Ingabe ingane yakho inezinkinga ngamathambo namalunga ayo? - Ake sifunde nge-Spondyloepiphyseal Dysplasia Congenita (SEDC)

Ingabe udokotela ukutshelile ukuthi ingane yakho encane inezinguquko ezincane emathanjeni nasemalungeni ayo lapho izalwa? Noma uke waphawula ukuthi ingane yakho imfushane kunezinye izingane, noma ukuthi kukhona okuhlukile ngokuhamba kwayo? Mhlawumbe ngisho nezinkinga zokubona. Kuvamile ukuzizwa wesaba uma uzwa lezi zinto. Kodwa ungakhathazeki. Namuhla sizokhuluma ngesimo esingavamile kakhulu sezakhi zofuzo esingabangela lezi zimpawu, esibizwa ngokuthi i-Spondyloepiphyseal Dysplasia Congenita, noma i-SEDC ngamafuphi.

Lolu hlobo luni lwesimo ngempela lwe-SEDC?

Kalula nje, i-SEDC iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo . Sithinta ukukhula kwamathambo, amalunga, futhi ngezinye izikhathi ngisho namehlo engane yakho. Into ebalulekile ukuthi le miphumela iqala esibelethweni futhi izimpawu zibonakala lapho izalwa . Yingakho ibizwa ngokuthi "congenita," okusho ukuthi "kusukela ekuzalweni."

Izingane ezine-SEDC zivame ukubonisa okulandelayo:

• Amalunga angaqondani kahle emgogodleni, emalungeni ezinqeni, nasemalungeni edolo.
• I-Skeletal dysplasia yisimo esithinta ukukhula kwengane iyonke.
• Mfushane kunobude obujwayelekile , ikakhulukazi esiqwini, entanyeni, nasemalungeni.
• Ukukhubazeka kokubona nokuzwa .

Lesi simo sibizwa ngamanye amagama amaningana, isibonelo:

• I-SED congenita (i-SED congenita)
• I-SED, uhlobo lokuzalwa
• I-SEDc
• I-Spondyloepiphyseal dysplasia, uhlobo lokuzalwa

Lokhu kuvame kakhulu kangangokuthi kuthinta cishe oyedwa kuphela kwabangu-100,000 abazalwa bephila . Lokho akuvamile kakhulu. Okwamanje kunezimo ezingu-175 kuphela ezibikiwe emhlabeni jikelele.

Uyini umehluko phakathi kwe-SEDC ne-SEDT?

Njenge-SEDC, kunesinye isimo esibizwa ngokuthi i-Spondyloepiphyseal Dysplasia Tarda (SEDT) . Nakuba zombili lezi zizwakala zifana, kunezimo ezincane ezihlukile.

Igama elithi "Congenita" lisho "ekuzalweni", elithi "Tarda" lisho "ukubambezeleka". Okusho ukuthi:

• Izimpawu ze-SEDT zivame ukuvela phakathi kweminyaka engu-6 no-8. Kodwa-ke, i-SEDC iyabonakala lapho izalwa.
• I-SEDT ithinta abafana kuphela , kodwa i-SEDC ingathinta abafana namantombazane ngokulinganayo.
• Abantu abane-SEDC basengozini yokuqhekeka kwe-retina, kodwa le ngozi ngokuvamile iphansi ku-SEDT.

Iyini imbangela yokudalwa kwe-SEDC?

Imbangela eyinhloko ye-SEDC ukuguquka kwezakhi zofuzo i-`COL2A1` . Le zakhi zofuzo i-`COL2A1` inesibopho sokukhiqizwa kwe-collagen yohlobo lwesibili emzimbeni wethu.Kuyasiza ekwenzeni iphrotheni ebizwa ngokuthi i-collagen. I-Collagen ibalulekile ekwakheni izicubu ezixhumeneyo emizimbeni yethu. Yilokho okunikeza izicubu zethu amandla nesimo sazo.

I-collagen yohlobo lwesibili itholakala ngokuyinhloko ku -cartilage kanye nento ebizwa ngokuthi i-vitreous . I-cartilage iyizicubu ezixhumeneyo ezinamandla kodwa eziguquguqukayo ezitholakala ezindaweni ezifana namalunga ethu nama-earlobes. I-Vitreous iyinto efana nejeli etholakala ngaphakathi kwamehlo ethu. Ngakho-ke uma le collagen ingakhiqizwa kahle, ungacabanga ukuthi izothinta kanjani izindawo ezifana namathambo ethu, amalunga, namehlo.

Ngokuvamile, i-SEDC ibangelwa ukuguquka kwezakhi zofuzo okusha (de novo mutation) . Lokhu kusho ukuthi akekho emndenini oke waba nalesi sifo ngaphambili. "De novo mutation" yenzeka lapho isidoda neqanda kuhlangana. Kuthinta kuphela lowo mntwana, hhayi abafowabo nodadewabo bomntwana.

Kodwa-ke, ngezinye izikhathi lokhu kuguqulwa kwezakhi zofuzo 'ze-COL2A1' kungazuzwa njengefa komunye wabazali.

Ziyini izimpawu ze-SEDC?

Izimpawu ze-SEDC zingahluka kakhulu kumuntu nomuntu . Abanye abantu bangase babe nezimpawu eziningi, abanye bangase babe nezimbalwa.

Izici eziyinhloko zomzimba ezingabonakala yilezi:

• Isiqu, intamo, kanye nemilenze kufushane kunezinye.
• Njengoba imfushane , ukuphakama kwayo kuphakathi kwamamitha angu-0.91 kuya kwangu-1.2 uma isikhulile.
• Isifuba esibanzi, esimise okwebhakede . Ithambo lesifuba noma izimbambo zingase ziphume.
• Izinyawo ezigoqekayo . Kodwa-ke, ubukhulu nesimo sezandla nezinyawo kungaba okuvamile.
• Ukugoba okuhlukahlukene komgogodla . Isibonelo, kungase kube nezimo ezifana nokugoba okuseceleni (Scoliosis), ukugoba okungemuva (Kyphosis), ukugoba okuya phambili (Lordosis), noma inhlanganisela yalokhu.
• Ezinye izinguquko ebusweni , njengokwanda kwamehlo, ukuthamba kwamathambo ezihlathi, noma ulwanga oluqhekekile .
• Ama-vertebrae omgogodla ayaba yisicaba noma angazinzile .
• Ukujikeleza kwangaphakathi kwezinqe noma amalunga edolo.

Kukhona nemiphumela emibi engaba khona ngenxa yalezi zinkinga zokukhula:

• Isimo se -arthritis .
• Ubunzima bokuhamba nokunyakaza .
• Ukulahlekelwa ukuzwa .
• Ukuqina kwamalunga, ubuhlungu, kanye nokukhumuka kwawo .
• I-Sciatica yisimo esibangela ubuhlungu emhlane ongezansi, ezinqeni, nangemuva kwemilenze ngenxa yokucindezelwa kwenzwa.
• Ubunzima bokuphefumula ngenxa yezinkinga zokukhula kwesifuba noma izimbambo.
• Izinkinga zokubona , ikakhulukazi ukubona eduze okukhulu kanye nokuqhekeka kwe-retina .
• Ngesikhathi uhambaUkuhamba ngezinyawo noma ukuthatha isikhathi eside ukufunda ukuhamba.
• Ukwehla kwethoni yemisipha (i-Hypotonia) .

Okubalulekile, abantu abane-SEDC bavame ukuba nentuthuko enhle yengqondo. Lokhu kusho ukuthi ukukhubazeka kokufunda akuvamile ukubonakala. Kodwa-ke, izinyathelo zokukhula ngokomzimba njengokuhlala nokuhamba zingase zingafinyelelwa eminyakeni efanele.

Ungasibona kanjani isimo se-SEDC?

Udokotela angakwazi ukuthola i-SEDC ngokubheka ngokucophelela izimpawu zomzimba zengane kanye nemiphumela yokuhlolwa okulandelayo:

• Ukuhlolwa kwezakhi zofuzo - Lokhu kunganquma ngokunembile ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-`COL2A1`.
• Ama-X-ray alo lonke uhlaka lwamathambo.
• Ezinye izivivinyo zokuthwebula izithombe, njenge -CT scans (Computed Tomography scans) kanye ne -MRI (Magnetic Resonance Imaging) .

Ingabe ikhona indlela yokwelapha i-SEDC? Ingabe ingelapheka?

Ngeshwa, alikho ikhambi le-SEDC okwamanje . Kodwa ungakhathazeki. Nazi ezinye izinto ongazilindela ekwelashweni:

• Ukulawula nokunciphisa izimpawu zakho .
• Uma kungenzeka, ukulungisa ukukhubazeka kwamathambo ngokuhlinzwa .
• Ukuvimbela izinkinga ezifana nokulimala kanye nokulahlekelwa umbono.
• Ukuthuthukisa amandla akho kanye nokuhambahamba .

Yiziphi izindlela zokwelapha ezitholakalayo ze-SEDC?

Izindlela zokwelapha ezinikezwayo ziyahlukahluka kumuntu nomuntu , kuye ngokuthi yiziphi izinkinga ezithile onazo nokuthi zinzima kangakanani.

Kufanele uqashwe njalo odokotela . Ngale ndlela, uma kuvela izinkinga, zingatholakala futhi zelashwe ngokushesha. Ithimba lakho lezokwelapha lingafaka ochwepheshe abanjengalaba:

• Abeluleki bezofuzo
• Odokotela bamehlo - Labo abaphatha izifo zamehlo.
• Odokotela abahlinza amathambo - ochwepheshe ekuhlinzeni amathambo namalunga .
• Abelaphi bomzimba - abantu abasiza ekuthuthukiseni amandla, ukunyakaza, kanye nokuhamba.
• Odokotela be-Rheumatologists - Odokotela abelapha izifo zamathambo, imisipha, kanye namalunga, njenge-arthritis.

Lezi yizindlela zokungenelela ezingaba khona:

• Amadivayisi okusiza asisiza ekuhambeni, njengezinsimbi zokuqinisa imilenze.
• Izibuko zokulungisa ukukhubazeka kokubona.
• Imithi yokunciphisa ubuhlungu bamalunga.
• Ukwelashwa ngokomzimba .
• Ukuhlinzwa ukuze kulungiswe ukukhubazeka komgogodla.
• Ezinye izinkinga zamalunga, isibonelo ukuhlinzwa kokufakelwa kwamalunga .
• Ukuhlinzwa ukuze kulungiswe ukuhlukana kwe-retina.
• Ukwelashwa ukuze kube lula ukuphefumula.

Impilo izoba njani nge-SEDC?

Impilo ene-SEDC iyahlukahluka kakhulu kumuntu nomuntu , kuye ngezimpawu kanye nobunzima bazo.

Lesi simo singathinta kakhulu ukuhamba kwakho kanye nekhono lakho lokwenza imisebenzi yomzimba. Abantu abaningi bangadinga ukwelashwa nokuhlinzwa impilo yonke.

Kodwa, into engcono kakhulu ukuthi abantu abane-SEDC banokuthuthuka kwengqondo okuvamile futhi bayakwazi ukuphila impilo ejwayelekile .

Ingabe ikhona indlela yokuvimbela i-SEDC?

Ngeshwa, ayikho indlela yokuvimbela i-SEDC ngoba iyizakhi zofuzo. Ukwazi ukuthi eminye imindeni ine-'COL2A1' gene mutation kungenza icabange kabili ngokuba nezingane noma ifune ukwelulekwa ngofuzo.

Umnakekela kanjani umuntu (wena noma ingane yakho) one-SEDC?

Uma wena noma ingane yakho ine-SEDC, kubaluleke kakhulu ukulandela lawa macebiso ukuze uphathe lesi simo:

• Bona odokotela bakho ngezinsuku ezihleliwe, ube khona kuzo zonke izivivinyo kanye nama-aphoyintimenti okulandelela .
• Gwema imidlalo yokuthintana , ikakhulukazi imisebenzi engabangela ukulimala kwekhanda nentamo, njengoba amalunga engazinzile futhi angalimala kalula.
• Qaphela kakhulu lapho uthola i-anesthesia . Tshela bonke odokotela bakho ukuthi une-SEDC, njengoba ezinye zezici zakho zomzimba zingabangela izinkinga ngesikhathi sokuhlinzwa.
• Zama ukuthola umeluleki noma ujoyine iqembu lokusekela ukuze likusize ubhekane nalesi simo. Lokhu kuzokusiza ufunde kokuhlangenwe nakho kwabanye futhi kukusize uzizwe sengathi awuwedwa.

Yini enye ongathanda ukuyibuza udokotela wakho mayelana ne-SEDC?

Uma wena noma ingane yakho nitholakale ninesifo i-SEDC, kuwumqondo omuhle ukubuza odokotela bakho le mibuzo:

• Yiziphi izingxenye zomzimba wami ezithinta i-SEDC ?
• Obani ochwepheshe okufanele ngibabone?
• Kufanele ngize kangaki ukuze ngithole izivivinyo zokulandelela kanye nama-aphoyintimenti ?
• Yiziphi izindlela zokwelapha engizidingayo ?
• Ingabe i-anesthesia iphephile kimi ?
• Ingabe lesi simo singazuzwa njengefa yizingane zami ?
• Ingabe amanye amalungu omndeni wethu kufanele ahlolwe izakhi zofuzo ?
• Ingabe kukhona amaqembu okusekelana owaziyo angakusiza ukubhekana nalesi simo?

Kuvamile ukuzizwa wesaba futhi ukhathazekile lapho uthola ukuthi ingane yakho inesifo sofuzo esidinga ukwelashwa. Kodwa khumbula, ithimba lakho lezokwelapha likhona ukukusiza. Ngabo, ungathola namaqembu okusekelana lapho ungabelana khona ngolwazi lwakho nabanye abanalesi simo sofuzo esingavamile.

Izinto ezibaluleke kakhulu okufanele uzikhumbule

Kulungile, ngakho-ke, kusukela kulokho esikhulume ngakho nge-SEDC, lezi yizinto ezibaluleke kakhulu okudingeka uzikhumbule:

• I-SEDC iyisifo esingavamile kakhulu, esibangelwa izakhi zofuzo .
• Lokhu kuthinta kakhulu amathambo, amalunga, futhi ngezinye izikhathi namehlo .
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha ezahlukahlukene ezitholakalayo zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila .
• Ukuthuthukiswa kwengqondo kuyinto evamile , futhi isikhathi sokuphila esijwayelekile singalindelwa.
• Ukuphathwa okuhle kungatholakala ngokuqashwa okufanele kwezokwelapha, ukwelashwa ngokomzimba, kanye nokuhlinzwa uma kudingeka .
• Awuwedwa. Ungathola usizo kodokotela kanye namaqembu okusekela .

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo, ungangabazi ukubuza udokotela wakho.

i- spondyloepiphyseal dysplasia congenita, i-SEDC, izifo zofuzo, ukukhula kwamathambo, izinkinga zamalunga, ubude obufushane, i-collagen, i-COL2A1 gene