Nzara nemabvi emwana wenyu zvakasiyana here? Zvingava chirwere cheNail-Patella Syndrome here?

Wakaona here shanduko munzara kana mabvi emwana wako? Dzimwe nguva izvi zvinogona kuva zviratidzo zvechirwere chemajini chinonzi Nail-Patella Syndrome. Izvi zvinganzwika sekutyisa, asi usazvidya mwoyo. Ngatitaurei nezvazvo zvakadzama uye zviri nyore. Izvi zvinogona kukanganisa chitarisiko uye mashandiro ezvikamu zvenzara, mapfupa, maziso, neitsvo zvemwana.

Ndezvipi zviratidzo zvechirwere ichi? Unozviziva sei?

Dzimwe nhengo dzemuviri wemwana ane Nail-Patella Syndrome dzinogona kutaridzika kana kushanda zvakasiyana nezviri kutarisirwa. Ngatitarisei zviratidzo izvi:

nzara

Nzara dzemwana wako dzinogona kunge dziri pfupi zvikuru, kana kutoshaikwa. Unogona kuona maburi, maburi, kana kuchinja ruvara rwenzara. Nzara dzinowanzo kanganiswa kupfuura nzara dzezvigunwe. Kuchinja uku kunonyanya kuonekwa pamunwe mukuru nemunwe mukuru.

Ibvi (Patella)

Chivharo chebvi, kana kuti chinonzi nachiremba "Patella", chinogona kuita diki, kutora chimiro chakasiyana, kana kutonyangarika. Dzimwe nguva chivharo ichi chinogona kuiswa pakakwirira zvishoma kana padivi pane zvakajairika. Izvi zvinogona kukonzera kuti ibvi remwana rirwadze, rinzwe risina kugadzikana, kana kuti risakwanise kukotama kana kutwasanudza ibvi zvakanaka (range of motion). Kutsemuka kwepatella chinhu chinowanzoitika muchirwere ichi. Fungidzira, paanenge achitamba, mwana wako anongoerekana abata ibvi rake otanga kuchema, asingakwanise kufamba.

Gokora

Mapfupa ari mumaoko emwana wako anogona kusakura zvakanaka sezvaitarisirwa. Uyewo, dzimwe nguva unogona kuona ganda rakawedzerwa (senge nyama inobatanidza) rakatenderedza gokora. Kuchinja uku kunogona kukanganisa kugona kwekutendeudza ruoko, kutambanudza, uye kukotama gokora.

Mapfupa ehudyu

Mwana wako anogona kunge aine mapfupa madiki (vanachiremba vanodana nyanga idzi kuti 'iliac') pamapfupa ake ehudyu. Anowanzoonekwa kumativi ese emapfupa ehudyu. Dzimwe nguva anogona kunzwikwa nepaganda remwana, asi kazhinji haakonzeri dambudziko guru.

Maziso

Kumanikidzwa kwemaziso emwana kunogona kuwedzera (hypertension yemaziso). Izvi zvinogona kuzopedzisira zvaita chirwere chinonzi glaucoma. Kunyangwe kazhinji pasina zviratidzo pakutanga, vamwe vana vanogona kunzwa musoro, kupenya kwemaziso, kana kuona zvisizvo.

Itsvo

Vanhu vanosvika vana pavanhu gumi vane chirwere cheNail-Patella vanozorwara neitsvo, kungava muhudiki kana kuti mukukura. Izvi zvinogona kubva pakuva zvisina kusimba kusvika pakufa. Kunyangwe chirwere cheitsvo chisina kusimba chinogona kukura, zvishoma nezvishoma kana kamwe kamwe.

Zvimwe zviratidzo

Vamwe vanhu vane Nail-Patella syndrome vanogonawo kusangana nezvimwe zviratidzo, zvakaita se:

• Kufamba netsoka dzakatetepa nekuda kwekuoma kwetsinga yeAchilles.
• Kudzikira kwetsandanyama mumaoko nemakumbo.
• Kuzvimbirwa uye/kana chirwere chebowel chinokatyamadza.
• Kuderera kwehuwandu hwemaminerari mumapfupa.
• Dzimwe nguva kunzwa kusanzwa, kukwenya, kana kurasikirwa nemanzwiro mumaoko netsoka.
• Mazino asina simba kana kuti anotyoka nyore nyore kana kuti enamel yemazino inotetepa.
• Kukombama kwemusana zvisina kujairika (scoliosis).

Vatsvakurudzi vachiri kuedza kunzwisisa kuti matambudziko aya akajairika sei pakati pevanhu vane Nail-Patella syndrome.

Sei chirwere ichi che nail-patella chichiitika?

Zvichitaurwa zviri nyore, Nail-Patella Syndrome inokonzerwa nekuchinja kwemajini emwana wako (majini akasiyana). Kazhinji , shanduko idzi dzinowanikwa mujini rinonzi LMX1B muvanhu vane chirwere ichi. Iri jini reLMX1B ndiro rinoudza mwana maitiro ekugadzira zvinhu zvakaita semaoko, makumbo, maziso, neitsvo pavanenge vari mudumbu.

Marudzi aya emajini anoita kuti puroteni yeLMX1B isashande sezvaitarisirwa. Nekuda kweizvozvo, nhengo dzakasiyana dzemuviri wemwana hadziumbike zvakanaka, zvichikonzera zviratidzo zveNail-Patella syndrome.

Zvisinei, kashoma, vamwe vanhu vanogona kuva nezviratidzo zveNail-Patella syndrome vasina kuchinja kwejini reLMX1B. Vaongorori vanofunga kuti mamwe majini anogona kunge aripo, uye vachiri kuferefeta.

Chirwere ichi chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe chizvarwa here?

Ehe, Nail-Patella Syndrome chirwere chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe (mu "autosomal dominant pattern"`). Izvi zvinoreva kuti kana mwana akagara nhaka kopi imwe chete yerudzi urwu kubva kumubereki chero upi zvake, mwana ane mukana wekuva nechirwere ichi.

Zvichitaurwa zviri nyore, kana uine chirwere cheNail-Patella, vana vako vane mukana we50% wekugara nhaka chirwere ichi. Njodzi iyi yakafanana pakubata pamuviri pese. Uye hazvina basa kuti uri musikana here kana mukomana.

Vanhu vanosvika vapfumbamwe pagumi vane chirwere cheNail-Patella vane mumwe wevabereki vavo vane chirwere ichi. Zvisinei, munhu mumwe pavanhu gumi anogona kunge asina nhengo yemhuri ine chirwere ichi. Izvi zvinoreva kuti vamwe vana ndivo vekutanga mumhuri mavo kuzvarwa vaine chirwere ichi.

Ndezvipi zvimwe zvinetso zvinogona kukonzera izvi?

Dambudziko reNail-Patella Syndrome rinogona kukonzera mamwe matambudziko. Aya ndiwo:

• Osteoarthritis (kurwadziwa kwemajoini) mumabvi emwana wako uye/kana magokora kunogona kuitika achiri mudiki pane zvaitarisirwa.
• Glaucoma inogona kukonzera kurasikirwa nekuona kana ikasabatwa zvakanaka.
• Kukundikana kweitsvo.

Vamwe vanhu vane chirwere cheNail-Patella vanogona kuda dialysis kana kuisirwa itsvo nekuda kwekutadza kushanda kweitsvo.

Uyewo, kana munhu ane Nail-Patella syndrome akava nepamuviri, pane mukana wekuva nechirwere chinonzi ``preeclampsia``` panguva yekuzvitakura. Vanachiremba vanoongorora uye vanogadzirisa mishonga sezvinodiwa panguva yekuzvitakura kuti vaderedze njodzi iyi.

Chirwere ichi chinoongororwa sei nemazvo?

Vanachiremba vachaita imwe kana kupfuura yeiyi bvunzo kuti vaongorore chirwere ichi:

• Kuongororwa kwemuviri : Tsvaga zvinhu zvakaita sekuchinja kwembambo nekuchinja kwemapfupa.
• Kuongororwa kwemifananidzo kwakakosha : X-rays, CT scans, uye MRIs zvinoshandiswa kuongorora mapfupa zvakanyanya.
• Kuongororwa kweropa uye/kana weti : Tarisa kuti itsvo dziri kushanda sei.
• Kuongororwa kweitsvo : Kanyama kadiki kanotorwa kubva muitsvo koongororwa kana paine shanduko dzakaita seNail-Patella syndrome.
• Kuongororwa kwemajini : Izvi zvinoedza marudzi emajini.

Vanachiremba vachataura newe vachikubvunza nezvenhoroondo yezveutano hwemhuri yemwana wako. Semuenzaniso, vachakubvunza kana paine munhu mumhuri yako akambova neNail-Patella syndrome kana chimwe chirwere chemajini. Ruzivo urwu ruchabatsira mukuongororwa kwechirwere. Vanogonawo kukurudzira kuongororwa kwemajini kwauri kana kune vamwe vemumhuri.

Zviratidzo zveNail-Patella syndrome zvinowanzoonekwa vachiri vadiki. Zvisinei, kune vamwe vanhu, chirwere ichi chinogona kusaonekwa kwemakore, kungave nekuda kwekuti zviratidzo zvacho hazvina kunyanya kujeka kana kuti zviratidzo zvacho hazvisi pachena. Vanachiremba vanogona kuona chirwere ichi muvana nevakuru vemazera ese.

Vanachiremba verudzii vacharapa mwana wangu uye vachaongorora chirwere chacho?

Mwana wako angangoda timu yevanachiremba vane hunyanzvi muzvikamu zvemuviri zvinokanganiswa neNail-Patella Syndrome. Semuenzaniso:

• Chiremba wemapfupa anobatsira nezvinetso zvemapfupa.
• Chiremba wezvetsinga anoongorora mashandiro eitsvo dzemwana.
• Nyanzvi yezvemaziso inoongorora maziso emwana.

Ndeipi mishonga yekurapa chirwere chenzara-patella?

Nail-Patella Syndrome chirwere chinogara kwenguva refu. Hapana mushonga wechirwere ichi. Zvisinei, kune mishonga iripo yekudzivirira zviratidzo uye kuderedza njodzi yematambudziko.

Kune mhando dzakasiyana dzekurapa izvi, uye kurapwa kunopfuura kumwe chete kunogona kudiwa zvichienderana nekuti chirwere ichi chinokanganisa sei mwana wako. Vanachiremba vemwana wako vacharonga kurapwa zvichienderana nezvaanoda. Izvi zvinogona kuchinja nekufamba kwenguva. Mamwe marapirwo angangowanikwa anosanganisira:

• Kurapa kwemuviri kubatsira nematambudziko ekufamba.
• Mishonga yekudzora marwadzo emapfupa netsandanyama, BP, kana BP yemaziso.
• Kuvhiyiwa kwekuderedza kusashanda zvakanaka kwemapfupa, glaucoma, kana chirwere cheitsvo chakakomba (kusanganisira kuisirwa itsvo).

Vanachiremba vemwana wenyu vachakutsanangurirai zvakanakira nezvakaipira zvekurapa kwega kwega. Kutarisira chirwere chemwana chakaoma kunogona kukuomerai. Saka musazeza kubvunza mibvunzo uye kuudzai zvinokunetsai. Nenzira iyi, munogona kuva nechivimbo nezvechirongwa chekurapa chemwana wenyu.

Ko chirwere ichi chichakanganisa hupenyu hwemwana here?

Chirwere cheNail-Patella Syndrome hachiwanzo kanganisa hupenyu hwemunhu. Zvisinei, kana chirwere cheitsvo chikaitika, chinogona kuchinja. Dambudziko iri rinogona kukanganisa fungidziro yechirwere uye kuti munhu achararama kwenguva yakareba sei. Vamwe vanhu vangatoda kuisirwa itsvo.

Zvirwere zvemajini zvakaita seNail-Patella syndrome zvinobata mwana wega wega zvakasiyana, saka zvakaoma kutaura kuti zviratidzo zvemwana wako zvichave zvipi uye kuti zvichave zvakakomba sei. Vanachiremba vemwana wako vachakwanisa kukuudza zvakawanda nezveizvi.

Chirwere cheNail-Patella chinogona kudzivirirwa here?

Parizvino hapana nzira inozivikanwa yekudzivirira chirwere ichi chemajini. Kana iwe kana mumwe wako aine Nail-Patella Syndrome, uye uri kuronga kuva nemwana, zvakanaka kutaura nenyanzvi yezvemajini . Vanogona kukubatsira kunzwisisa mikana yekuti mwana wako achagara nhaka chirwere ichi.

Mwana wangu anofanira kuona chiremba rini?

Mwana wako angangoda kugara achionekwa navanachiremba vakasiyana-siyana. Chikwata chevanachiremba vemwana wako chichakuudza kuti ndeapi maaphoyintimenti anodiwa uye kangani.

Kazhinji, mwana wako anofanira kuongororwa zvinhu izvi nguva nenguva:

• Kuongororwa kweropa.
• Kuongororwa kweweti, kusanganisira iyo inoyera mazinga e "albumin-creatinine".
• Kuongororwa kweGlaucoma.
• Kuongororwa kwehuwandu hwemapfupa.

Vanachiremba vanogona kukubatsira kutsanangura kukosha kwemiedzo iyi kumwana wako.

Zvakakoshawo kutarisisa hutano hwepfungwa dzemwana wako - uye hwako. Mwana wako anogona kunyara nechitarisiko chake, kana kuti angangoda rubatsiro rwekuvaka chivimbo chake. Ungangozvibvunzawo kuti chii chaungaite kuti umubatsire kunzwa zvakanaka.

Taura navanachiremba vemwana wako nezvekubatana nemapoka ekutsigira, varapi, uye vashandi vezvemagariro evanhu. Kuva nechikwata chevabereki vane ruzivo nenyanzvi dzehutano dzinotsigira mhuri yako kunogona kuita mutsauko mukuru muhupenyu hwako hwezuva nezuva.

Chirwere chenail-patella chinowanzoitika kakawanda sei?

Vaongorori vanofungidzira kuti Nail-Patella Syndrome inobata munhu mumwe chete pavanhu 50,000. Zvisinei, inogona kunge yakajairika nekuti vanhu vane zviratidzo zvishoma havaonekwe.

Pane mamwe mazita here eizvi?

"Chirwere chaFong" rimwe zita reNail-Patella Syndrome. Zita iri raiwanzoshandiswa kare. Nhasi, vanhu vazhinji vanoriti Nail-Patella Syndrome.

Rimwe zita remamiriro akafanana ndi "hereditary onycho-osteodysplasia". Ngatitarisei zvinoreva chikamu chimwe nechimwe chezita iri:

• "Nhaka" zvinoreva kuti inogona kuonekwa mumhuri.
• "Onycho" zvinoreva zvipikiri.
• "Osteo" zvinoreva mapfupa.
• "Dysplasia" zvinoreva kuti pane chimwe chikamu chemuviri chisina kujairika kana kuti chisina kunaka.

Saka, ndezvipi zvinhu zvakakosha zvekurangarira kubva pane zvatataura nezvazvo?

Kana mwana wako aine chirwere chemajini chehupenyu hwake hwese chakadai seNail-Patella Syndrome, zvinhu zvinogona kukuomera zvishoma. Ungave uchinetseka nezvekugara zvakanaka kwemwana wako, remangwana rake. Ungave uchinetsekawo kuti chii chaunoda kubva kwaari kuti umubatsire kukura, kubudirira, uye kuva nehupenyu hunofadza. Mutoro mukuru, asi haufanirwe kuutakura wega. Taura nechikwata chevanachiremba vemwana wako nezvenzira dzekutsigira zvinodiwa nemwana wako - nezvako.

Yeukai, kuonekwa kwechirwere ichi nekukurumidza uye kurapwa kwakakodzera kunobatsira mwana wenyu kurarama hupenyu hwakanaka uye hune hutano. Musatya kana kutya. Chinhu chakakosha kubata mwana wenyu nerudo nekunzwisisa muchitevera mazano echiremba.

` Nail-Patella Syndrome, Zvirwere zveMajini, Nzara, Mabvi, Patella, Chirwere cheItsvo, LMX1B, Chirwere chaFong, Hutano hweVana