Ingabe ukukhula kwengane yakho kuyinkinga? Ake sixoxe ngesimo esingavamile iRobinow Syndrome.

Ngezinye izikhathi, izinto ezincane mayelana nokukhula kwezingane zethu ziyasikhathaza, akunjalo? Ezinye izingane zikhula ngendlela ehlukile, noma izitho zazo azikhuli ngendlela esilindele ngayo. Namuhla sizokhuluma ngesimo sofuzo esingavamile kakhulu. Lokhu kubizwa ngokuthi iRobinow Syndrome, noma "iRobinow Syndrome" ngesiNgisi. Ungesabi uma uzwa lokhu, ngoba lokhu akuyona into eyenzeka kubantu abaningi. Kodwa-ke, kubalulekile ukuthi wonke umuntu aqaphele lokhu.

Iyini i-Robinow Syndrome?

Kalula nje, i-Robinow Syndrome yisimo esingavamile sofuzo esithinta ukukhula kwamathambo engane nezinye izingxenye zomzimba. Isibonelo, izingalo, imilenze, neminwe yezingane ezithile kungaba mfushane kunokujwayelekile. Zingase zibe nomgogodla ogobile (obizwa nangokuthi i-scoliosis), i-low rib cage, izici zobuso, ukukhubazeka kwezitho zangasese, kanye nokubambezeleka kokukhula ngezinye izikhathi.

Odokotela basebenzisa amanye amagama amaningana kulesi simo. Kuhle ukuwazi futhi:

• `I-Acral dysostosis enezinkinga zobuso nezitho zangasese` (okungukuthi, izinkinga zobuso nezitho zangasese ezinezinkinga emathanjeni ezitho).
• `I-Fetal face syndrome` (ibizwa kanjalo ngoba ubuso bomntwana bufana nobuso bomntwana osesiswini).
• I-Mesomelic dwarfism - i-small genitalia syndrome (ukufinyezwa kwezingxenye eziphakathi zemilenze kanye nezitho zobulili ezincane).
• `URobinow dwarfism`.
• `I-Robinow-Silverman syndrome` noma `I-Robinow-Silverman-Smith syndrome`.

Nakuba kunezibizo eziningi zalezi, zonke zibhekisela esimweni esifanayo sempilo.

Ingabe kunezinhlobo ezimbili ze-Robinow Syndrome?

Yebo, kunezinhlobo ezimbili eziyinhloko ze-Robinow Syndrome. Lezi yizi:

1. Uhlobo lwe-Autosomal recessive: Lokhu kungase kuzwakale kuyinkimbinkimbi kancane, kodwa kalula nje, ukuze lolu hlobo lwenzeke, ingane kumele izuze uguquko olufanele lwezakhi zofuzo kubazali bobabili.

2. Uhlobo oluyinhloko lwe-Autosomal: Kulolu hlobo, lesi sifo singavela kungakhathaliseki ukuthi ushintsho olufanele lwezakhi zofuzo luzuzwe njengoluvela kumzali oyedwa, noma ukuthi ushintsho olusha lwezakhi zofuzo lwenzeka ngokungahleliwe.

Lezi zinhlobo ezimbili zihlukile komunye nomunye:

• Ngokusho kokuguquka kwezakhi zofuzo okubangela lesi sifo.
• Kuye ngokuthi umuntu uyithola kanjani lesi sifo.
• Ngokwezimpawu ezibonisiwe.
• Kuye ngokuthi isifo sibucayi kangakanani .

I-Robinow Syndrome ingavamile kangakanani?

Empeleni lesi yisimo esingavamile kakhulu . Ngokusho kwamarekhodi ezokwelapha, uhlobo lwe-autosomal recessive lubikwe ezimweni ezingaphansi kuka-200 emhlabeni jikelele. Uhlobo lwe-autosomal dominant lubikwe nasemindenini engaba ngu-50 kuphela. Ngakho-ke ungacabanga ukuthi lokhu kungavamile kangakanani.

Kungani kwenzeka i-Robinow Syndrome?

Isizathu esiyinhloko salokhu ukuguquka kwezakhi zofuzo . Konke emzimbeni wethu kulawulwa izakhi zofuzo. Ngakho-ke, uma kukhona ushintsho noma iphutha kulezi zakhi zofuzo, lezi zimo ziyenzeka.

• I-Autosomal recessive Robin syndrome ibangelwa ukuguquka kwezakhi zofuzo okuthiwa i-ROR2. Ososayensi bakholelwa ukuthi iphrotheni ekhiqizwa yileli gene le-ROR2 isiza amathambo ethu, inhliziyo, kanye nezitho zangasese ukuba zikhule. Ngakho-ke uma kunenkinga ngaleli gene, iphrotheni ayikhi kahle.
• I-Autosomal dominant Robino syndrome ibangelwa izinguquko ezakhiweni eziningana zofuzo (i-FZD2, i-WNT5A, i-DVL1, i-DVL3). Lezi zakhi zofuzo nazo zinegalelo ekukhiqizweni kwamaprotheni ahlobene nokukhula kombungu kwasekuqaleni. Kodwa-ke, imisebenzi yazo ayikaqondakali ngokugcwele.

Kodwa into exakile ukuthi, ngezinye izikhathi le Robinow Syndrome ingenzeka ngisho noma kungekho zinguquko zofuzo ezitholakalayo. Ososayensi abakakazi kahle ukuthi kungani lokhu kwenzeka.

I-Robinow Syndrome izuzwa kanjani njengefa?

Sesikhulume kakade ngezindlela ezimbili eziyinhloko zokuthola lokhu njengefa. Ake sibheke lokho ngemininingwane ethe xaxa.

• Njengesifo esibangelwa ukuvuvukala kwemizwa: Lokhu kwenzeka lapho ingane izuza amakhophi amabili esakhi sofuzo esingajwayelekile - kubo bobabili abazali. Into ebalulekile lapha ukuthi bobabili abazali bangaba ngabathwali besakhi sofuzo, kodwa bangase bangabi nazimpawu . Kufana nokuthi banaso isakhi sofuzo emizimbeni yabo njengemfihlo. Ngakho-ke, uma abathwali ababili abanjalo benengane, cishe kunethuba elingama-25% lokuthi ingane izoba ne-autosomal recessive Robin syndrome. Lokhu kusho ukuthi akuwona wonke umntwana ozozalwa enalesi simo, kodwa kukhona ingozi.
• Isifo Esivame Ukwenzeka: Lokhu kwenzeka lapho ingane izuza ifa lofuzo olungavamile kumzali oyedwa kuphela. Noma, ngezinye izikhathi, ushintsho olusha lwezakhi zofuzo (ukuguquka okuzenzekelayo) lungenzeka ngokungahleliwe, okungukuthi, ngaphandle kwesizathu esibonakalayo, ngenkathi ingane ikhula esibelethweni. Kunzima ukusho ukuthi kungani kwenzeka izinguquko ezinjalo ezingahleliwe.

Ngakho-ke, ngezinye izikhathi umuntu angaba ngumthwali walolu shintsho lwezakhi zofuzo ngaphandle kokwazi. Yingakho ngezinye izikhathi ingane ingaba nalesi simo ngisho noma kungekho muntu emndenini onaso.

Ziyini izimpawu zengane ene-Robinow Syndrome?

Izimpawu zalokhu zingahluka kakhulu kumuntu nomuntu. Kuya ngohlobo lwesifo kanye nobunzima baso. Njengoba sishilo ngaphambili, uhlobo lwe-autosomal recessive luvame ukukhombisa izimpawu ezengeziwe.

Izinto ezingavamile ezibonakala ebusweni:

Izingane ezinalesi simo zinezici ezithile zobuso. Ngezinye izikhathi zibizwa ngokuthi "ama-fetal facies," ngoba afana nezici zobuso zombungu osesiswini. Lezi zici zifaka:

• Ibunzi elibanzi noma elivelele.
• Izindlebe zingase zibekwe ngendlela engavamile, isibonelo, ukuba phansi ekhanda noma zisonteke kancane.
• Ikhanda elikhulu kunejwayelekile (`(Macrocephaly)`) .
• Umsele ojulile (i-philtrum) ophakathi kodebe olungaphezulu mude futhi ujulile.
• Amehlo avelele, avulekile kakhulu.
• Impumulo emfushane, ebheke phezulu.
• Isilevu noma isilevu esincane.
• Umlomo omise okwesikwele.
• Ibhuloho elibanzi noma eligobile ekhaleni (ingxenye ephezulu yekhala).

Izici ezibonakala emathanjeni:

Lezi izinguquko ezinkulu ezibonakala emathanjeni:

• I-scoliosis (i-scoliosis) .
• Ukukhula okubambezelekile kanye nobude obufushane.
• Izinkinga zamazinyo. Isibonelo, amazinyo aminyene, ukukhula ngokweqile kwezinsini, noma ulwanga oluqhekekile.
• Izimbambo zingase zinamathele ndawonye, ​​noma ezinye izimbambo zingase zingabi khona.
• Ukufinyezwa kwamathambo ezingalweni nasemilenzeni.
• Ukufinyezwa kweminwe (izandla nezinyawo) (`(Brachydactyly)`) .

Ezinye izimpawu:

Ngaphezu kwalokhu, ezinye izici zingabonakala:

• Ukulibaziseka kokukhula . Kodwa into ebaluleke kakhulu okufanele uyisho lapha ukuthi izingane eziningi ezine-Robinow Syndrome azikhubazeki ngokwengqondo kamuva ekuphileni. Lokhu kusho ukuthi amakhono azo okufunda angase abe avamile.
• Izinkinga zezinso noma zenhliziyo.
• Izitho zangasese ezingakhuli kahle. Ngezinye izikhathi izitho zangasese zingase zibekwe ngendlela eyenza kube nzima ukubona ngokucacile ukuthi ingane ingowesilisa noma owesifazane.

Iyini i-Osteosclerotic Robinow Syndrome?

Ebantwini abambalwa abane-autosomal dominant Robinow syndrome (ebangelwa ikakhulukazi ukuguquka kwezakhi zofuzo ze-DVL1), amathambo abo angase abe makhulu noma abe nzima kunokujwayelekile . Odokotela babiza lesi simo ngokuthi i-Osteosclerotic Robinow Syndrome.

Itholakala kanjani i-Robinow Syndrome?

Lesi simo sivame ukutholakala ngokuhlola izici zomzimba zengane. Uma udokotela ehlola ingane ngokucophelela, uzohlola izimpawu ezibalwe ngenhla.

"O, dokotela, ubuso bomntwana wami bubukeka buhlukile kancane kwabanye abantwana... Izitho zakhe zomzimba zizwakala zimfushane kancane..." Abanye abazali baqala ngokucabanga ngezinto ezinjengalezi.

Kodwa-ke, ukuqinisekisa ukuxilongwa, kudingeka ukuhlolwa okukhethekile kwezakhi zofuzo (`(ukuhlolwa kwezakhi zofuzo zama-molecule)`) ukuze kubonakale ukuthi kukhona yini ushintsho lwezakhi zofuzo . Lokhu kwenziwa elabhorethri ngokuhlola:

• Isampula yegazi
• Isampula yamathe
• I-swab yesihlathi
• Ngezinye izikhathi ingxenye encane yesikhumba

Uma othile emndenini wakho ene-Robinow Syndrome...

Esimweni esinjalo, odokotela bangase bakucebise ukuthi kuhlolwe umbungu ngalesi simo ngesikhathi sokukhulelwa. Ngenxa yalokhu:

• Ukuhlolwa okubizwa ngokuthi "i-Chorionic villus sampling" kungenziwa ngokuthatha isampula encane ku-placenta.
• Ngaphandle kwalokho, ukuhlolwa kofuzo (`(i-genetic amniocentesis)`) kungenziwa, okuhilela ukuthatha isampula yoketshezi lwe-amniotic oluzungeze umntwana.

Ngenxa yokuthi lezi zivivinyo ziyinkimbinkimbi kancane, zenziwa kuphela ngokwelulekwa ngudokotela.

Ingane ene-Robinow Syndrome yelashwa kanjani?

Ukwelashwa kwalokhu kuyahlukahluka kuye ngomuntu nomuntu . Kuya ngezimpawu zomntwana. Ngokuvamile, iqembu lochwepheshe abavela emikhakheni ehlukene lizophatha ingane. Leli qembu lingafaka:

• Udokotela wenhliziyo – uma unezinkinga zenhliziyo.
• Udokotela wamazinyo, udokotela wamazinyo, noma udokotela ohlinzayo womlomo – wezinkinga zamazinyo nemihlathi.
• Isazi se-Endocrinologist - Ngezinkinga zama-hormone ezihlobene nokukhula kwezitho zangasese.
• Udokotela Wezingane – Hlola impilo yengane iyonke.
• Uchwepheshe wezokwelapha ngokomzimba - kuthuthukisa ukunyakaza nokusebenza komzimba.
• Udokotela wamathambo – wezinkinga zamathambo namalunga.

Lokhu okulandelayo kungenziwa njengokwelashwa:

• Faka amabhandeji noma ama-cast akhethekile ukusekela amathambo athintekile.
• Sebenzisa izinsiza ezikhethekile zamazinyo (izibambo zokubopha kanye nezinye izinto zomlomo) ukulungisa izinkinga zamazinyo.
• Nikeza ukwelashwa ngama-hormone ukuze kukhuthazwe ukukhula noma ukukhula kwezitho zangasese.
• Yenza izivivinyo ezikhethekile zokuqinisa umzimba nokuthuthukisa ukusebenza kwawo.
• Ukuhlinzwa ukuze kulungiswe izinkinga emathanjeni noma ezithweni zangasese.

Ngaphezu kwakho konke lokhu, odokotela baphinde beluleke abantu abane-Robinow Syndrome kanye nemindeni yabo ukuthi bafune ukwelulekwa ngofuzo . Lokhu kungabasiza ukuthi baqonde kangcono lesi simo, ukuthi sizuzwa kanjani njengefa, nokuthi yini okufanele bayiqaphele lapho beba nezingane esikhathini esizayo.

Ingabe i-Robinow Syndrome ingavinjelwa?

Eqinisweni, ngaphandle kokuthi imibhangqwana ihlolwe izakhi zofuzo ngaphambi kokutshalwa kweqanda , ayikho indlela yokuvimbela ukuguquka kwezakhi zofuzo okubangela iRobinow Syndrome. Uma wena noma othile emndenini wakho enalesi simo, into engcono kakhulu ongayenza ukukhuluma nodokotela noma umeluleki wezakhi zofuzo. Bangakweluleka ngamathuba okudlulisela lesi simo ezizukulwaneni ezizayo.

Liyini ikusasa lomuntu one-Robinow Syndrome?

Isibikezelo somuntu onalesi simo siyahlukahluka kuye ngomuntu nomuntu . Kuya ngezimpawu kanye nobunzima bazo. Izinkinga ezingavamile zenhliziyo nezinso zinganciphisa isikhathi sokuphila. Kodwa-ke, abantu abaningi baphila impilo evamile ngokunakekelwa kwezokwelapha okuhle nokusekelwa.

Uma ingane yami ine-Robinow Syndrome, yini enye okufanele ngiyibuze udokotela?

Uma kutholakale ukuthi unalesi simo enganeni yakho, ungabuza odokotela le mibuzo. Le mibuzo izokusiza kakhulu:

• "Dokotela, hlobo luni lwe-Robinow Syndrome ingane yami enalo? " (Okungukuthi, ingabe i-autosomal recessive noma i-dominant).
• " Ingabe kufanele sicabangele ukuhlinzwa ukuze kulungiswe izinkinga emathanjeni noma ezithweni zangasese? "
• "Ingabe ingane yami izoba nokuphazamiseka kokukhula ?"
• "Ingabe unenkinga yenhliziyo noma yezinso ?"
• " Hlobo luni lochwepheshe okufanele sibabone? Kufanele sibabone kangaki ?"
• " Yiziphi izimpawu okufanele ngikhathazeke ngazo kakhulu? Ingabe kufanele ngikuthinte uma ngibona into efana naleyo?"
• " Ingabe lesi simo sizofinyeza isikhathi sokuphila kwengane yami? "
• "Ingabe kukhona amaqembu okusekelana angasisiza sibhekane nalesi simo?"
• "Uyakuncoma ukwelulekwa ngofuzo ?"
• "Ingabe kuwumqondo omuhle ukuthola ukuhlolwa kofuzo komndeni wethu wonke ?"

Khumbula le mibuzo. Ukuyibuza kuzokusiza ukuthi uthole ukwelashwa okungcono kakhulu kanye nokusekelwa kwakho kanye nengane yakho.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Robinow Syndrome iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo. Singabangela ukukhubazeka kwamathambo, izici zobuso ezihlukile, izinkinga zesitho sangasese, nezinye izinkinga. Ungakhathazeki , lokhu akuyona into eyenzeka kubantu abaningi.

Kodwa-ke, uma ucabanga ukuthi ingane yakho inanoma yiziphi zalezi zimpawu, bona udokotela oqeqeshiwe ngokushesha . Ochwepheshe bangalungisa ezinye zeziphazamiso emasakeni nasezithweni zangasese futhi basize ingane yakho isebenze kangcono. Ngokunakekelwa okufanele kwezokwelapha, ukwelashwa ngokomzimba, kanye nothando nokusekelwa komndeni, lezi zingane zingafinyelela amandla azo aphelele.

I- Robino syndrome, izifo zofuzo, ukukhula kwengane, ukukhubazeka kwamathambo, izici zobuso, ukwelulekwa ngofuzo, izifo ezingavamile