Uyazazi yini lezi zimo ezingavamile? I-Cardiofaciocutaneous Syndrome

Wake wezwa nge-Cardiofaciocutaneous Syndrome, noma i-CFC Syndrome njengoba siyibiza ngamafuphi? Kuyisimo esingavamile, okusho ukuthi akusona isifo esithinta wonke umuntu. Kodwa singathinta izingxenye eziningana zomzimba wethu. Sithinta kakhulu inhliziyo (cardio-), ubuso (facio-), kanye nesikhumba nezinwele (cutaneous). Akukhona lokho kuphela, kodwa lesi simo singabangela nokubambezeleka kokukhula nezinkinga zokukhula kwengqondo ezinganeni. Ngakho-ke, ake sixoxe ngakho ngokuningiliziwe, akunjalo?

Iyini ngempela i-Cardiofaciocutaneous Syndrome (CFC Syndrome)?

Kalula nje, lesi yisimo sofuzo . Okusho ukuthi, sibangelwa ushintsho (ukuguquka) kwezakhi zofuzo zethu. Lesi yisifo esiseqenjini lezifo ezibizwa ngokuthi i-'RASopathy'. Ama-'RASopathies' ayiqembu lezimo zofuzo ezibangelwa yiphutha 'endleleni ye-RAS', indlela amaseli emzimbeni wethu axhumana ngayo. Cabanga ngakho njengamaseli emzimbeni wethu ashintshana imiyalezo emincane. Uma lokhu kushintshana kwemiyalezo kungenzeki kahle, kungavela izinkinga ezahlukahlukene.

Ngokuphathelene nokuthi i-CFC syndrome ivame kangakanani, empeleni ayivamile kakhulu . Eminye imibiko iphakamisa ukuthi lesi simo sithinta cishe ingane eyodwa kwezingu-810,000. Amarekhodi ezokwelapha akhuluma ngamacala ambalwa kuphela. Kodwa-ke, ososayensi bakholelwa ukuthi inani lingaba phezulu kakhulu. Lokhu kungenxa yokuthi ngezinye izikhathi izimpawu zincane kakhulu kangangokuthi azitholakali. I-CFC syndrome ingadidaniswa nezinye izimo zofuzo.

Yiziphi izimpawu ezingaba khona ze-CFC syndrome?

Izimpawu zingahluka kakhulu kumuntu nomuntu. Abanye abantu banezimpawu ezincane kakhulu, kanti abanye bangase babe nezimpawu ezinzima kakhulu. Futhi, lezi zimpawu zingathinta izingxenye ezahlukene zomzimba.

Izimpawu ezihlobene nenhliziyo

Ngokuvamile, izingane ezine-CFC syndrome zizalwa zinezinkinga ezithile zenhliziyo . Lezi zibizwa ngokuthi ukukhubazeka kwenhliziyo okuzelwe nakho. Lezi zimpawu ngezinye izikhathi zingabonakala ekuzalweni, noma zingase zivele kamuva. Nazi izibonelo ezimbalwa:

• Ukuba nevalvu yenhliziyo engavamile ethinta ukugeleza kwegazi kusuka enhliziyweni kuya emaphashini.
• Ukububula kwenhliziyo umsindo ongajwayelekile ozwakala enhliziyweni.
• Imbobo ephakathi kwamakamelo amabili aphansi enhliziyo (i-Ventricular Septal Defect).
• Ukuba nembobo phakathi kwamakamelo amabili aphezulu enhliziyo (i-Atrial Septal Defect).
• Ukuqina noma ukuqina kwemisipha yenhliziyo (i-Hypertrophic Cardiomyopathy).

Izimpawu ezihlobene nesikhumba nezinwele

Cishe wonke umuntu onalesi simo uzobona izinguquko ezithile esikhumbeni nasezinweleni zakhe.

• Ukuba nesikhumba esomile nesiqinile . Kungase kungabi bushelelezi njengesikhumba somntwana, kodwa kunalokho komile futhi kuqinile.
• Izimpawu zokuzalwa ezimnyama (nevi)Ukubona okwengeziwe.
• Ukuncipha noma ukulahlekelwa izinkophe noma amashiya .
• Izinwele ziba mncane, ziqhekeke, zome, futhi zibe bushelelezi .
• Ukuvela kwamaqhubu amancane afana nama-blister (i-Keratosis Pilaris) ezingalweni, emilenzeni nasebusweni.
• Isikhumba esishwabene ezintendeni nasezinyaweni.

Izinguquko ekubukekeni kobuso

Ezinye izici ezithile zingabonakala nasekubukekeni kobuso bezingane ezinalesi sifo.

• Ubuso obukhulu, obude .
• Ukugoba kwamehlo (i-Ptosis).
• Ibanga elikhudlwana phakathi kwamehlo kanye nokuthambekela phansi kwamehlo.
• Ibunzi liphakeme futhi lincane nhlangothi zombili.
• Ukuba nekhanda elikhulu kunelijwayelekile (i-Macrocephaly).
• Izindlebe zingaphansi kwezinga elijwayelekile.
• Impumulo emfushane.
• Isilevu esincane.

Ezinye izinkinga izingane ezingase zibe nazo

Izingane ezinalesi simo zingase zibhekane nezinye izinkinga:

• Ukubambezeleka kokukhula kanye nezinkinga zokukhula kwengqondo (ngokuvamile eziphakathi kuya kwezinzima).
• Ubunzima bokudla .
• Uketshezi oluningi ebuchosheni (i-Hydrocephalus).
• Ukwehla kwamazinga e-hormone yokukhula.
• Ukuquleka .
• Ukukhuluphala kanye nokwehluleka ukukhula (Ukwehluleka ukukhula).
• Izinkinga zokubona .
• Ubuthakathaka bemisipha kanye nokuxega (i-Hypotonia).

Yini ebangela i-CFC syndrome?

I-CFC syndrome ibangelwa ukuguquka kwezakhi zofuzo (ushintsho) kwenye yezakhi zofuzo eziningana. Lezi zakhi zofuzo yilezi:

• I-gene ethi `BRAF` (evame ukuthinteka kakhulu)
• Izakhi zofuzo ze-`MAP2K1` kanye ne-`MAP2K2` (zesibili ezivame kakhulu)
• I-gene ethi `KRAS` (engavamile)

Lezi zakhi zofuzo ziyala imizimba yethu ukuthi yenze amaprotheni abalulekile ekuxhumaneni kwamaseli. Le nqubo yokuxhumana ibizwa ngokuthi 'i-RAS/MAPK pathway'. Le nqubo ibalulekile ekuthuthukisweni kombungu.

Kodwa-ke, abanye abantu abatholakale benesifo se-CFC abatholakalanga ukuthi banazo lezi zinguquko zofuzo. Ososayensi bakholelwa ukuthi abantu abanjalo bangase babe ne-'Costello Syndrome' noma i-'Noonan Syndrome'.

Ingabe i-CFC syndrome idluliselwa ngofuzo?

Ezimweni eziningi, i-CFC syndrome ayizuzwa njengefa . Lokhu kuguquka kwezakhi zofuzo kuvame ukwenzeka ngokuzenzekelayo ngesikhathi sokukhula kwengane esanda kuzalwa. Iningi labantu abanalesi simo abanawo umlando womndeni walesi sifo.

Kodwa-ke, akuvamile kakhulu ukuthi lesi sifo sitholakale sisuka kwesinye isizukulwane siye kwesinye. Uma sitholakala sisuka kwesinye, sitholakala ngendlela ethi "Autosomal Dominant". Lokhu kusho ukuthi noma ingane ithola ikhophi eyodwa yesakhi sofuzo esiguquliwe kumzali oyedwa ongenaso lesi sifo kodwa ophethe isakhi sofuzo esiguquliwe, ingane isengasithola lesi sifo.

Ungasibona kanjani lesi simo?

Ngezinye izikhathi i-CFC syndrome itholakala ngaphambi kokuba umntwana azalwe, ngesikhathi sokukhulelwa,I-ultrasound yangaphambi kokubeletha inganikeza izinkomba, njengokwanda kwenani le-amniotic fluid elizungeze umbungu, noma ikhanda nomzimba wombungu ukuba kukhulu kunalokho obekulindelwe.

Kodwa-ke, lesi simo sivame ukutholakala ebuntwaneni . Uma ingane yakho inezimpawu zomzimba ezihlobene nalesi simo, udokotela angase acele ukuhlolwa okufana nalokhu:

• Hlola ukusebenza kwenhliziyo yengane ngokuhlola okufana ne-'Electrocardiogram (ECG)' , 'Echocardiogram' , noma 'Cardiac Catheterization' .
• Ukuhlolwa Kwezakhi Zofuzo Zama-Molecular ukuze kutholakale izinguquko zofuzo. Lokhu ngokuvamile kudinga isampula yegazi noma isampula yamaseli athathwe ngaphakathi kwesifuba.
• Ukuhlolwa kwe-X-ray, i-CT scan, i-MRI, noma i-ultrasound ukuze kubonakale ukuthi kukhona yini ukuthuthukiswa okungavamile enhliziyweni yengane, ebuchosheni, noma kwezinye izitho zomzimba.
• Hlola amaza obuchopho kanye nomsebenzi wokuxhuzula nge-'Stereoelectroencephalography (SEEG)' .
• Hlola ingaphakathi lamehlo engane ngokuhlolwa kokubona okufana ne -'Ophthalmoscopy' .

Iphathwa kanjani i-CFC syndrome?

Eqinisweni, ayikho ikhambi eliqondile le-CFC syndrome. Izingane ezinalesi simo zidinga ukwesekwa yithimba lodokotela abanezipilo ezahlukahlukene, okuhlanganisa:

• Udokotela wenhliziyo
• Udokotela Wesikhumba
• Isazi se-Endocrinologist (udokotela ochwepheshe ohlelweni lwe-endocrine)
• Udokotela ochwepheshe ohlelweni lokugaya ukudla (i-Gastroenterologist)
• Isazi sezakhi zofuzo
• Udokotela wezinzwa
• Uchwepheshe Wezokwelapha Emsebenzini
• Udokotela wamehlo
• Udokotela wezingane
• Udokotela Wezokwelapha Umzimba
• Udokotela Wemisebe
• Uchwepheshe Wezokukhuluma

Izinketho zokwelapha ziyahlukahluka kakhulu kuye ngezidingo zengane ngayinye. Kodwa-ke, zingase zihlanganise:

• Ama-antibiotic okuvimbela ukutheleleka, ikakhulukazi uma ingane inezinkinga zenhliziyo.
• Lawula ukuquleka ngemithi yokulwa nokuquleka .
• Ukufaka ipayipi lokuncelisa ngekhala lengane noma ngesikhumba sesisu ukuze kutholakale amakhalori nezakhamzimba.
• Thuthukisa ukubona ngezibuko, ama-contact lens, noma ukuhlinzwa .
• Ukudla okunama-calorie amaningi nokunomsoco .
• Ama-lotion noma amafutha okwelapha isikhumba esomile.
• Imithi yokuthuthukisa ukusebenza kwenhliziyo yengane noma yokuqeda izinkinga zesistimu yokugaya ukudla.
• Imithi yokwandisa amazinga e-hormone yokukhula.
• Ukubeka i-shunt ukuze kususwe uketshezi oluningi oluzungeze ubuchopho bengane futhi kuncishiswe ingcindezi.
• Ukuhlinzwa ukuze kulungiswe izinkinga zenhliziyo. Ezinye izingane zingadinga ukuhlinzwa kwenhliziyo ukuze kulungiswe ivalvu yamaphaphu engavamile.

Iyini isikhathi sokuphila nge-CFC syndrome?

Isikhathi sokuphila somuntu onesifo se-CFC sincike ebunzimeni bezimpawu zakhe. Kodwa-ke, ngokuxilongwa nokwelashwa okufanele, iningi labantu abanalesi simo liphila impilo ejwayelekile.

Into ebaluleke kakhulu ukunikeza ingane ukwesekwa kanye nokwelashwa ekudingayo ngesikhathi esifanele, ukuze iphile impilo engcono kakhulu.

Ingabe i-CFC syndrome ingavinjelwa?

Ngenxa yokuthi lesi simo sibangelwa ukuguquka kwezakhi zofuzo okungahleliwe, ayikho indlela yokuvimbela ukuguquka okuholela ku-CFC syndrome.

Yini enye okufanele ngiyibuze udokotela wami nge-CFC syndrome?

Uma ingane yakho ine-CFC syndrome, kuwumqondo omuhle ukubuza udokotela wakho imibuzo efana nale:

• Ingabe lokhu kungaba yi-'Costello Syndrome' noma i-'Noonan Syndrome'? Kungani usho/ungasho lokho?
• Ingabe lokhu kuguquka kwezakhi zofuzo kuzuzwe njengefa noma kwenzeke ngengozi?
• Ingabe ingane yami inenkinga yenhliziyo?
• Ingabe ingane yami inoketshezi oluningi engqondweni yayo?
• Ingabe ingane yami izohlaselwa yisifo sokuwa?
• Ingabe lesi simo sizothinta umbono wengane yami?
• Ingabe ingane yami izodinga ukuhlinzwa noma imithi?
• Siqinisekisa kanjani ukuthi ingane yami ithola ukudla okunomsoco ekudingayo?
• Ingabe kukhona izimpawu ezikhethekile okufanele ngazise udokotela ngazo?
• Kunzima kangakanani ukukhubazeka kwengqondo?
• Yibaphi ochwepheshe okufanele sibabone futhi kangaki?
• Ingabe akhona amaqembu okusekelana angasisiza ukubhekana nalesi simo?
• Ingabe uncoma ukwelulekwa ngofuzo?

Uyini umehluko phakathi kwe-CFC syndrome, i-Costello syndrome, kanye ne-Noonan syndrome?

Izimpawu ze-CFC syndrome zifana kakhulu neze-Costello Syndrome kanye ne-Noonan Syndrome. Ukuhlukanisa lezi zimo ezintathu zofuzo kungaba nzima, ikakhulukazi ebuntwaneni.

Kodwa-ke, zonke lezi zimo ezintathu zibangelwa ukushintshashintsha kwezakhi zofuzo okuhlukile . Futhi, ngokungafani ne-CFC syndrome, umuntu one-Costello Syndrome usengozini enkulu yokuba nomdlavuza .

Uma uqala ukuzwa ukuthi ingane yakho inesimo sofuzo njenge-Cardiofaciocutaneous Syndrome (CFC Syndrome), ungase ukhungatheke kakhulu yimizwa. Uhambo lokuthola isifo lungaba yizikhathi eziningi zokuqokwa. Futhi ngakho konke ukwesekwa ingane yakho ekudingayo, izinsuku zakho zingaba matasa. Kodwa kubalulekile ukuzinika isikhathi futhi uzame ukulawula ukucindezeleka kwakho.Thola izindlela zokuxhumana nabanye abazali bezingane ezinezimo ezingavamile. Kunemiphakathi eminingi eku-inthanethi, futhi odokotela bengane yakho bangase bazi ngokuxhumana okunjalo.

Umlayezo Wokuya Nawe Ekhaya

I-Cardiofaciocutaneous syndrome (i-CFC Syndrome) iyisimo esingavamile kodwa esingaba yingozi kakhulu ngokwezakhi zofuzo. Ungesabi uma kutholakala ukuthi unalesi simo.

• Lesi simo singathinta inhliziyo, ubuso, isikhumba, izinwele kanye nokukhula komntwana.
• Nakuba kungekho ikhambi elithile, kunezindlela zokwelapha ezahlukahlukene kanye nokusekelwa kwezokwelapha okukhethekile okungasiza ekulawuleni izimpawu .
• Iningi lezingane lingaphila impilo evamile ngokuphathwa nokunakekelwa okufanele.
• Awuwedwa. Thola usizo kodokotela, abeluleki, kanye namanye amaqembu okusekela abazali.
• Into ebaluleke kakhulu ukuthanda nokusekela ingane yakho nokusebenza ukuze uyinike impilo engcono kakhulu.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela wakho. Bangachaza futhi bakuqondise kabanzi.

Isifo senhliziyo, i-CFC Syndrome, Izifo zofuzo, Isifo senhliziyo, Izifo zesikhumba, Ukukhubazeka kokukhula, Impilo yengane, i-RASopathy