kutarisirwa zvakakwana. Nekuchengetedzwa kwemishonga kwakakodzera, vanhu vakawanda vane Noonan syndrome vanorarama hupenyu hunogara, hunowanzoitika uye vanogona kubatanidzwa zvizere kuchikoro, basa, nehupenyu hwemhuri.

Q2: Mwana wangu ane Noonan syndrome achakwanisa kuva nevana here?

Vanhu vakawanda vane Noonan syndrome vanogona kuva nevana, kunyange vamwe vangave nematambudziko ekubereka. Varume vangave vane matambudziko etesticles kana mamwe matambudziko ekubereka anogona kurapwa kazhinji. Vakadzi vanowanzova nekuzvara kwakajairika. Sezvo Noonan syndrome inogona kuririrwa, mazano emagene anogona kubatsira mhuri kunzwisisa mukana we50% wekupasa chirwere ichi kumwana mumwe nemumwe.

Q3: Noonan syndrome inokanganisa sei hungwaru nekudzidza?

Vanhu vakawanda vane Noonan syndrome vane hungwaru hwakanaka, kunyange vamwe vangave nematambudziko chaiwo ekudzidza. Matambudziko akajairika anosanganisira matambudziko ekutarisa, kukura kwemutauro, kana hunyanzvi hwemaoko. Matambudziko aya kazhinji mashoma uye anogona kugadziriswa nerutsigiro rwakakodzera rwekudzidzisa, mabasa ekurapa, uye kugadziriswa mune zvechikoro.

Q4: Kune marudzi akasiyana kana mazinga ekuomarara eNoonan syndrome here?

Kunyangwe Noonan syndrome isinganyorwi zviri pamutemo mune marudzi akasiyana, kuomarara kwacho kunosiyana zvikuru pakati pevanhu. Vamwe vanhu vane zvimiro zvishoma zvingasatombozivikanwa kusvika pakuva vakuru, nepo vamwe vane zviratidzo zvakakomba zvinoda kutarisirwa kwemishonga nguva dzose. Gene chaiyo inobatanidzwa inogona kukanganisa zviratidzo zvinogona kuitika, asi haifungidziri kuomarara.

Q5: Ndeapi matambudziko emwoyo anobatanidzwa neNoonan syndrome?

Anenge 80% yevanhu vane Noonan syndrome vane rudzi rwakati rwekushayikwa kwemwoyo. Yakajairika ndeye pulmonary valve stenosis, uko valve iri pakati pemwoyo nemapfupa yakamanikidzwa. Zvimwe zvinobvira zvinosanganisira hypertrophic cardiomyopathy, uko tsandanyama yemwoyo inowedzera, kana zvikanganiso zvechimiro senge septal defects. Matambudziko mazhinji emwoyo anogona kurapwa zvakabudirira nemishonga kana kuvhiya kana zvichidikanwa.