Ngaba umntwana wakho unazo ezi mpawu? Masifunde ngeShprintzen-Goldberg Syndrome (SGS)

Namhlanje siza kuthetha ngemeko engaqhelekanga yemfuza, nto leyo ethetha ukuba ayingomntu wonke oyibonayo. Ibizwa ngokuba yiShprintzen-Goldberg Syndrome (SGS). Usenokuba awukaze uve ngeli gama. Kodwa kubaluleke kakhulu ukuba uqaphele iimeko ezinjalo, kuba ngoko sinokuzibona ngokukhawuleza iimpawu size sifumane iingcebiso zonyango ezifunekayo.

Yintoni iShprintzen-Goldberg Syndrome (SGS)?

Ngamafutshane, iShprintzen-Goldberg Syndrome (SGS) sisifo esingaqhelekanga semfuza esichaphazela amalungu ahlukeneyo omzimba wethu. Sibangela ukuba umntwana abe neempawu ezingaqhelekanga zobuso, ukudibana kwamathambo ekhanda ngaphambi kwexesha (oku kubizwa ngokuba yi-"Craniosynostosis"), utshintsho olwahlukeneyo lwamathambo, iingxaki zengqondo kunye nenkqubo yemithambo-luvo (umzekelo, ukulibaziseka ekuphuhlisweni kwengqondo), kwaye ngamanye amaxesha iziphene ezithile zentliziyo.

Kukho amanye amagama amabini asetyenziswayo kule meko, ``Marfanoid-craniosynostosis syndrome'' kunye ``Shprintzen-Goldberg craniosynostosis syndrome''. Nangona la magama esenokubonakala entsonkothile, into ephambili kukuqonda ukuba le yimeko yemfuza.

Ixhaphake kangakanani i-SGS?

I-Shprintzen-Goldberg Syndrome ngokwenene yimeko engaqhelekanga kakhulu. Okwangoku, iingxelo zonyango zikhankanye iimeko ezingaphantsi kwama-50 zesi sifo. Oko kuthetha ukuba bambalwa abantu abanale sifo ehlabathini.

Enye into ngale nto kukuba iimpawu ze-SGS zifana kancinci nezinye iimeko ezimbini zemfuza ezibizwa ngokuba yiMarfan Syndrome kunye neLoeys-Dietz Syndrome, ngoko ke ngamanye amaxesha kunokuba nzima koogqirha ukuyixilonga ngokuchanekileyo. Ke ngoko, kunzima ukutsho ngqo ukuba bangaphi abantu abanale meko.

Yintoni umahluko phakathi kweShprintzen-Goldberg Syndrome, Marfan Syndrome, kunye neLoeys-Dietz Syndrome?

Nangona iimpawu zezi meko zintathu zinokubonakala zifana, zibangelwa ziinguqu ezahlukeneyo zemfuza . Ngokukodwa, abantu abane-SGS banamathuba amaninzi okuba nokukhubazeka kwengqondo. Banomngcipheko omncinci wesifo sentliziyo kunabo bane-Marfan Syndrome kunye ne-Loeys-Dietz Syndrome. Kodwa khumbula, zonke ezi zinto zinokuhluka kumntu nomntu.

Zithini izizathu zeShprintzen-Goldberg Syndrome (SGS)?

Kwiimeko ezininzi, imbangela ephambili ye-SGS kukuguquka kwejini ebizwa ngokuba yi-`(SKI)` emzimbeni wethu. Le jini ye-SKI ivelisa iproteni enceda kwiinkqubo ezininzi ezibalulekileyo kwiiseli zethu, ezinje ngokukhula, ukwahlukana, ukuhamba, ukuvuthwa, kunye nokufa.

Khawucinge nje, ekubeni le protein ye-SKI ikhona kwiithishu ezahlukeneyo emzimbeni wethu, ukuba kukho utshintsho kule gene, lunokuchaphazela iindawo ezahlukeneyo zomzimba. Yiyo loo nto sibona iimpawu ezahlukeneyo kwi-SGS.

Nangona kunjalo, abanye abaguli be-SGS abanayo i-SKI gene mutation, ngoko ke izazinzulu zisaphanda ezinye izizathu ezinokubakho zeso simo kwiimeko ezinjalo.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Kwiimeko ezininzi, iShprintzen-Goldberg Syndrome ayizuzwa njengelifa.Olu tshintsho lwemfuza ludla ngokwenzeka ngokungacwangciswanga, oko kukuthi, emva kokumitha, ngexesha lesigaba sokuzalwa komntwana. Ngenxa yoko, abantu abaninzi abanale meko abanayo imbali yentsapho yesi sifo.

Nangona kunjalo, kunqabile kakhulu ukuba le meko idluliselwe kumzali iye emntwaneni. Ukuba idluliselwa, ikwindlela elawulayo ye-autosomal. Ngamafutshane, oku kuthetha ukuba nokuba umntwana ufumana ikopi yejini eguquliweyo kumzali omnye kuphela, umntwana usenokukhula nale meko.

Zithini iimpawu zeShprintzen-Goldberg Syndrome (SGS)?

Iimpawu ze-SGS zinokwahluka kakhulu kumntu nomntu. Abanye abantu baneempawu ezibuthathaka kakhulu, ngelixa abanye benokuba neempawu eziqatha. Ezi mpawu zinokuchaphazela amalungu ahlukeneyo omzimba.

Iimpawu zokudibana kwamathambo ekhakayi ngaphambi kwexesha (`(Craniosynostosis)`):

Ukuba amathambo entloko yomntwana adibana ngaphambi kwexesha, nokuba kusesibelekweni okanye ekuzalweni, imeko ebizwa ngokuba yi-"Craniosynostosis", iimpawu ezifana nezi:

• Intloko ende nemxinwa.
• Umgama okhulayo phakathi kwamehlo, amehlo ephuma phambili okanye ethe tyaba ezantsi.
• Inkalakatha ende nemxinwa (phezulu komlomo).
• Ibunzi eliphakamileyo nelibonakalayo.
• Ihoko encinci esezantsi.
• Iindlebe zibekwe phantsi kunesiqhelo kwaye ngamanye amaxesha zijikiswa umva.

Ezinye iingxaki zamathambo:

Ngaphandle koku, kukho ezinye iinguqulelo kwi-skeleton ezifana nezi:

• Ukunyakaza okukhulu kwamalungu.
• Unyawo lweClub.
• Isifuba siphumele phambili okanye sitshone ngaphakathi (Pectus excavatum/carinatum).
• I-Scoliosis.
• Iminwe egobileyo ngokusisigxina (`(Camptodactyly)`).
• Zinde kuneengalo nemilenze eqhelekileyo.
• Iminwe emide, ebhityileyo (`(Arachnodactyly)`). Abanye bathi ifana nemilenze yesigcawu.

Abanye abantu banokufumana iimpawu ezifana nezi:

• Ukuphazamiseka kwengqondo, umzekelo, ulwelo olugqithisileyo engqondweni (i-hydrocephalus).
• Ukulibaziseka kophuhliso kunye nokukhubazeka kwengqondo okuncinci ukuya kokuphakathi.
• Iingxaki zenkqubo yokugaya ukutya, umzekelo ukuqhina okanye ukulibaziseka kokukhupha isisu (iGastroparesis).
• Iihernia zesisu okanye ze-pelvic (`(Hernias)`).
• Ukuncitshiswa kolusu, ngokungathi lubonakala ngalo, kunye nokukrweleka okulula.
• Ubunzima bokuphefumla.
• Ubuthathaka bemisipha (`(Hypotonia)`). Oku kuthetha imeko apho umzimba uziva ungenabomi.

Iimpawu zentliziyo ezingaqhelekanga:

Oku akwenzeki kuwo wonke umntu, kodwa abanye abantu banokuba neengxaki zentliziyo ezifana nezi:

• I-Aortic aneurysm (ukubuthathaka kodonga lwe-aorta).
• Igazi libuyela umva kuba ivalvu ye-aortic ayivali kakuhle (i-Aortic regurgitation).
• Ukwandiswa kwengcambu ye-aorta (`(Ukwanda kwengcambu ye-Aorta)`).
• Igazi eliphuma kwivalvu yentliziyo (`(Mitral valve regurgitation)`).
• Ukuhla kwevalvu ye-mitral (ukungasebenzi kakuhle kwevalvu ye-mitral yentliziyo).

Into ebalulekileyo kukuba ayingabo bonke abaguli be-SGS abanazo zonke ezi mpawu. Abanye abantu banokuba nazo ezimbalwa kuphela, kwaye ubukhali beempawu bungahluka.

Ifunyanwa njani iShprintzen-Goldberg Syndrome (SGS)?

Ukuchonga i-SGS kunokuba nzima kancinci. Njengoko benditshilo ngaphambili, kuba yimeko engaqhelekanga kwaye inokubhidaniswa neMarfan Syndrome okanye iLoeys-Dietz Syndrome, ukuxilongwa ngamanye amaxesha kunokulibaziseka.

Ugqirha wenza uxilongo ngokusekelwe kwiimpawu neempawu. Oku kuthetha uhlolo olucokisekileyo lwenkangeleko yomzimba yomntwana, uphuhliso lwakhe, kunye nezinye iingxaki zempilo. Ngamanye amaxesha uvavanyo lwemfuza lunokuqinisekisa utshintsho lwemfuza lwe-SKI. Nangona kunjalo, ngenxa yokuba abantu abangenalo olu tshintsho lwemfuza banokuba ne-SGS, okwangoku akukho vavanyo luthile olunokunceda ekuxilongweni.

Inyangwa njani iShprintzen-Goldberg Syndrome (SGS)?

Ngelishwa, okwangoku akukho nyango lukhethekileyo lwale meko. Injongo ephambili yonyango lweShprintzen-Goldberg Syndrome kukulawula iimpawu nokunceda isigulana siphile ubomi obulungileyo kangangoko kunokwenzeka.

Iindlela zonyango zinokwahluka, kuxhomekeke kwiimpawu zesigulana. Nazi imizekelo embalwa:

• Ukwenza ukuhamba kube lula ngokunxiba izixhasi zemilenze okanye umqolo (`(izixhasi)`).
• Ukusebenzisa ityhubhu yokutyisa, ukuba kuyimfuneko, ukuqinisekisa ukutya okufanelekileyo.
• Ukunika amayeza okunyanga izifo zentliziyo.
• Utyando lokulungisa iziphene zentliziyo okanye iingxaki zamathambo ekhayeni, emgogodleni, okanye esifubeni.
• Ukuba indlela yokungena komoya ivaliwe, kunokwenziwa umngxuma wotyando (tracheostomy) ngaphambili entanyeni.

Kwakhona, ugqirha wakho unokucebisa olu vavanyo kube kanye ngonyaka okanye rhoqo emva kweminyaka emibini, njengoko lunokukunceda ubone ukuba kukho naluphi na utshintsho kwimeko yakho:

• Uvavanyo loxinano lwamathambo.
• Uvavanyo lwe-Echocardiogram lokujonga intliziyo.
• Uvavanyo lwe-magnetic resonance angiography (MRA) okanye i-computed tomography angiography (CTA) ukuhlola imithambo yegazi.
• Jonga naluphi na utshintsho kwi-skeleton (ii-X-ray).

Kusenokufuneka iqela leengcali ukunyanga umntu oneShprintzen-Goldberg Syndrome. Eli qela linokuquka iingcali ezifana nezi:

• Ingcali yentliziyo
• Ugqirha wotyando lwentloko (ugqirha wamathambo entloko nasebusweni)
• Ingcali yemfuza
• Ugqirha wobuchopho kunye nenkqubo yemithambo-luvo (`(Neurosurgeon)`)
• Ingcali yezonyango zomsebenzi - Umntu onceda abantu ukuba benze imisebenzi yemihla ngemihla ngokulula.
• Ingcali yamehlo - kwiingxaki zokubona (umz. i-myopia).
• Ugqirha womlomo - Ngeengxaki ezinxulumene namazinyo nemihlathi.
• Ugqirha wamathambo (ugqirha wamathambo, amalungu kunye nomqolo)
• Ugqirha wabantwana
• Ingcali yezonyango - Umntu onceda ukuphucula intshukumo kunye nokusebenza komzimba.
• Ingcali yezengqondo
• Ingcali ye-radiology (`(Ingcali ye-radiology)`) - yemifanekiso yezonyango.
• Ingcali yonyango lokuthetha (`(Ingcali yonyango lokuthetha)`) - kwiingxaki zokuthetha.

Kungoncedo lwabo bonke aba bantu apho sinokubonelela ngonyango olungcono kunye nokhathalelo kumguli.

Ngaba iShprintzen-Goldberg Syndrome (SGS) ingathintelwa?

Okwangoku akukho ndlela yokuthintela utshintsho lwezakhi zofuzo olubangela iShprintzen-Goldberg Syndrome. Oku kungenxa yokuba luhlala lusenzeka ngokungacwangciswanga. Kwakhona, izazinzulu azikaqiniseki ukuba zeziphi ezinye izinto ezinegalelo kuyo ngaphandle kwe-SKI gene.

Ingakanani iminyaka yokuphila ngeShprintzen-Goldberg Syndrome (SGS)?

Ixesha lokuphila komntu one-SGS lixhomekeke kubukhali bemeko. Kwiimeko ezineempawu ezincinci, ixesha lokuphila lisenokungachaphazeleki kakhulu. Nangona kunjalo, kwiimeko apho ingqondo, intliziyo, okanye inkqubo yokugaya ukutya zichaphazeleka kakhulu, ixesha lokuphila linokuncitshiswa.

Yintoni enye endifanele ndiyibuze ugqirha wam malunga neShprintzen-Goldberg Syndrome (SGS)?

Xa ufumanisa ukuba umntwana wakho uneShprintzen-Goldberg Syndrome, usenokuba nemibuzo emininzi. Ngamaxesha anjalo, kungcono ukubuza iqela lakho lezonyango imibuzo efana nale:

• Ingaba olu tshintsho lwemfuza lufunyenwe njengelifa, okanye lwenzeka ngengozi?
• Zeziphi iinkqubo emzimbeni womntwana ezichaphazeleka yile meko?
• Luluphi unyango olufunekayo kumntwana wam?
• Ziziphi iimpawu okanye iimpawu ezifuna unyango olungxamisekileyo?
• Ngaba umntwana wam uza kuba nobunzima bokukhula okanye ukukhubazeka kwengqondo?
• Ngaba le meko iya kuyinciphisa ixesha lobomi bomntwana wam?
• Ngabaphi abantu abangoochwephesha esifanele sibabone? Kangaphi?
• Ngaba amathambo, intliziyo, imithambo yegazi kunye nengqondo yomntwana wam kufuneka zihlolwe rhoqo?
• Ngaba kukho amaqela enkxaso anokusinceda siphile nale meko?
• Ngaba ucebisa iingcebiso okanye uvavanyo lwemfuza?

Nangona iShprintzen-Goldberg Syndrome ingaqhelekanga kwimfuza, kubalulekile ukuyiqonda kwaye ufumane iingcebiso zonyango ngokukhawuleza. Ukuba ucinga ukuba umntwana wakho unezi mpawu, nceda udibane nengcali ukuze ufumane ukuxilongwa ngokuchanekileyo.

Okokugqibela, khumbula oku (Umyalezo Wokuya Ekhaya)

I-Shprintzen-Goldberg Syndrome (SGS) yimeko engaqhelekanga kakhulu yemfuza enokubangela utshintsho ebusweni bomntwana, emathanjeni, engqondweni, mhlawumbi nasentliziyweni.Oku kungenziwa njengelifa, okanye kungenzeka ngokungacwangciswanga.

Nangona kungekho nyango, kukho iindlela ezahlukeneyo zonyango ezifumanekayo ukunceda ukulawula iimpawu. Ngoncedo lweqela leengcali, umntwana wakho angaphila ubomi obude kangangoko kunokwenzeka. Ukuba ukrokrela ukuba umntwana wakho unale mpawu, ungoyiki ukuthetha nogqirha. Ukuxilongwa kwangoko kunye nonyango olufanelekileyo kunokwenza umahluko omkhulu. Khumbula, awuwedwa. Kukho amaqela enkxaso kunye nezixhobo ezifumanekayo ukunceda iintsapho ezijongene nezi meko.

Isifo sikaShprintzen -Goldberg, i-SGS, izifo zemfuza, i-Craniosynostosis, i-SKI Gene, ukungaqheleki kwamathambo, ukulibaziseka kophuhliso, izifo ezingaqhelekanga