Ingaba umntwana wakho uneengxaki ngamathambo namalungu akhe? - Masifunde ngeSpondyloepiphyseal Dysplasia Congenita (SEDC)

Ngaba ugqirha ukuxelele ukuba umntwana wakho omncinci unezitshintsho ezincinci emathanjeni nasemalungeni akhe xa wayezalwa? Okanye ngaba uqaphele ukuba umntwana wakho mfutshane kunabanye abantwana, okanye kukho into eyahlukileyo ngendlela ahamba ngayo? Mhlawumbi neengxaki zokubona. Kuqhelekile ukuba uzive usoyika xa usiva ezi zinto. Kodwa ungakhathazeki. Namhlanje siza kuthetha ngemeko engaqhelekanga kakhulu yemfuza enokubangela ezi mpawu, ebizwa ngokuba yiSpondyloepiphyseal Dysplasia Congenita, okanye ngamafutshane i-SEDC .

Injani imeko le SEDC ngokwenene?

Ngamafutshane, i-SEDC sisifo esingaqhelekanga kakhulu esibangelwa lufuzo . Sichaphazela uphuhliso lwamathambo omntwana wakho, amalungu, kwaye ngamanye amaxesha kwanamehlo. Into ebalulekileyo kukuba ezi ziphumo ziqala esibelekweni kwaye iimpawu zibonakala ekuzalweni . Yiyo loo nto ibizwa ngokuba yi-"congenita," oko kuthetha "ukususela ekuzalweni."

Abantwana abane-SEDC badla ngokubonisa oku kulandelayo:

• Amalungu angahambelani kakuhle kumqolo, amalungu esinqe, kunye namalungu edolo.
• I-Skeletal dysplasia yimeko echaphazela uphuhliso lomntwana ngokubanzi.
• Mfutshane kunobude obuqhelekileyo , ingakumbi esiqwini, entanyeni, nasemalungeni.
• Ukuphazamiseka kokubona nokuva .

Le meko ibizwa ngamanye amagama aliqela, umzekelo:

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

Oku kuqheleke kakhulu kangangokuba kuchaphazela umntu omnye kuphela kwi-100,000 ezizalwa ziphila . Oko kunqabile kakhulu. Okwangoku kukho iimeko ezili-175 kuphela ezixeliweyo kwihlabathi liphela.

Yintoni umahluko phakathi kwe-SEDC kunye ne-SEDT?

Njenge-SEDC, kukho enye imeko ebizwa ngokuba yiSpondyloepiphyseal Dysplasia Tarda (SEDT) . Nangona zombini ezi zivakala zifana, kukho umahluko omncinci.

Igama elithi "Congenita" lithetha "ekuzalweni", elithi "Tarda" lithetha "ukulibaziseka". Oko kukuthi:

• Iimpawu ze-SEDT zihlala zibonakala phakathi kweminyaka eyi-6 neyi-8 ubudala. Nangona kunjalo, i-SEDC ibonakala xa umntu ezalwa.
• I-SEDT ichaphazela abafana kuphela , kodwa i-SEDC inokuchaphazela abafana namantombazana ngokulinganayo.
• Abantu abane-SEDC basemngciphekweni wokuqhekeka kwe-retina, kodwa le ngozi idla ngokuba sezantsi kwi-SEDT.

Yintoni isizathu sokudalwa kwe-SEDC?

Eyona nto ibangela i-SEDC kukuguquka kwejini ethi `COL2A1` . Le jini ethi `COL2A1` inoxanduva lokuvelisa i-Type II collagen emzimbeni wethu.Inceda ekwenzeni iproteni ebizwa ngokuba yi-collagen. I-Collagen ibalulekile ekwakheni izicwili zomzimba wethu. Yiyo enika izicwili zethu amandla kunye nokuma kwazo.

I-collagen yohlobo lwesibini ifumaneka ikakhulu kwi -cartilage nakwinto ebizwa ngokuba yi -vitreous . I-cartilage sisicwili esiqinileyo kodwa esiguquguqukayo esifumaneka kwiindawo ezifana namalungu ethu kunye neendlebe zethu. I-Vitreous yinto efana nejeli efumaneka ngaphakathi kweebhola zamehlo ethu. Ngoko ke ukuba le collagen ayiveliswanga kakuhle, unokucinga ukuba iza kuchaphazela njani iindawo ezifana namathambo ethu, amalungu kunye namehlo.

Amaxesha amaninzi, i-SEDC ibangelwa kukuguquka kwezakhi zofuzo ezintsha (de novo mutation) . Oku kuthetha ukuba akukho mntu kusapho lwakhe wakha waba nesi sifo ngaphambili. I-"de novo mutation" yenzeka xa isidoda neqanda zidibana. Ichaphazela loo mntwana kuphela, hayi abantakwabo mntwana.

Nangona kunjalo, ngamanye amaxesha olu tshintsho lwe-'COL2A1' lunokufunyanwa ngomnye wabazali.

Zithini iimpawu ze-SEDC?

Iimpawu ze-SEDC zinokwahluka kakhulu kumntu nomntu . Abanye abantu banokuba neempawu ezininzi, abanye banokuba nezimbalwa.

Iimpawu eziphambili zomzimba ezinokubonwa zezi:

• Umzimba, intamo, kunye namalungu mafutshane kunezinye.
• Ukuba mfutshane , ubude bayo buphakathi kwe-3 kunye ne-4 feet (0.91 - 1.2 metres) xa ikhulile.
• Isifuba esibanzi, esimile okwemibhobho . Ithambo lesifuba okanye iimbambo zinokuphuma.
• Unyawo oludibeneyo . Nangona kunjalo, ubukhulu kunye nokuma kwezandla neenyawo kunokuba yinto eqhelekileyo.
• Iintlobo ngeentlobo zeegophe zomqolo . Umzekelo, kunokubakho iimeko ezifana nokugoba ecaleni (Scoliosis), ukugoba ngasemva (Kyphosis), ukugoba phambili (Lordosis), okanye indibaniselwano yezi zinto.
• Utshintsho oluthile ebusweni , olufana nokwandiswa kwamehlo, ukuthamba kwamathambo ezihlathi, okanye incakuba eqhekekileyo .
• Iithambo zomqolo ziyathamba okanye zingazinzi .
• Ukujikeleza ngaphakathi kwamalungu esinqe okanye edolweni.

Kukwakho nemiphumo emibi enokwenzeka ngenxa yezi ngxaki zokukhula:

• Imeko yesifo samathambo .
• Ubunzima bokuhamba nokuhamba .
• Ukulahlekelwa kukuva .
• Ukuqina kwamalungu, iintlungu, kunye nokuphuma kwawo .
• I-Sciatica yimeko ebangela iintlungu kumqolo ongezantsi, ezinqeni, nasemva kwemilenze ngenxa yokucinezelwa komthambo.
• Ubunzima bokuphefumla ngenxa yeengxaki zokukhula kwesifuba okanye iimbambo.
• Iingxaki zokubona , ingakumbi ukubona kufutshane kakhulu kunye nokuqhekeka kwe-retina .
• Ngelixa uhambaUkuhambahamba okanye ukuthatha ixesha elide ukufunda ukuhamba.
• Ukuncipha kwethoni yemisipha (iHypotonia) .

Okubalulekileyo kukuba, abantu abane-SEDC badla ngokuba nophuhliso oluhle lwengqondo. Oku kuthetha ukuba iingxaki zokufunda azibonakali rhoqo. Nangona kunjalo, amanyathelo ophuhliso lomzimba anje ngokuhlala nokuhamba asenokungafikelelwa kwiminyaka efanelekileyo.

Ungayichonga njani imeko ye-SEDC?

Ugqirha angayixilonga i-SEDC ngokuqwalasela ngenyameko iimpawu zomzimba zomntwana kunye neziphumo zovavanyo olulandelayo:

• Uvavanyo lwe-genetic - Oku kunokumisela ngokuchanekileyo ukuba kukho utshintsho kwi-gene ye-`COL2A1`.
• Ii-X-reyi zamathambo onke.
• Ezinye iimvavanyo zokujonga imifanekiso, ezifana ne -CT scans (Computed Tomography scans) kunye ne -MRI (Magnetic Resonance Imaging) .

Ngaba ikhona indlela yonyango lwe-SEDC? Ngaba inganyangeka?

Ngelishwa, akukho nyango lwe-SEDC okwangoku . Kodwa ungakhathazeki. Nazi ezinye zezinto onokuzilindela kunyango:

• Ukulawula nokunciphisa iimpawu zakho .
• Ukuba kunokwenzeka, ukulungisa ukukhubazeka kwamathambo ngotyando .
• Ukuthintela iingxaki ezinje ngokwenzakala kunye nokulahlekelwa yimbono.
• Ukuphucula amandla akho kunye nokuhambahamba .

Ziziphi iindlela zonyango ezikhoyo ze-SEDC?

Iindlela zonyango ezinikezelwayo ziyahluka kumntu nomntu , kuxhomekeke ekubeni zeziphi iingxaki onazo kunye nokuba zinzima kangakanani.

Ufanele ujongwe rhoqo ngoogqirha . Ngale ndlela, ukuba kukho naziphi na iingxaki, zinokuchongwa kwaye zinyangwe ngokukhawuleza. Iqela lakho lezonyango lingabandakanya iingcali ezifana nezi:

• Abacebisi ngemfuza
• Iingcali zamehlo - Abo banyanga izifo zamehlo.
• Iingcali zotyando lwamathambo - iingcali zotyando lwamathambo namalungu .
• Iingcali zonyango lomzimba - abantu abanceda ukuphucula amandla, intshukumo, kunye nokuhamba.
• Iingcali zeRheumatology - Oogqirha abanyanga izifo zamathambo, izihlunu kunye namalungu, ezifana ne-arthritis.

Nazi iindlela zokungenelela ezinokwenzeka:

• Izixhobo zokuncedisa ezinceda ekuhambeni, ezifana nezixhobo zokuxhasa imilenze.
• Iiglasi zokulungisa ukuphazamiseka kokubona.
• Amayeza okunciphisa iintlungu zamalungu.
• Ulungiso lwenyama .
• Utyando lokulungisa iingxaki zomqolo.
• Ezinye iingxaki zamalungu, umzekelo utyando lokutshintshwa kwamalungu .
• Utyando lokulungisa ukuqhekeka kwe-retina.
• Unyango lokwenza ukuphefumla kube lula.

Buza kuba njani ubomi nge-SEDC?

Ubomi nge-SEDC buyahluka kakhulu kumntu nomntu , kuxhomekeke kwiimpawu kunye nobunzima bazo.

Le meko inokuchaphazela kakhulu ukuhambahamba kwakho kunye nokukwazi kwakho ukwenza imisebenzi yomzimba. Abantu abaninzi banokufuna unyango kunye notyando ubomi babo bonke.

Kodwa, eyona nto ilungileyo kukuba abantu abane-SEDC baphuhliswe ngokwengqondo kwaye bayakwazi ukuphila ubomi obuqhelekileyo .

Ngaba ikho indlela yokuthintela i-SEDC?

Ngelishwa, akukho ndlela yokuthintela i-SEDC kuba yimfuza. Ukwazi ukuba ezinye iintsapho zine-'COL2A1` gene change kunokwenza zicinge kabini ngokuba nabantwana okanye zifune iingcebiso ngemfuza.

Umnyamekela njani umntu one-SEDC (wena okanye umntwana wakho)?

Ukuba wena okanye umntwana wakho une-SEDC, kubaluleke kakhulu ukulandela la macebiso ukuze ulawule le meko:

• Bona oogqirha bakho ngeentsuku ezicwangcisiweyo, yiya kuzo zonke iimvavanyo kunye namadinga okulandela .
• Musa ukudlala imidlalo edibanisa amalungu omzimba , ingakumbi imisebenzi enokubangela ukwenzakala entloko nasentanyeni, njengoko amalungu engazinzile kwaye anokulimala lula.
• Lumka kakhulu xa ufumana i-anesthesia . Xelela bonke oogqirha bakho ukuba une-SEDC, kuba ezinye zeempawu zakho zomzimba zinokubangela iingxaki ngexesha lotyando.
• Zama ukufumana umcebisi okanye ujoyine iqela lenkxaso ukuze likuncede ujongane nale meko. Oku kuya kukunceda ufunde kumava abanye kwaye kukuncede uzive ngathi awuwedwa.

Yintoni enye ongathanda ukuyibuza ugqirha wakho malunga ne-SEDC?

Ukuba wena okanye umntwana wakho nifunyaniswa ukuba nine-SEDC, kulungile ukubuza oogqirha benu le mibuzo:

• Zeziphi iindawo zomzimba wam ezichaphazeleka yi-SEDC ?
• Zeziphi iingcali endifanele ndizibone?
• Ndifanele ndize kangaphi ukuze ndifumane iimvavanyo zokulandelela kunye nedinga lokubonana nogqirha ?
• Loluphi unyango endiludingayo ?
• Ingaba i-anesthesia ikhuselekile kum ?
• Ngaba le meko isenokufunyanwa ngabantwana bam njengelifa ?
• Ngaba namanye amalungu osapho lwethu kufuneka avavanywe ngokwemfuza ?
• Ngaba kukho amaqela enkxaso owaziyo anokukunceda uhlangabezane nale meko?

Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufumanisa ukuba umntwana wakho unesifo semfuza esifuna unyango. Kodwa khumbula, iqela lakho lezonyango likho ukukunceda. Ngabo, unokufumana amaqela enkxaso apho unokwabelana ngamava akho nabanye abanale meko ingaqhelekanga yemfuza.

Izinto ezibaluleke kakhulu ekufuneka uzikhumbule

Kulungile, ngoko ke, ngokwezinto esizithethileyo nge-SEDC, ezi zezona zinto zibalulekileyo ekufuneka uzikhumbule:

• I-SEDC yimeko engaqhelekanga kakhulu, yemfuza yokuzalwa .
• Oku kuchaphazela kakhulu amathambo, amalungu, kwaye ngamanye amaxesha namehlo .
• Nangona kungekho nyango lupheleleyo loku, kukho iindlela ezahlukeneyo zonyango ezikhoyo zokulawula iimpawu nokuphucula umgangatho wobomi .
• Uphuhliso lwengqondo luqhelekile , kwaye ubomi obuqhelekileyo bunokulindelwa.
• Ulawulo olufanelekileyo lunokufezekiswa ngokulawulwa ngokufanelekileyo kwezonyango, unyango lomzimba, kwaye, ukuba kuyimfuneko, utyando .
• Awuwedwa. Ungafumana uncedo koogqirha nakumaqela enkxaso .

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo, ungathandabuzi ukubuza ugqirha wakho.

i- spondyloepiphyseal dysplasia congenita, i-SEDC, izifo zemfuza, uphuhliso lwamathambo, iingxaki zamalungu, ubude obufutshane, i-collagen, i-COL2A1 gene