Ngaba uyayazi le meko ingaqhelekanga? I-Cardiofaciocutaneous Syndrome

Ngaba wakha weva ngeCardiofaciocutaneous Syndrome, okanye iCFC Syndrome njengoko siyibiza ngokufutshane? Yimeko engaqhelekanga, oko kuthetha ukuba ayisosifo esichaphazela wonke umntu. Kodwa inokuchaphazela iindawo ezininzi zomzimba wethu. Ichaphazela kakhulu intliziyo (cardio-), ubuso (facio-), kunye nolusu kunye neenwele (cutaneous). Ayipheleli apho, kodwa le meko inokubangela ukulibaziseka kophuhliso kunye neengxaki zophuhliso lwengqondo ebantwaneni. Ngoko ke, masithethe ngayo ngokweenkcukacha, akunjalo?

Yintoni kanye kanye iCardiofaciocutaneous Syndrome (CFC Syndrome)?

Ngamafutshane, le yimeko yemfuza . Oko kukuthi, ibangelwa lutshintsho (uguquko) kwiijini zethu. Esi sisifo esikwiqela lezifo ezibizwa ngokuba yi-'RASopathy'. I-'RASopathies' liqela leemeko zemfuza ezibangelwa sisiphene 'kwindlela ye-RAS', indlela iiseli emzimbeni wethu ezinxibelelana ngayo. Cinga ngayo njengeeseli emzimbeni wethu ezitshintshiselana imiyalezo emincinci. Ukuba olu tshintshiselwano lwemiyalezo alwenzeki kakuhle, iingxaki ezahlukeneyo zinokuvela.

Ngokuphathelele indlela eqhelekileyo ngayo i-CFC syndrome, eneneni ayiqhelekanga kakhulu . Ezinye iingxelo zibonisa ukuba le meko ichaphazela malunga nomnye kubantwana abayi-810,000. Iingxelo zonyango zikhankanya kuphela amakhulu ambalwa amatyala. Nangona kunjalo, izazinzulu zikholelwa ukuba eli nani linokuba phezulu kakhulu. Oku kungenxa yokuba ngamanye amaxesha iimpawu zincinci kangangokuba azifumaneki. I-CFC syndrome inokubhidaniswa nezinye iimeko zemfuza.

Ziziphi iimpawu ezinokubakho ze-CFC syndrome?

Iimpawu zingahluka kakhulu kumntu nomntu. Abanye abantu baneempawu ezibuthathaka kakhulu, ngelixa abanye banokuba neempawu eziqatha ngakumbi. Kwakhona, ezi mpawu zinokuchaphazela amalungu ahlukeneyo omzimba.

Iimpawu ezinxulumene nentliziyo

Amaxesha amaninzi, abantwana abane-CFC syndrome bazalwa beneengxaki ezithile zentliziyo . Ezi zibizwa ngokuba ziziphene zentliziyo ezizalwa nazo. Ezi mpawu ngamanye amaxesha zinokubonakala xa bezalwa, okanye zibonakale kamva. Nazi imizekelo embalwa:

• Ukuba nevalvu yentliziyo engaqhelekanga echaphazela ukuhamba kwegazi ukusuka entliziyweni ukuya emiphungeni.
• Ukugquma kwentliziyo sisandi esingaqhelekanga esivakala entliziyweni.
• Umngxuma ophakathi kwamagumbi amabini asezantsi entliziyo (iVentricular Septal Defect).
• Ukuba nomngxuma phakathi kwamagumbi amabini aphezulu entliziyo (i-Atrial Septal Defect).
• Ukubuthathaka okanye ukutyeba kwemisipha yentliziyo (i-Hypertrophic Cardiomyopathy).

Iimpawu ezinxulumene nolusu neenwele

Phantse wonke umntu onesi sifo uza kubona utshintsho oluthile kulusu lwakhe nakwienwele zakhe.

• Ukuba nolusu olomileyo nolurhabaxa . Lusenokungabi bushelelezi njengolusu lomntwana, kodwa lube lomile kwaye lurhabaxa kancinci.
• Iimpawu zokuzalwa ezimnyama (nevi)Ukubona okungakumbi.
• Ukuncitshiswa okanye ukulahleka kweenkophe okanye amashiya .
• Iinwele ziba zincinci, ziqhekeke, zome, kwaye zibe buthathaka .
• Ukuvela kwamaqhuqhuva amancinci afana namaqhuqhuva (iKeratosis Pilaris) ezingalweni, emilenzeni nasebusweni.
• Ulusu olunemibimbi ezintendeni nasezinyaweni.

Utshintsho kwinkangeleko yobuso

Ezinye iimpawu ezithile zinokubonakala nakwinkangeleko yobuso yabantwana abanesifo esi.

• Ubuso obubanzi, obude .
• Ukuwa kweenkophe (i-Ptosis).
• Umgama okhulayo phakathi kwamehlo kunye nokuthambekela ezantsi kwamehlo.
• Ibunzi liphezulu kwaye lincinci kumacala omabini.
• Ukuba nentloko enkulu kuneqhelekileyo (iMacrocephaly).
• Iindlebe zingaphantsi komgangatho oqhelekileyo.
• Impumlo emfutshane.
• Isilevu esincinci.

Ezinye iingxaki abanokuba nazo abantwana

Abantwana abanale meko banokufumana ezinye iingxaki:

• Ukulibaziseka kokukhula kunye neengxaki zophuhliso lwengqondo (ezidla ngokuba phakathi ukuya kwezinzima).
• Ubunzima bokutya .
• Ulwelo olugqithisileyo engqondweni (iHydrocephalus).
• Ukwehla kwamanqanaba e-hormone yokukhula.
• Ukuxhuzula .
• Ukwanda kobunzima kunye nokungaphumeleli kokukhula (Ukungaphumeleli ukukhula).
• Iingxaki zokubona .
• Ubuthathaka bemisipha kunye nokuqhwalela (Hypotonia).

Yintoni ebangela i-CFC syndrome?

I-CFC syndrome ibangelwa kukuguquka (utshintsho) kwenye yezakhi zofuzo ezininzi. Ezi zakhi zofuzo zezi:

• Ijini ethi `BRAF` (echaphazeleka kakhulu)
• I-genes ethi `MAP2K1` kunye ne `MAP2K2` (yesibini exhaphakileyo)
• Ijini ethi `KRAS` (inqabile)

Ezi jini ziyalela imizimba yethu ukuba yenze iiproteni ezibalulekileyo kunxibelelwano lweeseli. Le nkqubo yonxibelelwano ibizwa ngokuba yi-'RAS/MAPK pathway'. Le nkqubo ibalulekile ekuphuhlisweni kwe-embryo.

Nangona kunjalo, abanye abantu abafunyaniswe bene-CFC syndrome abakafunyaniswanga ukuba banazo naziphi na ezi nguqu zemfuza. Izazinzulu zikholelwa ukuba abantu abanjalo banokuba ne-'Costello Syndrome' okanye 'Noonan Syndrome'.

Ngaba isifo se-CFC sidluliselwa kwilifa?

Kwiimeko ezininzi, i-CFC syndrome ayizuzwa njengelifa . Olu tshintsho lwezakhi zofuzo ludla ngokuzenzekela ngexesha lokukhula komntwana ongekazalwa. Uninzi lwabantu abanale meko abanayo imbali yesifo kusapho lwabo.

Nangona kunjalo, kunqabile kakhulu ukuba esi sifo sifumaneke kwizizukulwana ngezizukulwana. Ukuba sifunyenwe, sifumaneka ngendlela ethi "Autosomal Dominant". Oku kuthetha ukuba nokuba umntwana ufumana ikopi enye yejini eguquliweyo kumzali omnye ongenaso isifo kodwa ophethe ijini eguquliweyo, umntwana usenokusifumana esi sifo.

Ungayibona njani le meko?

Ngamanye amaxesha i-CFC syndrome ifunyaniswa ngaphambi kokuba umntwana azalwe, ngexesha lokukhulelwa,Ii-ultrasound zangaphambi kokuzalwa zinokubonelela ngezikhokelo, ezinje ngokonyuka komthamo wolwelo lwe-amniotic olujikeleze usana, okanye intloko nomzimba wosana ukuba lukhulu kunokuba bekulindelwe.

Nangona kunjalo, le meko idla ngokuchongwa ebuntwaneni . Ukuba umntwana wakho uneempawu zomzimba ezinxulumene nale meko, ugqirha unokuyalela uvavanyo olufana nolu:

• Jonga ukusebenza kwentliziyo yomntwana ngovavanyo olufana ne -`Electrocardiogram (ECG)` , `Echocardiogram` , okanye `Cardiac Catheterization` .
• Uvavanyo lweMolekyuli yeMfuzo ukuze kuchongwe utshintsho lwemfuza. Oku kudla ngokufuna isampuli yegazi okanye isampuli yeeseli ezithathwe ngaphakathi esidleleni.
• Uvavanyo lwe-X-ray, i-CT scan, i-MRI, okanye i-ultrasound ukuze kubonwe ukuba kukho naziphi na izinto ezingaqhelekanga ezikhula entliziyweni yomntwana, engqondweni, okanye kwamanye amalungu omzimba.
• Vavanya amaza obuchopho kunye nomsebenzi wokuxhuzula nge-`Stereoelectroencephalography (SEEG)` .
• Jonga ingaphakathi lamehlo omntwana ngovavanyo lokubona olufana ne -'Ophthalmoscopy' .

Inyangwa njani i-CFC syndrome?

Enyanisweni, akukho ndlela ithile yonyango lwe-CFC syndrome. Abantwana abanale meko bafuna inkxaso yeqela loogqirha abanezakhono ezahlukeneyo, kuquka:

• Ingcali yentliziyo
• Ingcali yesikhumba
• Ingcali ye-Endocrinologist (ugqirha ochwephesha kwinkqubo ye-endocrine)
• Ugqirha ochwephesha kwinkqubo yokugaya ukutya (Gastroenterologist)
• Ingcali yemfuza
• Ingcali yezifo zengqondo
• Ingcali yoNyango loMsebenzi
• Ingcali yamehlo
• Ugqirha wabantwana
• Ingcali yoNyango lomzimba
• Ingcali yemisebe
• Ingcali yoNyango lweNtetho

Iindlela zonyango zahluka kakhulu ngokuxhomekeke kwiimfuno zomntwana ngamnye. Nangona kunjalo, zingabandakanya:

• Ii-antibiotics zokuthintela usulelo, ingakumbi ukuba umntwana uneengxaki zentliziyo.
• Lawula ukuxhuzula ngamayeza okuthintela ukuxhuzula .
• Ukufaka ityhubhu yokutyisa ngempumlo yomntwana okanye ngesikhumba sesisu ukuze umntwana afumane iikhalori kunye nezondlo.
• Phucula umbono wakho ngeglasi, iilensi zoqhagamshelwano, okanye utyando .
• Ukutya okune-calories ephezulu, okunesondlo .
• Iiloshini okanye amafutha okunceda ulusu olomileyo.
• Amayeza okuphucula ukusebenza kwentliziyo yomntwana okanye ukunciphisa iingxaki zenkqubo yokugaya ukutya.
• Amayeza okunyusa amanqanaba ehomoni yokukhula.
• Ukubeka i-shunt ukususa ulwelo olugqithisileyo olujikeleze ingqondo yomntwana kunye nokunciphisa uxinzelelo.
• Utyando lokulungisa iingxaki zentliziyo. Abanye abantwana banokufuna utyando lwentliziyo ukulungisa ivalvu yemiphunga engaqhelekanga.

Ingakanani iminyaka yokuphila nge-CFC syndrome?

Ubungakanani bobomi bomntu one-CFC syndrome buxhomekeke kubukhali beempawu zakhe. Nangona kunjalo, xa exilongwa kwaye enyangwa ngokufanelekileyo, uninzi lwabantu abanale meko baphila ubomi obuqhelekileyo.

Eyona nto ibalulekileyo kukunika umntwana inkxaso nonyango aludingayo ngexesha elifanelekileyo, ukuze aphile ubomi obungcono kangangoko.

Ngaba i-CFC syndrome ingathintelwa?

Ngenxa yokuba le meko ibangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga, akukho ndlela yokuthintela utshintsho olukhokelela kwi-CFC syndrome.

Yintoni enye endifanele ndiyibuze ugqirha wam malunga ne-CFC syndrome?

Ukuba umntwana wakho une-CFC syndrome, kungcono ukubuza ugqirha wakho imibuzo efana nale:

• Ingaba oku kungaba yi-'Costello Syndrome' okanye yi-'Noonan Syndrome'? Kutheni utsho/ungatsho njalo?
• Ingaba olu tshintsho lwemfuza lufunyenwe njengelifa okanye lwenzeka ngengozi?
• Ngaba umntwana wam unesiphene sentliziyo?
• Ingaba umntwana wam unolwelo olongezelelweyo engqondweni yakhe?
• Ngaba umntwana wam uza kuba nesifo sokuxhuzula?
• Ngaba le meko iza kuyichaphazela indlela umntwana wam abona ngayo izinto?
• Ngaba umntwana wam uza kufuna utyando okanye amayeza?
• Siqinisekisa njani ukuba umntwana wam ufumana isondlo asidingayo?
• Ngaba kukho naziphi na iimpawu ezikhethekileyo ekufuneka ndixelele ugqirha ngazo?
• Ubunzima kangakanani ukukhubazeka kwengqondo?
• Zeziphi iingcali esifanele sizibone kwaye kangaphi?
• Ngaba kukho amaqela enkxaso anokusinceda sijongane nale meko?
• Ngaba ucebisa iingcebiso ngemfuza?

Yintoni umahluko phakathi kwe-CFC syndrome, i-Costello syndrome, kunye ne-Noonan syndrome?

Iimpawu ze-CFC syndrome zifana kakhulu nezo zeCostello Syndrome kunye neNoonan Syndrome. Ukwahlula ezi meko zintathu zemfuza kunokuba nzima, ingakumbi ebuntwaneni.

Nangona kunjalo, zonke ezi meko zintathu zibangelwa ziinguqu ezahlukeneyo zemfuza . Kwakhona, ngokungafaniyo ne-CFC syndrome, umntu one-Costello Syndrome usengozini enkulu yokuba nomhlaza .

Xa uqala ukuva ukuba umntwana wakho unesimo semfuza esifana neCardiofaciocutaneous Syndrome (CFC Syndrome), usenokuxinezeleka ziimvakalelo. Uhambo lokufumanisa isifo lunokuba luhambo olunzima. Kwaye ngalo lonke uncedo umntwana wakho aludingayo, iintsuku zakho zingaxakeka. Kodwa kubalulekile ukuzinika ixesha kwaye uzame ukulawula uxinzelelo lwakho.Fumana iindlela zokunxibelelana nabanye abazali babantwana abanezigulo ezingaqhelekanga. Kukho iindawo ezininzi ezikwi-intanethi, kwaye oogqirha bomntwana wakho basenokuba bayayazi loo nto.

Umyalezo Wokuya Ekhaya

I-Cardiofaciocutaneous syndrome (CFC Syndrome) yimeko engaqhelekanga kodwa enokubangela umonakalo omkhulu kwimfuza. Musa ukoyika ukuba ufunyaniswe unale meko.

• Le meko inokuchaphazela intliziyo, ubuso, ulusu, iinwele, kunye nophuhliso lomntwana.
• Nangona kungekho nyango luthile, kukho iindlela ezahlukeneyo zonyango kunye nenkxaso yezonyango ekhethekileyo enokunceda ukulawula iimpawu .
• Uninzi lwabantwana lunokuphila ubomi obuqhelekileyo ngonyango olufanelekileyo nokhathalelo.
• Awuwedwa. Fumana uncedo koogqirha, abacebisi, kunye namanye amaqela enkxaso yabazali.
• Eyona nto ibalulekileyo kukuthanda nokuxhasa umntwana wakho kwaye usebenzele ukumnika ubomi obungcono kangangoko.

Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha wakho. Banokukunika iingcaciso ezingaphezulu kunye nesikhokelo.

Isifo sentliziyo, i-CFC Syndrome, izifo zemfuza, isifo sentliziyo, izifo zolusu, ukulibaziseka kokukhula, impilo yomntwana, i-RASopathy