Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Costello Syndrome!

Ngezinye izikhathi sikhathazeka kakhulu lapho sizwa ngezifo ezithile izingane zethu ezizoba nazo, akunjalo? Ikakhulukazi uma kuyisifo esingavamile. Esinye isimo esingavamile sofuzo abantu abaningi abangakaze bezwe ngaso, kodwa kubalulekile ukwazi ngaso, yi-Costello Syndrome. Ake sixoxe ngakho ngemininingwane ethe xaxa, kalula. Ungase ucabange ukuthi lokhu akusebenzi kimi, kodwa lolu lwazi luzoba usizo ukusiza othile ngelinye ilanga.

Iyini i-Costello Syndrome?

Kalula nje, i-Costello Syndrome iyisifo esingavamile esithinta izingxenye eziningi zomzimba. Isibonelo, singathinta izinhlelo eziningi zezitho zomzimba, njengobuchopho, amathambo, inhliziyo, amathumbu, imisipha, izinso kanye nesikhumba.

Ake ucabange nje, sinamangqamuzana emzimbeni wethu. Lawa maseli yiwo asikhulisayo futhi asilungise. Ngokuvamile, lawa maseli ayakhula futhi ahlukane ngokwendlela ethile yokulawula. Kodwa-ke, ku-Costello syndrome, kunjengokungathi lawa maseli athola umyalo wokuthi "akhule futhi ahlukane kakhulu, ngokushesha kakhulu." Isizathu salokhu ukuthi kukhona iphutha kumaprotheni alawula ukukhula kwamangqamuzana. Ngale ndlela, amangqamuzana anda ngokungadingekile futhi ngokushesha, futhi kunengozi eyengeziwe yokuthola izimila, zombili ezinomdlavuza kanye nezingezona umdlavuza .

Sivame kangakanani lesi simo?

Eqinisweni, i-Costello syndrome iyisimo esingavamile kakhulu. Kulinganiselwa ukuthi abantu abaphakathi kuka-100 no-1500 kuphela emhlabeni wonke abaphethwe yilesi sifo. Lokhu kusho ukuthi yisimo esingavamile kakhulu.

Ziyini izimpawu ze-Costello syndrome?

Izimpawu ze-Costello syndrome zingahluka kumuntu nomuntu, futhi ubukhulu bezimpawu bungahluka. Lezi zimpawu zithinta izingxenye ezahlukene zomzimba. Ake sibheke izimpawu eziyinhloko ezingabonakala:

• Isifo senhliziyo: Izimo ezifana nokungajwayelekile kwemisipha yenhliziyo (`i-arrhythmia`) kanye nokuqina kwemisipha yenhliziyo (`i-hypertrophic cardiomyopathy`) kungenzeka. Lezi mhlawumbe yizimpawu eziyingozi kakhulu.
• Ubunzima bokuncelisa nokuncelisa: Ikakhulukazi ebuntwaneni, kungaba nzima ngengane ukuncelisa nokukudla. Ngezinye izikhathi kungadingeka ipayipi lokuncelisa .
• Ukugoba komgogodla: Izimo ezinjengokugoba komgogodla eceleni (i-scoliosis) noma ukugoba phambili (i-kyphosis) zingabonakala.
• Ukukhubazeka kwengqondo kanye nokukhubazeka kokukhula kobuchopho: Ukukhubazeka kwengqondo okuncane kuya kokuphakathi kungenzeka. Okunye ukukhubazeka kokukhula kobuchopho, njengokukhubazeka kweChiari, nakho kungabonakala.
• Izinkinga zokubona kanye namazinyo: Kungase kube nokukhubazeka kokubona, izinkinga ngesimo noma ukukhula kwamazinyo.
• Izinguquko zesakhiwo sezinso: Kungase kube nezinguquko ezithile esimweni noma endaweni yezinso.
• Ubuthakathaka bemisipha (hypotonia): Imisipha emzimbeni ingase ikhululeke kancane futhi ibe namandla amancane.

Izici ezibonakalayo zomzimba

Ngaphezu kwalezi zimpawu, ezinye izici ezihlukile zingabonakala ekubukekeni kwezingane kanye nabantu abadala abane-Costello syndrome:

• Ukugoba kakhulu kwezihlanganisi zomunwe nezingalo.
• Ukuba nomsipha we-Achilles oqinile ngemuva kwesithende.
• Inekhanda elikhulu kunelijwayelekile, umlomo omkhulu, izindebe ezigcwele, ikhala elibanzi, kanye nobuso obubukeka buqinile kancane .
• Ukuba nesikhumba esixegayo ezandleni nasezinyaweni (`cutis laxa`).
• Ukukhula kancane ngesikhathi sobuntwana kanye nokulahlekelwa ubude ngemva kokuba umuntu emdala.
• Ezinye izindawo zesikhumba ziba mnyama kunesikhumba esizungezile (i-hyperpigmentation).

Kungani kwakheka izimila kulesi simo?

Njengoba ngishilo ngaphambili, ukuguquka kwezakhi zofuzo okubangela i-Costello syndrome kubangela ukuthi amangqamuzana akhule futhi ahlukane ngokushesha. Lokho kuhlukana ngokweqile kwamangqamuzana yikho okubangela izimila. Lawa mathumba angaba nomdlavuza noma angabi nomdlavuza (angabi yingozi).

Lezi ezinye zezinhlobo ezivame kakhulu zamantongomane:

• I-Papilloma (engeyona umdlavuza): Lezi yizimila ezincane, ezifana nezinsumpa ezingavela eduze kwekhala, umlomo, noma indunu.
• I-Rhabdomyosarcoma (umdlavuza): Lona umdlavuza owenzeka ezicutshini zemisipha ngesikhathi sobuntwana.
• I-Neuroblastoma (umdlavuza): Lona futhi umdlavuza wamaseli ezinzwa ovame kakhulu ezinganeni nakubantu abadala abasebasha.
• I-Transitional cell carcinoma (umdlavuza): Lolu uhlobo lomdlavuza wesinye olwenzeka kubantu abadala.

Yini ebangela i-Costello syndrome?

Imbangela eyinhloko ye-Costello syndrome ukuguquka kwezakhi zofuzo ze-HRAS ezizakhi zofuzo zethu. Le zakhi zofuzo ze-HRAS ikhiqiza iphrotheni ebizwa ngokuthi i-H-Ras. Indima yale phrotheni ukulawula ukukhula kwamaseli nokuhlukana kwamaseli.

Cabanga ngale phrotheni ye-H-Ras njengesibani sokukhanya. Lapho i-gene ye-HRAS ishintshashintsha, isibani "sokuvala" sale phrotheni siyayeka ukusebenza. Kunjengokungathi iphrotheni "ihlala ivuliwe." Ngenxa yalokho, amaseli ahlala ethola izimpawu ezingadingekile "zokukhula kakhudlwana, ukuhlukanisa kakhudlwana." Lesi yisizinda esiyisisekelo se-genetic se-Costello syndrome.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Iningi lamacala e-Costello syndrome abangelwa izinguquko ezintsha zofuzo (`de novo` mutations). Lokhu kusho ukuthi ingane ingahlakulela lesi simo ngokungahleliwe, ngaphandle kokuba noma ubani emndenini abe nalesi simo ngaphambili.

Kodwa, akuvamile kakhuluIzingane zingazuza lesi simo kubazali bazo. Lokhu kubizwa ngokuthi "i-autosomal dominant". Lokhu kusho ukuthi noma ngabe umzali oyedwa kuphela onokuhlukahluka kwezakhi zofuzo, kunethuba elingama-50% lokuthi ingane izosizuza njengefa.

Ubani ongathuthukisa i-Costello syndrome?

Lesi simo singavela kunoma ubani. Njengoba kushiwo ngaphambili, sivame ukwenzeka ngokungahleliwe, ngaphandle komlando womndeni.

Lesi sifo sitholakala kanjani? (Ukuxilongwa)

I-Costello syndrome ivame ukutholakala ebuntwaneni. Udokotela uzoqala ahlole izimpawu zengane ngokucophelela. Ngemuva kwalokho, kuzokwenziwa ukuhlolwa kofuzo ukuqinisekisa ukungalingani kofuzo. Udokotela uzobuza nokuthi ngabe kukhona yini emndenini onomlando wezinkinga zofuzo, njengoba kungavamile ukutholwa njengefa.

Ngezinye izikhathi, izimpawu ze-Costello syndrome zingafana nezezinye izimo zofuzo, njenge -cardiofaciocutaneous syndrome (i-CFC syndrome) kanye ne -Noonan syndrome . Ngakho-ke, ukuhlolwa kofuzo kubalulekile ukuze kutholakale ukuxilongwa okunembile. Yilokho okuvumela lezi zimo ukuthi zihlukaniswe komunye nomunye.

Yiziphi izindlela zokwelapha i-Costello syndrome?

Ngeshwa, ayikho ikhambi eliqinisekile le-Costello syndrome. Ngakho-ke, ukwelashwa kugxile kakhulu ekulawuleni nasekuphatheni izimpawu. Kunezindlela eziningana zokwelapha:

• Ukuhlinzwa: Kungase kudingeke ukuhlinzwa ezintweni ezifana nesifo senhliziyo, izinkinga zokudla, kanye ne-spinal stenosis.
• Imithi: Imithi efana ne -beta-blockers, i-calcium channel blockers, kanye nemithi yokulwa nokuphazamiseka kwenhliziyo inikezwa ukulawula izimpawu zesifo senhliziyo.
• Ukuthuthukisa ukubona: gqoka izibuko noma uhlinzwe amehlo.
• Ukuqinisa imisipha nokwelapha izinkinga zokukhula kwamathambo: ukugqoka izisekelo ezikhethekile (`i-brace`), ukunikeza ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi.
• Izinhlelo Zemfundo Ekhethekile: Ukudluliselwa ezinhlelweni zemfundo ekhethekile ukuze kusekelwe ekufundeni kwengane esikoleni.
• Ukwelashwa kwezimila: Ukuhlinzwa noma ukwelashwa ngamakhemikhali kwezimila ezinomdlavuza. Ukususwa kwezimila ezingezona umdlavuza njenge-papillomas kusetshenziswa iqhwa elomile .

Into ebaluleke kakhulu ukulandela zonke lezi zindlela zokwelapha njengoba kuyalelwe udokotela, ngokuya ngesimo sengane kanye nezimpawu zayo.

Impilo izoba njani ngalesi simo?

I-Costello syndrome iyisimo sokuphila konke.Akukho ukwelashwa okuqondile kwalesi simo. Isikhathi sokuphila somuntu onalesi simo sinqunywa ubukhulu bezimpawu, ikakhulukazi izimpawu zenhliziyo.

Kodwa-ke, uma lesi sifo sitholakala kusenesikhathi futhi ukwelashwa kuqalwa ngokushesha, ingane ingasizwa ukuba iphile impilo enhle. Ukwelashwa akugcini nje ngokulawula izimpawu, kodwa futhi kwelapha izimila ezibangelwa ukuhlukana ngokweqile kwamaseli. Ngakho-ke, kunethemba.

Ingabe i-Costello syndrome ingavinjelwa?

Eqinisweni, kunzima kakhulu ukuvimbela lesi simo. Ngoba, isikhathi esiningi, senzeka ngokungazelelwe, kungalindelekile. Kodwa-ke, uma wazi ukuthi othile emndenini wakho unesifo sofuzo njenge-Costello syndrome, ungathola umbono wengozi yakho ngokukhuluma nodokotela nokuthola ukwelulekwa ngofuzo (`ukwelulekwa ngofuzo`) kanye, uma kudingeka, `ukuhlolwa ngofuzo` .

Ngingayibona nini udokotela?

Uma ingane yakho itholakale ine-Costello syndrome futhi ikhombisa izimpawu ezithinta indlela yayo yokuphila evamile , ikakhulukazi uma inenkinga yokudla noma ibhekene nokwehluleka kokukhula, bona udokotela ngokushesha.

Kukhona nezikhathi lapho kufanele uye egumbini lezimo eziphuthumayo, ikakhulukazi uma unezinye zalezi zimpawu ezihlobene nenhliziyo:

• Ukushaya kwenhliziyo okusheshayo noma okuhamba kancane ngendlela engavamile.
• Ubunzima bokuphefumula.
• Ubuhlungu besifuba.
• Ukuzizwa unesizungu noma unekhanda elibuhlungu.

Uma ubona lezi zimpawu, ungalibali.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma uthola ukuthi ingane yakho inesifo esingavamile kangaka, kuyinto evamile ukuba nemibuzo eminingi. Kubalulekile ukubuza udokotela wakho imibuzo efana nale:

• Yimiphi imiphumela emibi yokwelashwa okunikezwayo?
• Ingabe ingane yami idinga ukuhlinzwa ?
• Kufanele ngize kangaki ukuzohlolwa ukuze ngiqaphe izimpawu zengane yami?
• Ingabe ingane yami idinga izinsizakalo zochwepheshe ? (isib. isazi senhliziyo, isazi sezakhi zofuzo)

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ukhungathekile futhi ukhathazekile lapho uthola ukuthi ingane yakho inesifo esingavamile sofuzo njenge-Costello Syndrome. Kuyafana nanoma ubani. Kodwa khumbula, awuwedwa. Odokotela nabasebenzi bezempilo benza konke okusemandleni abo ukunikeza ingane yakho ukwelashwa okungcono kakhulu nokunakekelwa abakudingayo.

Into ebaluleke kakhulu ukuqaphela izimpawu zengane yakho njalo. Qaphela ikakhulukazi noma yiziphi izimila ezincane ezingase zibangelwe ukuhlukana kwamaseli ngokweqile. Uma zitholakala futhi zelashwa ngokushesha, umphumela uba ngcono.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma uneminye imibuzo, ungangabazi ukukhuluma nodokotela.

I- Costello Syndrome, izifo zofuzo, izifo ezingavamile, impilo yengane, i-HRAS gene, ingozi yomdlavuza, izimpawu