Kukura kwemwana wako idambudziko here? Ngatitaurei nezvechirwere chisingawanzoitiki chinonzi Robinow Syndrome.

Dzimwe nguva, zvinhu zvidiki nezvekukura kwevana vedu zvinotinetsa, handiti? Vamwe vana vanokura zvakasiyana, kana kuti nhengo dzavo hadzikure sezvatinotarisira. Nhasi tichataura nezvechirwere chemajini chisingawanzoitiki. Ichi chinonzi Robinow Syndrome, kana kuti `Robinow Syndrome' muchiRungu. Usatye paunonzwa izvi, nekuti izvi hazvisi zvinhu zvinoitika kuvanhu vazhinji. Zvisinei, zvakakosha kuti munhu wese azive izvi.

Chii chinonzi Robinow Syndrome?

Zvichitaurwa zviri nyore, chirwere cheRobinow Syndrome chirwere chisingawanzoitika chinokanganisa kukura kwemapfupa emwana nedzimwe nhengo dzemuviri. Semuenzaniso, maoko, makumbo, neminwe zvevamwe vana zvinogona kunge zvipfupi pane zvakajairwa. Vanogonawo kunge vaine musana wakakombama (unonziwo scoliosis), low rib cage, chitarisiko chechiso, kusagadzikana kwenhengo dzesikarudzi, uye dzimwe nguva kunonoka kukura.

Vanachiremba vanoshandisa mamwe mazita akati wandei padambudziko iri. Zvakanaka kuvazivawo:

• `Acral dysostosis ine kusarongeka kwechiso nenhengo dzemuviri` (kureva kusarongeka kwechiso nenhengo dzemuviri dzine matambudziko mumapfupa enhengo dzemuviri).
• `Fetal face syndrome` (inodaidzwa kudaro nekuti chiso chemwana chakafanana nechiso chemwana ari mudumbu).
• Mesomelic dwarfism - chirwere chenhengo dzepabonde diki (kupfupika kwezvikamu zvepakati zvemakumbo nenhengo dzepabonde diki).
• `Robinow dwarfism`. (or) `Robinow dwarfism`. (Or: Robinow dwarfism.)
• `Robinow-Silverman syndrome` kana `Robinow-Silverman-Smith syndrome`.

Kunyangwe paine mazita akawanda eizvi, ese anotaura nezvechirwere chimwe chete.

Kune marudzi maviri eRobinow Syndrome here?

Ehe, kune mhando mbiri huru dzeRobinow Syndrome. Idzi ndeidzi:

1. Autosomal recessive type: Izvi zvinganzwika zvakaoma, asi muchidimbu, kuti rudzi urwu ruitike, mwana anofanira kugara nhaka yekuchinja kwemajini kubva kuvabereki vese.

2. Autosomal dominant type: Murudzi urwu, chirwere chinogona kuitika kungave shanduko yemajini yakakodzera yakatorwa kubva kumubereki mumwe chete, kana kuti shanduko itsva yemajini inoitika zvisina tsarukano.

Mhando mbiri idzi dzakasiyana kubva kune mumwe nemumwe:

• Zvichienderana nekuchinja kwemajini kunokonzera chirwere ichi.
• Zvichienderana nekuti munhu anowana sei chirwere ichi.
• Zvichienderana nezviratidzo nezviratidzo zvakaratidzwa.
• Zvichienderana nekuoma kwechirwere.

Robinow Syndrome isingawanzoitiki sei?

Ichi chirwere chisingawanzoitiki . Zvichienderana nezvinyorwa zvekurapa, rudzi rwe autosomal recessive rwakataurwa muzviitiko zvisingasviki mazana maviri pasi rose. Rudzi rwe autosomal dominant rwakataurwawo mumhuri dzinosvika makumi mashanu chete. Saka unogona kufungidzira kuti izvi hazviwanzoitiki sei.

Sei chirwere cheRobinow chichiitika?

Chikonzero chikuru cheizvi ikushanduka kwemajini . Zvese zviri mumuviri wedu zvinodzorwa nemajini. Saka, kana paine shanduko kana chikanganiso mumajini aya, mamiriro aya anoitika.

• Autosomal recessive Robin syndrome inokonzerwa nekuchinja kwemajini kunonzi ROR2. Masayendisiti anotenda kuti puroteni inogadzirwa nejini iri reROR2 inobatsira kuti mapfupa edu, mwoyo, uye nhengo dzesikarudzi zvikure. Saka kana paine dambudziko nejini iri, puroteni yacho haigadzike zvakanaka.
• Autosomal dominant Robino syndrome inokonzerwa nekuchinja kwemajini akati wandei (FZD2, WNT5A, DVL1, DVL3). Majini aya anobatsirawo mukugadzirwa kwemapuroteni ane chekuita nekukura kwemwana ari mudumbu. Zvisinei, mabasa awo haasati anyatsonzwisiswa.

Asi chinoshamisa ndechekuti, dzimwe nguva chirwere ichi cheRobinow Syndrome chinogona kuitika kunyangwe pasina shanduko dzemajini dzakawanikwa. Masayendisiti haasati aziva kuti sei izvi zvichiitika.

Chirwere cheRobinow chinogarwa nhaka sei?

Tatotaura nezvenzira mbiri huru dzekugara nhaka iyi. Ngatizvitarisei zvakadzama.

• Sechirwere che recessive: Izvi zvinoitika kana mwana akagara nhaka makopi maviri ejini risingawanzoitiki - kubva kuvabereki vese. Chinhu chakakosha pano ndechekuti vabereki vese vanogona kutakura jini, asi vangasave nezviratidzo . Zvakaita sekuti vane jini iri mumiviri yavo sechakavanzika. Saka, kana vaviri vakatakura jini iri vaine mwana, pane mukana we25% wekuti mwana achava ne autosomal recessive Robin syndrome. Izvi zvinoreva kuti havasi vana vese vachazvarwa vaine chirwere ichi, asi pane njodzi.
• Dambudziko guru: Apa ndipo apo mwana anogara nhaka jini risingawanzoitiki kubva kumubereki mumwe chete. Kana, dzimwe nguva, shanduko itsva yemajini (mutation inongoerekana yaitika) inogona kuitika zvisina tsarukano, kureva kuti, pasina chikonzero chakajeka, mwana achiri kukura mudumbu. Zvakaoma kutaura kuti nei shanduko dzakadaro dzisingatarisirwi dzichiitika.

Saka, dzimwe nguva munhu anogona kuva mutakuri wekuchinja kwemajini uku asingatombozvizivi. Ndosaka dzimwe nguva mwana anogona kuva nechirwere ichi kunyangwe pasina mumwe mumhuri ane chirwere ichi.

Ndezvipi zviratidzo zvemwana ane Robinow Syndrome?

Zviratidzo zveizvi zvinogona kusiyana zvikuru kubva pamunhu kusvika pamunhu. Zvinoenderana nerudzi rwechirwere uye kuoma kwacho. Sezvatakambotaura, rudzi rwechirwere che autosomal recessive runowanzo ratidza zviratidzo zvishoma.

Zvisina kujairika zvinoonekwa pachiso:

Vana vane chirwere ichi vane zvimwe zvinhu zvechiso. Dzimwe nguva vanonzi "fetal facies," nekuti vanofanana nezvimiro zvechiso zvemwana ari mudumbu. Izvi zvinosanganisira:

• Huru yakafara kana kuti yakabudikira.
• Nzeve dzinogona kunge dzakaiswa nenzira isingawanzoitiki, semuenzaniso, dzakaderera pamusoro kana kuti dzakakombama zvishoma.
• Musoro wakakura kupfuura wakajairika (`(Macrocephaly)`) .
• Mugero wakadzika (philtrum) uri pakati pemuromo wepamusoro wakareba uye wakadzika.
• Maziso akapararira, akapararira zvakanyanya.
• Mhino pfupi, yakasimudza musoro.
• Chirebvu chidiki kana kuti chirebvu.
• Muromo une chimiro chetatu.
• Bhiriji remhino rakafara kana kuti rakanyura (kumusoro kwemhino).

Zvinhu zvinoonekwa mumasumbu:

Aya ndiwo mashanduko makuru anoonekwa mumapfupa:

• Scoliosis (scoliosis) .
• Kunonoka kukura uye kupfupika.
• Matambudziko emazino. Semuenzaniso, mazino akazadzwa, kukura kwemazino zvakanyanya, kana mukanwa wakatsemuka.
• Mbabvu dzinogona kunge dzakanamirana, kana kuti dzimwe mbabvu dzingangove dzisipo.
• Kupfupika kwemapfupa mumaoko nemakumbo.
• Kupfupika kweminwe (maoko netsoka) (`(Brachydactyly)`) .

Zvimwe zviratidzo:

Pamusoro peizvi, mamwe mabasa anogona kuonekwa:

• Kunonoka kukura . Asi chinhu chakakosha kutaura pano ndechekuti vana vazhinji vane Robinow Syndrome havakure nepfungwa dzakaremara muhupenyu hwavo. Izvi zvinoreva kuti kugona kwavo kudzidza kunogona kunge kwakajairika.
• Matambudziko eitsvo kana emwoyo.
• Kusakura zvakanaka kwenhengo dzesikarudzi. Dzimwe nguva nhengo dzesikarudzi dzinogona kuiswa nenzira inoita kuti zviome kuziva zvakajeka kana mwana ari mukomana kana kuti musikana.

Chii chinonzi Osteosclerotic Robinow Syndrome?

Muvanhu vashoma vane autosomal dominant Robinow syndrome (zvikurukuru inokonzerwa nekuchinja kweDVL1 gene), mapfupa avo anogona kunge akakora kana kuoma kupfuura zvakajairika . Vanachiremba vanodana chirwere ichi kuti Osteosclerotic Robinow Syndrome.

Chirwere cheRobinow chinowanikwa sei?

Chirwere ichi chinowanzoonekwa nekutarisa hunhu hwemuviri wemwana. Kana chiremba akaongorora mwana nokungwarira, vanoongorora zviratidzo zvataurwa pamusoro apa.

"Ah, chiremba, chiso chemwana wangu chakasiyana zvishoma nechavamwe vana... Makumbo ake anoita seapfupi zvishoma..." Vamwe vabereki vanotanga vauya nezvinhu zvakaita seizvi.

Zvisinei, kuti pave nechokwadi chekuti chirwere ichi chaongororwa, bvunzo chaiyo yemajini (`(Molecular genetic testing)`) inodiwa kuti ione kana paine shanduko yemajini . Izvi zvinoitwa murabhoritari nekuyedza:

• Muenzaniso weropa
• Muenzaniso wemate
• Chirauro chematama
• Dzimwe nguva chikamu chidiki cheganda

Kana mumwe munhu mumhuri yako aine Robinow Syndrome...

Kana zvakadaro, vanachiremba vanogona kukukurudzira kuti mwana aongorore chirwere ichi panguva yekuzvitakura.

• Kuongororwa kunonzi ``Chorionic villus sampling'' kunogona kuitwa nekutora sampuli diki kubva muplacenta.
• Neimwe nzira, bvunzo yemajini (`(genetic amniocentesis)`) inogona kuitwa, iyo inosanganisira kutora sampuro yemvura yeamniotic yakakomberedza mwana.

Nekuti bvunzo idzi dzakaoma zvishoma, dzinongoitwa chete nekurairwa nachiremba.

Mwana ane Robinow Syndrome anorapwa sei?

Kurapwa kwechirwere ichi kunosiyana kubva pamunhu kusvika pamunhu . Zvinoenderana nezviratidzo zvemwana. Kazhinji, timu yenyanzvi kubva kumatunhu akasiyana icharapa mwana. Chikwata ichi chinogona kusanganisira:

• Chiremba wemwoyo - kana uine matambudziko emwoyo.
• Chiremba wemazino, chiremba wemazino, kana chiremba wemuromo - kune matambudziko emazino neshaya.
• Nyanzvi yeEndocrinologist - Kune matambudziko emahormone ane chekuita nekukura kwenhengo dzesikarudzi.
• Chiremba wevana – Tarisa hutano hwemwana.
• Murapi wemuviri - anovandudza kufamba uye mashandiro emuviri.
• Chiremba wemapfupa - wematambudziko emapfupa nemapfundo.

Zvinotevera zvinogona kuitwa sekurapa:

• Isa mabhandeji kana machira akakosha kutsigira mapfupa anenge abatwa nechirwere.
• Shandisa zvinhu zvinobatsira mazino (zvishongedzo zvesimbi nezvimwe zvinoshandiswa pamuromo) kugadzirisa matambudziko emazino.
• Ipa mushonga wemahormone kuti ukurudzire kukura kana kukura kwenhengo dzesikarudzi.
• Ita maekisesaizi akakosha ekusimbisa muviri uye kuvandudza mashandiro awo.
• Kuvhiyiwa kugadzirisa kusarongeka kwemafupa kana nhengo dzesikarudzi.

Pamusoro pezvose izvi, vanachiremba vanokurudzirawo vanhu vane Robinow Syndrome nemhuri dzavo kuti vatsvage mazano ezvemajini . Izvi zvinogona kuvabatsira kunzwisisa zviri nani chirwere ichi, kuti chinogarwa nhaka sei, uye zvekutarisira pavanenge vachibereka vana mune ramangwana.

Ko Robinow Syndrome inogona kudzivirirwa here?

Kutaura zvazviri, kunze kwekunge vakaroorana vaongororwa majini vasati vaiswa muchibereko , hapana nzira yekudzivirira kushanduka kwemajini kunokonzera Robinow Syndrome. Kana iwe kana mumwe munhu mumhuri yako aine chirwere ichi, chinhu chakanakisa chekuita ndechekutaura nachiremba kana chipangamazano wemajini. Vanogona kukupa mazano pamusoro pemikana yekupa chirwere ichi kuzvizvarwa zvinotevera.

Remangwana remunhu ane Robinow Syndrome rakaita sei?

Kufanotaura kwemunhu ane chirwere ichi kunosiyana kubva pamunhu kusvika pamunhu . Zvinoenderana nezviratidzo uye kuoma kwazvo. Matambudziko emwoyo neitsvo asingawanzoitika anogona kupfupisa makore ekurarama. Zvisinei, vanhu vazhinji vanorarama hupenyu hwakajairika nekurapwa kwakanaka uye rutsigiro.

Kana mwana wangu aine Robinow Syndrome, chii chimwe chandinofanira kubvunza chiremba?

Kana mwana wako akaonekwa kuti ane chirwere ichi, unogona kubvunza vanachiremba mibvunzo iyi. Mibvunzo iyi ichakubatsira zvikuru:

• "Chiremba, mwana wangu ane chirwere cheRobinow Syndrome cherudzii? " (Ndizvo kuti, i autosomal recessive here kana kuti inotonga).
• " Tinofanira kufunga nezvekuvhiyiwa kugadzirisa kusarongeka kwemapfupa kana nhengo dzekubereka here? "
• "Ko mwana wangu achanonoka kukura here ?"
• "Une matambudziko emwoyo here kana kuti itsvo ?"
• " Ndeapi manyanzvi atinofanira kuona? Tinofanira kuvaona kangani ?"
• " Ndezvipi zviratidzo zvandinofanira kunyanya kunetseka nazvo? Ndofanira kukubata kana ndikaona chimwe chinhu chakadai here?"
• " Chirwere ichi chichapfupisa hupenyu hwemwana wangu here? "
• "Pane mapoka ekutsigirana angatibatsira kurarama nemamiriro ezvinhu aya here?"
• "Munokurudzira mazano ezvemajini here?"
• "Ipfungwa yakanaka here kuti mhuri yedu yese iongororwe majini ?"

Ramba uchifunga nezvemibvunzo iyi. Kuibvunza kuchakubatsira kuwana kurapwa kwakanakisisa uye rutsigiro rwakanakisisa kwauri nemwana wako.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Robinow Syndrome chirwere chisingawanzoitiki chemajini. Chinogona kukonzera kusashanda zvakanaka kwemapfupa, kutaridzika kwakasiyana kwechiso, matambudziko enhengo dzesikarudzi, nezvimwe zvinetso. Usazvidya moyo , ichi hachisi chinhu chinoitika kuvanhu vazhinji.

Zvisinei, kana uchifunga kuti mwana wako ane chimwe chezviratidzo izvi, enda kuna chiremba ane hunyanzvi nekukasika . Nyanzvi dzinogona kugadzirisa zvimwe zvezvisina kunaka mumafupa nenhengo dzesikarudzi uye kubatsira mwana wako kushanda zvakanaka. Nekurapwa kwakakodzera, kurapwa kwemuviri, uye rudo nerutsigiro rwemhuri, vana ava vanogona kusvika padanho ravo rakazara.

Robino syndrome, zvirwere zvemajini, kukura kwemwana, kuremara kwemapfupa, chitarisiko chechiso, mazano emajini, zvirwere zvisingawanzoitiki