Mwana wako ari kusangana nematambudziko nemaziso, nzeve, uye majoini panguva imwe chete here? Izvi zvinogona kunge zviri Stickler Syndrome!

Dzimwe nguva vadiki vedu vanorwara mumwe mushure memumwe, handiti? Asi vamwe vana vanogona kungoerekana vatanga matambudziko akasiyana-siyana, akadai sematambudziko ekuona, matambudziko ekunzwa, uye kurwadziwa kwemajoini. Wakambosanganawo nedambudziko rakafanana here? Saka izvi ndezvechirwere chemajini chinonzi Stickler Syndrome, chinogona kukonzera chirwere chakadaro. Kunyangwe izvi zvingaita sezviri nyore, ngatitaurei nezvazvo zviri nyore.

Chii chinonzi Stickler Syndrome? Kutaura chokwadi...

Zvichitaurwa zviri nyore, Stickler syndrome chirwere chemajini . Chinokonzerwa nekuchinja kwemajini edu. Chinonyanya kukanganisa matishu anobatanidza mumuviri wedu. Tishu iyi imhando yetishu inobatanidza, inotsigira, uye inopa chimiro kune dzimwe nhengo dzemuviri wedu, dzakadai senhengo netishu. Funga nezvazvo sekushandisa simende newaya kubatanidza madziro nedenga remba yedu. Tishu iyi inobatanidzawo inokosha kumuviri wedu.

Saka, muchiitiko ichi cheStickler syndrome, nyama dzinobatana munzvimbo dzakadai sechiso, nzeve, maziso, uye majoini dzinonyanya kukanganiswa. Nekuda kweizvi, vamwe vana vanogona kuchinja kumeso, senge cleft palate. Panogonawo kuva nematambudziko ekuona , kunzwa, uye kufamba. Izvi dzimwe nguva zvinonzi Stickler dysplasia.

Chirwere ichi chakajairika zvakadii? Ndiani anowanzobatwa nacho?

Chirwere cheStickler chinofungidzirwa kuti chinobata mwana mumwe kusvika vatatu pavana vacheche vanosvika 7,500 kusvika ku10,000. Zvisinei, nekuda kwekuti chirwere ichi chinowanzoonekwa chisina kunyatsojeka, zvakaoma kutaura kuti vangani chaizvo vanotambura nechirwere ichi.

Kana tichitaura nezvemunhu anoiwana, chero ani zvake anogona kubatwa neStickler syndrome. Zvisinei, kana mumwe munhu mumhuri, kureva amai, baba, kana munin'ina, aine chirwere ichi, njodzi yekuti vamwe vatambure yakanyanya. Zvisinei, dzimwe nguva, pasina nhoroondo yemhuri, chirwere ichi chinogonawo kuitika nekuda kwekuchinja kwemajini (` genetic mutation`) . Kureva kuti, hachifanirwe kunge chiri chinhu chinogarwa nhaka.

Stickler Syndrome inokanganisa sei muviri?

Sezvatakambotaura, chirwere ichi chinokanganisa nhengo dzemuviri. Rimwe remabasa makuru enhengo dzemuviri wedu nderekuchengetedza nekutsigira dzimwe nhengo dzemuviri. Saka, kana paine shanduko, kana chikanganiso, mujini rinogadzira nhengo dzemuviri, jini iroro hariwani mirairo chaiyo yekuti ringagadzira sei nhengo dzemuviri uye kuti dzinofanira kushanda sei.

Ndosaka, kune munhu ane Stickler syndrome,Kuona, kunzwa, uye kufamba kwemajoini zvinokanganiswa. Maziso, nzeve, nemajoini zvinokanganiswa zvakanyanya. Vanhu vane Stickler syndrome vanowanzova nearthritis vachiri vadiki . Zvisinei, nekurapwa kwakakodzera, zviratidzo zvinogona kudzorwa uye vanhu vane chirwere ichi vanogona kurarama hupenyu hwakajairika uye hunoshanda .

Ndezvipi zviratidzo zveizvi? Ungazviziva sei?

Zviratidzo zveStickler syndrome zvinogona kusiyana kubva pamunhu kuenda kune mumwe . Haasi munhu wese ane zviratidzo zvese. Ndizvo zvinoita kuti ive yakasiyana. Semuenzaniso, mwana mumwe anogona kunge aine matambudziko emaziso akawanda, nepo mumwe achigona kunge aine marwadzo emajoini akawanda.

Kune mhando dzakasiyana dzezviratidzo zvinogona kuonekwa:

Matambudziko emapfupa nemajoini:

• Pakutanga , majoini anogona kunge achichinjika zvakanyanya , asi nekufamba kwenguva anogona kutanga kuomarara .
• Kukombama kwemusana, kana kuti scoliosis, kunogona kuitika.
• Arthritis inogona kukura achiri mudiki. Fungidzira kana mwana, asati atombosvitsa makore gumi, akamuka mangwanani achinyunyuta nezvekurwadziwa kwemajoini ake, unofanira kunetseka.

Matambudziko ekunzwa nenzeve:

• Kurasikirwa nekunzwa kunogona kuitika nenzira dzakasiyana-siyana. Vamwe vanhu vanogona kurasikirwa nekunzwa zvishoma, nepo vamwe vanogona kunzwa matsi zvachose.

Matambudziko emaziso:

• Kuona zviri pedyo zvakanyanya (kana kuti myopia) zvinoreva kuti zvinhu zviri pedyo chete ndizvo zvinoonekwa zvakajeka, nepo zvinhu zviri kure zvisina kujeka.
• Retina yakaparadzaniswa. Izvi zvinogona kuitika kamwe kamwe uye zvinoda kurapwa nekukasika.
• Matumbu emusoro (cataracts) .
• Kuwedzera kwekumanikidzwa muziso, uko kunonzi glaucoma.

Zvinhu zvakakosha zvinoonekwa pachiso:

Kazhinji, chimiro chechiso chevana vane chirwere ichi chinogonawo kukanganiswa mukukura kwavo.

• Kutsemuka kwemuromo : Izvi zvinoreva kuti pane mukaha padenga remuromo.
• Rushaya rwezasi rudiki uye rwakakombama (`micrognathia`) : Izvi dzimwe nguva zvinonzi `Pierre Robin sequence`. Izvi zvinogona kukonzera kuti vamwe vana vaomerwe nekufema nekumedza.
• Chiso chinova chakati sandara uye mhino inova diki.

Zvimwe zviratidzo:

Pamusoro peizvi, zvimwe zviratidzo zvinogona kuonekwa:

• Kuoma kufema (kunyanya kuvana vane micrognathia).
• Matambudziko ekudya kwevana vacheche.
• Matambudziko ekudzidza anokonzerwa nekutadza kuona zvakanaka uye kunzwa zvakanaka.

Zvakakosha: Havasi vese vane zviratidzo izvi zvese. Musazvidya mwoyo kana mwana wenyu aine chimwe kana zviviri zvezviratidzo izvi, asi kana mukaona zvimwe zvacho pamwe chete, zvakanaka kutsvaga rubatsiro rwechiremba.

Kune mhando dzakasiyana dzeStickler Syndrome here?

Ehe, kune mhando nhanhatu huru dzeStickler syndrome dzinozivikanwa. Kuoma uye hunhu hwezviratidzo zvinosiyana zvichienderana nerudzi urwu.

• Rudzi rwekutanga: Urwu ndirwo rudzi rwakajairika . Kurasikirwa nekunzwa zvishoma uye kusaona zviri pedyo ndizvo zviratidzo zvikuru.
• Rudzi rwechipiri: Izvi zvinonyanya kukanganiswa nekurasikirwa nekunzwa uye kuona zviri pedyo.
• Rudzi rwechitatu: Kurasikirwa nekunzwa uye matambudziko emajoini ndizvo zviratidzo zvikuru. Zviratidzo zvekuona hazviwanzo kuwanikwa .
• Mhando dze IV, V, ne VI: Mhando idzi hadziwanzowanikwe . Dzinogona kuva nematambudziko ekuona zvakanyanya uye kunzwa. Dzinogonawo kuva nezviratidzo zvakaoma, zvakaita sekuguma kwakakura kwemapfupa marefu (spondyloepiphyseal dysplasia) uye arthritis.

Vanachiremba vanosarudza kuti munhu ndewerudzii zvichibva pazviratidzo uye bvunzo.

Chii chinokonzera izvi? Chii chinokonzera majini?

Chikonzero chikuru cheStickler syndrome ikuchinja kwemajini . Kuchinja uku kunogona kuitika mune chero majini matanhatu anorayira miviri yedu kugadzira puroteni yakakosha inonzi collagen . Collagen ndiyo chinhu chikuru chinopa matishu edu anobatanidza kuchinjika uye simba rawo. Funga nezvazvo sebhandi rerabha, rinoita kuti anyatsogadzikana uye arambe akasimba.

Saka, kana paine chikanganiso mumajini aya, puroteni yecollagen haigadzirwe zvakanaka. Izvi zvinonyanya kukanganisa collagen inoumba cartilage yedu uye chinhu chakafanana nejelly chiri mumaziso edu. Pakati pemajini aya, majini akadai se `(COL2A1)`, `(COL11A1)`, `(COL11A2)` ndiwo makuru.

Kana mwana akagara nhaka imwe yemajini aya akachinja, anogona kuratidza zviratidzo zveStickler syndrome.

Majini aya anogarwa nhaka sei?

Kune nzira mbiri huru dzinogarwa nhaka nadzo:

• Chimiro chikuru che autosomal:Iyi ndiyo mhando inonyanya kuwanikwa (kunyanya mhando I, II, uye III). Chinoitika pano ndechekuti kunyangwe kana mubereki mumwe chete aine gene mutation, pane mukana we50% wekuti mwana achaigara nhaka.
• Autosomal recessive: Izvi hazviwanzoitiki (zvinogona kuonekwa mumhando yeIV, V, uye VI). Pano, vabereki vese vanofanira kunge vaine hutano hwakanaka . Kureva kuti, havana zviratidzo, asi vane jini rakachinja. Kana zvakadaro, pane mukana we25% wekuti mwana achagara nhaka chirwere ichi.

Dzimwe nguva, kuchinja kwemajini matsva (`de novo mutation`) kunogona kuitika zvisina tsarukano , pasina nhoroondo yemhuri. Zvinhu izvi zvakaoma kufanotaura pachine nguva.

Vanachiremba vanoongorora sei izvi?

Chiremba anotora matanho akati wandei kuti aongorore chirwere cheStickler.

• Nhoroondo yezveutano hwemhuri uye kuongororwa kwemuviri: Kutanga, iwe nemwana wako muchabvunzwa nezvezviratidzo zvenyu uye kana paine mumwe munhu mumhuri menyu akambova nematambudziko akafanana. Zvadaro, mwana wenyu achaongororwa kuti aone kana paine zviratidzo zvakakosha pachiso, nzeve, maziso, uye majoini.
• Kuongororwa kwekuona nekunzwa: Kuongororwa uku kunoitwa navanachiremba vane hunyanzvi kuti vaongorore nhanho yekuona nekunzwa.
• Miedzo yekufungidzira: Dzimwe nguva bvunzo dzakadai seX-ray dzinogona kuitwa kuti paonekwe kana paine kusarongeka mumapfupa nemapfundo.
• Kuongororwa kwemajini: Uku ndiko kuongorora kukuru kunobatsira kuona chirwere ichi. Sample yeropa kana kuti sampuro yenyama inotorwa yoongororwa kuti ione kana paine shanduko dzemajini dzinokonzera chirwere cheStickler.

Izvi zvinogona kuonekwa here mwana asati aberekwa?

Ehe, dzimwe nguva kuongororwa kwemajini emwana asati aberekwa kunogona kuona chero kusarongeka kana shanduko mumajini emwana. Zvisinei, kuongororwa kwakajeka kunowanzoitwa mushure mekuzvarwa kwemwana, mushure mekuongororwa kwakazara kwemuviri uye mimwe miedzo inodiwa kuti zviratidzo zvionekwe.

Ndeipi mishonga yeStickler Syndrome?

Iri idambudziko rine vanhu vazhinji. Parizvino hapana mushonga weStickler syndrome. Asi musazvidya moyo. Kune nzira dzakawanda dzinoshanda dzekurapa zviratidzo uye kuderedza kukanganiswa kwazvo . Kuongororwa nekukurumidza uye kurapwa ndizvo zvinonyanya kukosha. Kunyanya kana paine matambudziko e retina kana majoini akapatsanurwa, kurapwa kwekutanga kunogona kudzivirira kukuvara kukuru.

Nzira dzekurapa dzinosiyana zvichienderana nezviratidzo. Heano mamwe emishonga mikuru:

• Kuvandudza kuonaKupa magirazi emaziso kana ma contact lenses.
• Kupa zvinhu zvinobatsira kunzwa kuti zvivandudze kunzwa.
• Kupa mishonga yekuderedza marwadzo emapfundo.
• Kana paine kukombama kana kusarongeka zvakanaka mumazino, kurapwa kwemazino emazino kunogona kuitwa kuti agadziriswe.
• Kurapa kwemuviri ( senge maekisesaizi akakosha) kusimbisa majoini uye kuvandudza kufamba-famba.
• Kuvhiyiwa:
• Kubatanidzwazve kwe retina yakabviswa (kuvhiyiwa kwekubatanidzazve retina).
• Kugadziriswa kwemukanwa wakachekwa.
• Kana kufema kwakanyanya, chubhu diki inogona kuiswa mumutsipa kuti kufema kuve nyore (zvichida tracheostomy).
• Gadzirisa kana kutsiva majoini akakuvara.

Kuburikidza nekurapwa uku, vana nevakuru vane Stickler syndrome vanowana rubatsiro rukuru mukurarama hupenyu hwakajairika, hwakazara, uye hune simba .

Mamiriro ezvinhu aya anogona kudzivirirwa here?

Stickler syndrome chirwere chinokonzerwa nemajini, saka hachigone kudzivirirwa . Zvisinei, kana mumwe munhu mumhuri yako aine chirwere ichi uye uri kuronga kuva nemwana, kupiwa mazano ezvemajini uye kuongororwa kwemajini kunogona kukubatsira kunzwisisa njodzi yekuti mwana wako agare nhaka chirwere ichi.

Chii chaungatarisira kana uchirarama neStickler Syndrome?

Kunyangwe pasina mushonga wechirwere ichi, hachikanganisi tarisiro yehupenyu hwemunhu . Kureva kuti, vanhu vane chirwere ichi vanorarama hupenyu hwakafanana nevamwe vese. Nekutarisirwa nachiremba nguva dzose, kurapwa kunodiwa, uye rutsigiro, vanhu vazhinji vanorarama hupenyu hune simba uye hunogutsa.

Chinhu chinonyanya kukosha ndechekuona chirwere ichi vachiri vacheche kana kuti vachiri vadiki . Zvadaro, zviratidzo zvinogona kugadziriswa nekukurumidza uye matambudziko angangomuka mune ramangwana anogona kudzivirirwa.

Dzimwe nguva zviratidzo zvinogona kudzoka kunyangwe mushure mekurapwa. Semuenzaniso, kunyangwe ukavhiyiwa kubvisa retina yakabviswa, chirwere chacho chinogona kudzoka. Saka, zvakakosha kuenda kunoongororwa nachiremba nguva dzose uye kutarisisa zviratidzo zvako .

Pane here chinokanganisa mabasa ezuva nezuva?

Izvi zvinosiyana kubva pamunhu kuenda kune mumwe, zvichienderana nerudzi rwezviratidzo. Vamwe vanhu vangasava nedambudziko guru, nepo vamwe vangafanira kurarama nezvimwe zvipingamupinyi. Zvikuru, vanachiremba vanokurudzira kudzivisa mitambo yekubata nhengo , yakadai serugby nenhabvu, sezvo njodzi yekukanganisika kweretina yakakwira mumitambo yakadaro.

Unofanira kuona chiremba rini?

Kana iwe kana mwana wako muine zviratidzo zvamunofunga kuti zvine chekuita neStickler syndrome uye zviri kukanganisa mabasa enyu ezuva nezuva kusvika pakusagona kushanda zvakanaka, iva nechokwadi chekuona chiremba.

• Kana uine kurwadziwa kwakanyanya kwemajoini .
• Kana kuona kwako kuchichinja kamwe kamwe (semuenzaniso, kuona kusina kujeka, kuona mwenje ichipenya pamberi pemaziso ako, kuona madotsi matema kana mambure achiyangarara pamberi pemaziso ako, kana kunzwa semumvuri muchikamu chekuona kwako - izvi zvinogona kunge zviri zviratidzo zve retina yakaparadzana).
• Kana uchinetseka nekumedza chikafu kana chinwiwa.
• Kana nzvimbo yakavhiyiwa ichibuda ropa, yakazvimba, kana kuti ine tsvina yeyero (izvi zvinogona kureva hutachiona).

Zvakakosha zvikuru: Kana iwe kana mwana wako muchinetseka kufema , idambudziko rekukurumidza. Endai kuchipatara chiri pedyo nekukasika, kana kufonera 1990.

Ndeipi mibvunzo inokosha yekubvunza chiremba?

Kana wangoziva kuti iwe kana mwana wako ane Stickler syndrome, unogona kubvunza chiremba mibvunzo yakaita seiyi:

• Chirwere ichi chinonzi Stickler Syndrome chakakomba zvakadii?
• Chikonzero cheizvi chii?
• Izvi zvichakanganisa sei hupenyu hwemwana wangu hwezuva nezuva?
• Ndezvipi zvinetso zvandinofanira kunyanya kunetseka nazvo? Ndezvipi zviratidzo zvazvo?

Pamusoro pemibvunzo iyi, taura nachiremba wako nezvechero chauri kufunga, chero chaunotya, kana kusava nechokwadi kwaunako.

Pakupedzisira, pfungwa dzakakosha (Mharidzo Yekuenda Kumba)

Stickler syndrome inogona kutyisa kunzwa. Asi yeuka zvinhu izvi:

• Ichi chirwere chemajini , kwete chimwe chinhu chinokonzerwa nekusangwarira kwako.
• Nekuti inonyanya kukanganisa nhengo dzemuviri , inogona kukonzera shanduko mumaziso, nzeve, majoini, uye kumeso.
• Zviratidzo zvinogona kusiyana zvikuru kubva pamunhu kusvika pamunhu .
• Kunyange hazvo pasina mushonga wakakwana, kune nzira dzakawanda dzekurapa dzinobatsira kudzora zviratidzo uye kurarama hupenyu huri nani .
• Kuongororwa kwechirwere nekukurumidza uye kutanga kurapwa ndiyo nzira yakanakisisa yekuwana mhedzisiro inobudirira.
• Kana mumwe munhu mumhuri yako aine chirwere ichi, zvakakosha kutsvaga mazano ezvemajini .

Nekusatya uye kutevedzera mazano akakodzera ekurapa, munhu ane Stickler syndrome anogona kugadzirira hupenyu hwakanaka sevamwe vese. Kana uine mimwe mibvunzo, usazeza kutaura nachiremba.

Stickler syndrome, zvirwere zvemajini, connective tissue, collagen, kusaona zvakanaka, kusanzwa zvakanaka, matambudziko emajoini, hutano hwevana