Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Shprintzen-Goldberg Syndrome (SGS)

Namuhla sizokhuluma ngesimo esingavamile sofuzo, okusho ukuthi akuwona wonke umuntu osibonayo. Sibizwa ngokuthi i-Shprintzen-Goldberg Syndrome (SGS). Kungenzeka ukuthi awukaze uzwe ngaleli gama. Kodwa kubaluleke kakhulu ukuqaphela izimo ezinjalo, ngoba lapho-ke singazibona ngokushesha izimpawu futhi sithole iseluleko sezokwelapha esidingekayo.

Iyini i-Shprintzen-Goldberg Syndrome (SGS)?

Kalula nje, i-Shprintzen-Goldberg Syndrome (SGS) yisimo esingavamile sofuzo esithinta izingxenye ezahlukene zomzimba wethu. Ngokuyinhloko sibangela ingane ukuba ibe nezici ezithile zobuso ezingavamile, ukuhlangana kwamathambo ekhanda ngaphambi kwesikhathi (lokhu kubizwa ngokuthi "i-Craniosynostosis"), izinguquko ezahlukahlukene zamathambo, izinkinga zobuchopho kanye nesistimu yezinzwa (isibonelo, ukubambezeleka ekuthuthukisweni kwengqondo), kanye nezinye izinkinga ezithile zenhliziyo.

Kunamanye amagama amabili asetshenziswa kulesi simo, i-``Marfanoid-craniosynostosis syndrome'' kanye ne-``Shprintzen-Goldberg craniosynostosis syndrome''. Nakuba amagama angase abonakale eyinkimbinkimbi kancane, isihluthulelo ukuqonda ukuthi lesi yisimo sofuzo.

Ivame kangakanani i-SGS?

I-Shprintzen-Goldberg Syndrome empeleni iyisimo esingavamile kakhulu. Kuze kube manje, amarekhodi ezokwelapha akhulume kuphela ngamacala angaphansi kuka-50 alesi sifo. Lokho kusho ukuthi bambalwa kakhulu abantu abanalesi sifo emhlabeni.

Enye into ngalokhu ukuthi izimpawu ze-SGS zifana kancane nezinye izimo ezimbili zofuzo ezibizwa ngokuthi i-Marfan Syndrome kanye ne-Loeys-Dietz Syndrome, ngakho-ke kungaba nzima ngezinye izikhathi kodokotela ukuyixilonga ngokunembile. Ngakho-ke, kunzima ukusho ukuthi bangaki abantu abanalesi simo ngempela.

Uyini umehluko phakathi kwe-Shprintzen-Goldberg Syndrome, i-Marfan Syndrome, kanye ne-Loeys-Dietz Syndrome?

Nakuba izimpawu zalezi zimo ezintathu zingase zibonakale zifana, zibangelwa ukushintshashintsha kwezakhi zofuzo okuhlukile . Ngokukhethekile, abantu abane-SGS banamathuba amaningi okuba nokukhubazeka kwengqondo. Baphinde babe nengozi ephansi yesifo senhliziyo kunalabo abane-Marfan Syndrome kanye ne-Loeys-Dietz Syndrome. Kodwa khumbula, zonke lezi zinto zingahluka kumuntu nomuntu.

Yiziphi izimbangela zeShprintzen-Goldberg Syndrome (SGS)?

Ezimweni eziningi, imbangela eyinhloko ye-SGS ukuguquka kwezakhi zofuzo okuthiwa `(SKI)` emzimbeni wethu. Le zakhi zofuzo ze-SKI ikhiqiza iphrotheni esiza ezinqubweni eziningi ezibalulekile emaseli ethu, njengokukhula, ukuhlukana, ukunyakaza, ukuvuthwa, nokufa.

Cabanga nje, njengoba le phrotheni ye-SKI ikhona ezicutshini ezahlukahlukene emzimbeni wethu, uma kukhona ushintsho kulesi sakhi sofuzo, lungathinta izingxenye ezahlukene zomzimba. Yingakho sibona izimpawu ezahlukahlukene ku-SGS.

Kodwa-ke, ezinye iziguli ze-SGS azinawo uguquko lwezakhi zofuzo lwe-SKI, ngakho ososayensi basaphenya ngezinye izimbangela ezingaba khona zalesi simo ezimweni ezinjalo.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Ezimweni eziningi, i-Shprintzen-Goldberg Syndrome ayizuzwa njengefa.Lokhu kuguquka kwezakhi zofuzo kuvame ukwenzeka ngokungahleliwe, okungukuthi, ngemva kokukhulelwa, ngesikhathi sokukhulelwa. Ngakho-ke, abantu abaningi abanalesi simo abanawo umlando womndeni walesi sifo.

Kodwa-ke, akuvamile kakhulu , lesi simo singadluliselwa kusuka kumzali siye enganeni. Uma sidluliselwa, sisephethini elilawulayo le-autosomal. Kalula nje, lokhu kusho ukuthi noma ingane izuza ikhophi yesakhi sofuzo esiguquliwe kumzali oyedwa kuphela, ingane isengakwazi ukuba nalesi simo.

Ziyini izimpawu ze-Shprintzen-Goldberg Syndrome (SGS)?

Izimpawu ze-SGS zingahluka kakhulu kumuntu nomuntu. Abanye abantu banezimpawu ezincane kakhulu, kanti abanye bangase babe nezimpawu ezinzima. Lezi zimpawu zingathinta izingxenye ezahlukene zomzimba.

Izimpawu zokuhlangana kwamathambo ekhanda ngaphambi kwesikhathi (`(Craniosynostosis)`):

Uma amathambo ekhanda lomntwana ehlangana ngaphambi kwesikhathi, kungaba sesibelethweni noma ekuzalweni, isimo esibizwa ngokuthi "i-Craniosynostosis", izimpawu ezifana nalezi:

• Ikhanda elide nelincane.
• Ibanga elikhudlwana phakathi kwamehlo, amehlo ephuma phambili noma ethambekele phansi.
• Ulwanga oluphakeme noluncane (ingxenye ephezulu yomlomo).
• Ibunzi eliphakeme, elivelele.
• Ingwegwe encane engezansi.
• Izindlebe zibekwe phansi kunokujwayelekile futhi ngezinye izikhathi zijikiswa emuva.

Okunye ukukhubazeka kwamathambo:

Ngaphandle kwalokhu, ezinye izinguquko emathanjeni zingabonakala njenge:

• Ukunyakaza okukhulu kwamalunga.
• Izinyawo ze-Clubfoot.
• Isifuba siphumele phambili noma sishone phakathi (i-Pectus excavatum/carinatum).
• I-Scoliosis.
• Iminwe egobile unomphela (`(Camptodactyly)`).
• Kude kunezingalo nemilenze evamile.
• Iminwe emide, emincane (`(Arachnodactyly)`). Abanye bathi ifana nemilenze yesicabucabu.

Abanye abantu bangase babe nezimpawu ezifana nalezi:

• Ukukhubazeka kobuchopho, isibonelo, uketshezi oluningi ebuchosheni (i-hydrocephalus).
• Ukulibaziseka kokukhula kanye nokukhubazeka kwengqondo okuncane kuya kokuphakathi.
• Izinkinga zesistimu yokugaya ukudla, isibonelo ukuqunjelwa noma ukulibaziseka kokukhipha isisu (i-Gastroparesis).
• Ama-hernias esisu noma esinqeni (`(ama-Hernias)`).
• Ukuncipha kwesikhumba, njengokungathi kubonakala kuso, kanye nokulunywa kalula.
• Ubunzima bokuphefumula.
• Ubuthakathaka bemisipha (`(Hypotonia)`). Lokhu kusho isimo lapho umzimba uzizwa ungaphili.

Izimpawu zenhliziyo ezingavamile:

Lokhu akwenzeki kuwo wonke umuntu, kodwa abanye abantu bangase babe nezinkinga zenhliziyo ezifana nalezi:

• I-Aortic aneurysm (ubuthakathaka bodonga lwe-aorta).
• Igazi ligeleza libuyele emuva ngoba ivalvu ye-aorta ayivaleki kahle (i-Aorta regurgitation).
• Ukwandiswa kwempande ye-aorta (`(Ukwanda kwempande ye-aorta)`).
• Igazi elivuzayo lisuka ku-valve yenhliziyo (`(ukuvuselelwa kwe-valve ye-Mitral)`).
• Ukwehla kwevalvu ye-mitral (ukungasebenzi kahle kwevalvu ye-mitral yenhliziyo).

Into ebalulekile ukuthi akuzona zonke iziguli ze-SGS ezinazo zonke lezi zimpawu. Abanye abantu bangase babe nezimbalwa zazo, futhi ubukhulu bezimpawu bungahluka.

I-Shprintzen-Goldberg Syndrome (SGS) itholakala kanjani?

Ukuxilonga i-SGS kungaba yinselele kancane. Njengoba ngishilo ngaphambili, ngoba kuyisimo esingavamile futhi singadidaniswa ne-Marfan Syndrome noma i-Loeys-Dietz Syndrome, ukuxilongwa ngezinye izikhathi kungabambezeleka.

Udokotela wenza ukuxilongwa ngokusekelwe kakhulu ezimpawini nasezimpawini. Lokhu kusho ukuhlolwa ngokucophelela kokubukeka komzimba kwengane, ukukhula kwayo, kanye nezinye izinkinga zempilo. Ngezinye izikhathi ukuhlolwa kofuzo kungaqinisekisa ukuguquka kofuzo lwe-SKI. Kodwa-ke, ngenxa yokuthi abantu abangenalo lolu shintsho lofuzo bangaba ne-SGS, okwamanje azikho ezinye izivivinyo ezithile ezingasiza ekuxilongweni.

Iphathwa kanjani i-Shprintzen-Goldberg Syndrome (SGS)?

Ngeshwa, okwamanje akukho ukwelashwa okuqondile kwalesi simo. Umgomo oyinhloko wokwelapha i-Shprintzen-Goldberg Syndrome ukuphatha izimpawu nokusiza isiguli siphile impilo enhle ngangokunokwenzeka.

Izinketho zokwelapha zingahluka, kuye ngezimpawu zesiguli. Nazi izibonelo ezimbalwa:

• Ukwenza ukuhamba kube lula ngokufaka izisekelo zemilenze noma zangemuva (`(izisekelo)`).
• Ukusebenzisa ipayipi lokuphakela, uma kudingeka, ukuqinisekisa ukudla okunempilo.
• Ukunikeza imithi yokwelapha izifo zenhliziyo.
• Ukuhlinzwa ukuze kulungiswe izinkinga zenhliziyo noma zamathambo ekhanda, emgogodleni, noma esifubeni.
• Uma indlela yokungena komoya ivaliwe, kungenziwa imbobo yokuhlinzwa (i-tracheostomy) ngaphambili entanyeni.

Futhi, udokotela wakho angase akuncome lokhu kuhlolwa kanye ngonyaka noma njalo eminyakeni emibili, njengoba kungakusiza ukuthi ubone ukuthi kukhona yini izinguquko esimweni sakho:

• Ukuhlolwa kokuqina kwamathambo.
• Ukuhlolwa kwe-Echocardiogram ukuqapha inhliziyo.
• Ukuhlolwa kwe-magnetic resonance angiography (MRA) noma i-computed tomography angiography (CTA) ukuhlola imithambo yegazi.
• Hlola noma yiziphi izinguquko emathanjeni (ama-X-ray).

Kungadingeka ithimba lochwepheshe ukuze belaphe umuntu one-Shprintzen-Goldberg Syndrome. Leli qembu lingafaka ochwepheshe abafana nalaba:

• Udokotela wenhliziyo
• Udokotela ohlinzayo we-cranioso (udokotela ohlinzayo wamathambo ekhanda nasebusweni)
• Isazi sezakhi zofuzo
• Udokotela ohlinzayo wengqondo kanye nesistimu yezinzwa (`(udokotela ohlinzayo wezinzwa)`)
• Uchwepheshe wezokwelapha emsebenzini - Umuntu osiza abantu ukwenza imisebenzi yansuku zonke kalula.
• Udokotela wamehlo - wezinkinga zokubona (isb. i-myopia).
• Udokotela ohlinzayo womlomo - Ngezinkinga ezihlobene namazinyo nemihlathi.
• Udokotela ohlinza amathambo (udokotela ohlinza amathambo, amalunga kanye nomgogodla)
• Udokotela wezingane
• Udokotela wezokwelapha ngokomzimba - Umuntu osiza ekuthuthukiseni ukunyakaza nokusebenza komzimba.
• Isazi sokusebenza kwengqondo
• Isazi se-X-ray (`(Isazi se-X-ray)`) - sezithombe zezokwelapha.
• Umeluleki wezokukhuluma (`(Umeluleki wezokukhuluma)`) - wezinkinga zokukhuluma.

Kungosizo lwabo bonke laba bantu lapho singanikeza khona ukwelashwa nokunakekelwa okungcono kakhulu esigulini.

Ingabe i-Shprintzen-Goldberg Syndrome (SGS) ingavinjelwa?

Okwamanje ayikho indlela yokuvimbela ukuguquka kwezakhi zofuzo okubangela i-Shprintzen-Goldberg Syndrome. Lokhu kungenxa yokuthi kuvame ukwenzeka ngokungahleliwe. Futhi, ososayensi abakaqiniseki ukuthi yiziphi ezinye izinto ezibangela lokhu ngaphandle kwezakhi zofuzo ze-SKI.

Iyini isikhathi sokuphila nge-Shprintzen-Goldberg Syndrome (SGS)?

Isikhathi sokuphila (isibikezelo) somuntu one-SGS sincike ebunzimeni besimo. Ezimweni ezinezimpawu ezincane, isikhathi sokuphila singase singathinteki kakhulu. Kodwa-ke, ezimweni lapho ubuchopho, inhliziyo, noma uhlelo lokugaya ukudla kuthinteka kakhulu, isikhathi sokuphila singancishiswa.

Yini enye okufanele ngiyibuze udokotela wami nge-Shprintzen-Goldberg Syndrome (SGS)?

Uma uthola ukuthi ingane yakho ine-Shprintzen-Goldberg Syndrome, ungase ube nemibuzo eminingi. Ngezikhathi ezinjalo, kuwumqondo omuhle ukubuza ithimba lakho lezokwelapha imibuzo efana nale:

• Ingabe lokhu kuguquka kwezakhi zofuzo kuzuzwe njengefa, noma kwenzeka ngengozi?
• Yimaphi amasistimu emzimbeni wengane athinta lesi simo?
• Yikuphi ukwelashwa ingane yami edingayo?
• Yiziphi izimpawu noma izimpawu ezidinga usizo oluphuthumayo lwezokwelapha?
• Ingabe ingane yami izoba nokukhubazeka kokukhula noma ukukhubazeka kwengqondo?
• Ingabe lesi simo sizofinyeza isikhathi sokuphila kwengane yami?
• Hlobo luni lochwepheshe okufanele sibabone? Kangaki?
• Ingabe amathambo engane yami, inhliziyo, imithambo yegazi kanye nobuchopho kufanele kuhlolwe njalo?
• Ingabe akhona amaqembu okusekelana angasisiza siphile nalesi simo?
• Ingabe uncoma ukwelulekwa noma ukuhlolwa kwezakhi zofuzo?

Nakuba i-Shprintzen-Goldberg Syndrome iyisifo esingavamile esibangelwa izakhi zofuzo, kubalulekile ukuqaphela futhi ufune iseluleko sezokwelapha ngokushesha okukhulu. Uma ucabanga ukuthi ingane yakho inalezi zimpawu, sicela uxhumane nochwepheshe ukuze uthole ukuxilongwa okunembile.

Okokugcina, khumbula lokhu (Umyalezo Wokuya Ekhaya)

I-Shprintzen-Goldberg Syndrome (SGS) yisimo esingavamile kakhulu sofuzo esingabangela izinguquko ebusweni bengane, emathanjeni, ebuchosheni, futhi mhlawumbe ngisho nasenhliziyweni.Lokhu kungazuzwa njengefa, noma kungenzeka ngokungahleliwe.

Nakuba kungekho ikhambi, kunezindlela zokwelapha ezahlukahlukene ezitholakalayo zokusiza ukulawula izimpawu. Ngokusekelwa yithimba lochwepheshe, ingane yakho ingaphila kahle ngangokunokwenzeka. Uma usola ukuthi ingane yakho inalezi zimpawu, ungesabi ukukhuluma nodokotela. Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kungenza umehluko omkhulu. Khumbula, awuwedwa. Kukhona amaqembu okusekela kanye nezinsiza ezitholakalayo zokusiza imindeni ebhekene nalezi zimo.

I- Shprintzen-Goldberg Syndrome, i-SGS, Izifo Zofuzo, i-Craniosynostosis, i-SKI Gene, Ukukhubazeka Kwamathambo, Ukulibaziseka Kokukhula, Izifo Ezingavamile