Ngaba umntwana wakho unazo ezi mpawu? Masifunde ngeCostello Syndrome!

Ngamanye amaxesha siyakhathazeka kakhulu xa sisiva ngezifo ezithile eziza kuba nazo abantwana bethu, akunjalo? Ingakumbi ukuba sisifo esingaqhelekanga. Esinye sezifo ezingaqhelekanga zemfuza abantu abaninzi abangazange beve ngazo, kodwa kubalulekile ukwazi ngaso, yiCostello Syndrome. Makhe sithethe ngayo ngokweenkcukacha ezithe vetshe, ngokulula. Unokucinga ukuba oku akusebenzi kum, kodwa olu lwazi luya kuba luncedo ukunceda umntu ngenye imini.

Yintoni iCostello Syndrome?

Ngamafutshane, iCostello Syndrome sisifo esingaqhelekanga semfuza esinokuchaphazela iindawo ezininzi zomzimba. Umzekelo, sinokuchaphazela iinkqubo ezininzi zamalungu omzimba, ezifana nengqondo, amathambo, intliziyo, amathumbu, izihlunu, izintso kunye nolusu.

Khawucinge nje, sineeseli emzimbeni wethu. Ezi seli zizo ezisikhulisayo nezisilungisayo. Ngokwesiqhelo, ezi seli ziyakhula kwaye zahlulwe ngokwendlela ethile yokulawula. Nangona kunjalo, kwi-Costello syndrome, kuba ngathi ezi seli zifumana umyalelo wokuba "zikhule kwaye zahlulwe kakhulu, ngokukhawuleza kakhulu." Isizathu soku kukuba kukho isiphene kwiiproteni ezilawula ukukhula kweeseli. Ngale ndlela, iiseli ziyanda ngokungeyomfuneko nangokukhawuleza, kwaye kukho umngcipheko okhulayo wokukhula kweethumba, zombini ezinomhlaza nezingengomhlaza .

Ixhaphake kangakanani le meko?

Enyanisweni, iCostello syndrome yimeko engaqhelekanga kakhulu. Kuqikelelwa ukuba ngabantu abaphakathi kwe-100 ne-1500 kuphela kwihlabathi liphela abanesifo. Oku kuthetha ukuba yimeko engaqhelekanga kakhulu.

Zithini iimpawu zeCostello syndrome?

Iimpawu zeCostello syndrome zinokwahluka kumntu nomntu, kwaye ubukhali beempawu bunokwahluka. Ezi mpawu zichaphazela amalungu ahlukeneyo omzimba. Makhe sijonge iimpawu eziphambili ezinokubonwa:

• Isifo sentliziyo: Iimeko ezifana nokungahambelani kakuhle kwentliziyo (`arrhythmia`) kunye nokuqina kwemisipha yentliziyo (`hypertrophic cardiomyopathy`) zinokwenzeka. Mhlawumbi ezi zezona mpawu ziyingozi kakhulu.
• Ubunzima bokuncancisa nokuncancisa: Ingakumbi xa umntwana esemncinci, kunokuba nzima ukuba ancancise aze atye. Ngamanye amaxesha kunokufuneka ityhubhu yokuncancisa .
• Ukugoba komqolo: Iimeko ezinje ngokugoba komqolo ecaleni (scoliosis) okanye ukugoba phambili (kyphosis) zinokubonakala.
• Ukukhubazeka kwengqondo kunye nokukhubazeka kwengqondo: Ukukhubazeka kwengqondo okuncinci ukuya kokuphakathi kunokwenzeka. Ezinye iingxaki ekuphuhlisweni kwengqondo, ezifana nokukhubazeka kweChiari, nazo zinokubonwa.
• Iingxaki zokubona kunye namazinyo: Ukuphazamiseka kokubona, iingxaki ngokuma okanye ukukhula kwamazinyo zinokubakho.
• Utshintsho kwisakhiwo sezintso: Kusenokubakho utshintsho oluthile kwimilo okanye kwindawo yezintso.
• Ubuthathaka bemisipha (hypotonia): Izihlunu zomzimba zisenokuba zikhululekile kwaye zinamandla amancinci.

Iimpawu ezibonakalayo zomzimba

Ukongeza kwezi mpawu, ezinye iimpawu ezahlukileyo zinokubonakala kwinkangeleko yabantwana kunye nabantu abadala abaneCostello syndrome:

• Ukugoba kakhulu kweminwe kunye namalungu esihlathi.
• Ukuba nomsipha we-Achilles oqinileyo ngasemva kwesithende.
• Inentloko enkulu kuneqhelekileyo, umlomo omkhulu, imilebe epheleleyo, iimpumlo ezibanzi, kwaye ubuso bubonakala burhabaxa kancinci .
• Ukuba nolusu olukhululekileyo ezandleni nasezinyaweni ('cutis laxa').
• Ukukhula kancinci ngexesha lobuntwana kunye nokulahlekelwa bubude emva kokuba umntu emdala.
• Ezinye iindawo zesikhumba ziba mnyama kunesikhumba esijikelezileyo (hyperpigmentation).

Kutheni kuvela iithumba kule meko?

Njengoko benditshilo ngaphambili, utshintsho lwemfuza olubangela i-Costello syndrome lubangela ukuba iiseli zikhule kwaye zahlukane ngokukhawuleza. Ukwahlukana kweeseli ngokugqithisileyo yikona okubangela iithumba. Ezi thumba zinokuba ngumhlaza okanye zingabi ngumhlaza (zingabi yingozi).

Nazi ezinye zezona ntlobo zixhaphakileyo zamandongomane:

• I-Papilloma (engengomhlaza): Ezi ziintshulube ezincinci, ezifana neentsumpa ezinokuvela zijikeleze impumlo, umlomo, okanye i-anus.
• I-Rhabdomyosarcoma (umhlaza): Lo ngumhlaza owenzeka kwizihlunu ngexesha lobuntwana.
• I-Neuroblastoma (umhlaza): Lo ngumhlaza weeseli zemithambo-luvo oxhaphake kakhulu ebantwaneni nakubantu abadala abancinci.
• I-Transitional cell carcinoma (umhlaza): Olu luhlobo lomhlaza wesinyi olwenzeka kubantu abadala.

Yintoni ebangela i-Costello syndrome?

Eyona nto ibangela i-Costello syndrome kukuguquka kwe-gene ye-HRAS kwiijini zethu. Le gene ye-HRAS ivelisa iproteni ebizwa ngokuba yi-H-Ras. Indima yale proteni kukulawula ukukhula kweeseli kunye nokwahlukana kweeseli.

Cinga ngale protein ye-H-Ras njengeswitshi yokukhanya. Xa i-gene ye-HRAS ifumana utshintsho, iswitshi "yokucima" yale protein iyayeka ukusebenza. Kufana nokuba iprotein "ihlala ivuliwe." Ngenxa yoko, iiseli zihlala zifumana imiqondiso engafunekiyo "yokukhula ngakumbi, yahlulwe ngakumbi." Le yimvelaphi yemfuza esisiseko ye-Costello syndrome.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Uninzi lweemeko zeCostello syndrome zibangelwa lutshintsho olutsha lwemfuza (`de novo` mutations). Oku kuthetha ukuba umntwana unokufumana esi sifo ngokungacwangciswanga, ngaphandle kokuba nabani na kusapho lwakhe abe nale meko ngaphambili.

Kodwa, kunqabile kakhuluAbantwana banokufumana esi sifo kubazali babo. Oku kubizwa ngokuba yi-"autosomal dominant". Oku kuthetha ukuba nokuba ngumzali omnye kuphela one-genetic variation, kukho amathuba angama-50% okuba umntwana asifumane.

Ngubani onokuhlakulela i-Costello syndrome?

Le meko inokwenzeka nakubani na. Njengoko bekutshiwo ngaphambili, idla ngokuvela ngokungacwangciswanga, ngaphandle kwembali yosapho.

Sifunyaniswa njani esi sifo? (Ukuxilongwa)

I-Costello syndrome idla ngokufunyaniswa kwasebuntwaneni. Ugqirha uya kuqala ahlolisise iimpawu zomntwana ngononophelo. Emva koko, kuya kwenziwa uvavanyo lwemfuza ukuqinisekisa ukungaqheleki kwemfuza. Ugqirha uya kubuza nokuba kukho nabani na kusapho lwakhe onembali yeengxaki zemfuza, njengoko zingenakufuzwa njengelifa.

Ngamanye amaxesha, iimpawu zeCostello syndrome zinokufana nezezinye iimeko zemfuza, ezifana ne -cardiofaciocutaneous syndrome (CFC syndrome) kunye ne -Noonan syndrome . Ke ngoko, uvavanyo lwemfuza lubalulekile ukuze kufunyanwe isifo ngokuchanekileyo. Yiyo evumela ukuba ezi meko zahlulwe.

Ziziphi iindlela zonyango lweCostello syndrome?

Ngelishwa, akukho nyango luqinisekileyo lwe-Costello syndrome. Ke ngoko, unyango lujolise kakhulu ekulawuleni nasekulawuleni iimpawu. Kukho iindlela ezahlukeneyo zonyango:

• Utyando: Utyando lunokufuneka kwizinto ezifana nesifo sentliziyo, iingxaki zokutya, kunye ne-spinal stenosis.
• Amayeza: Amayeza anjenge -beta-blockers, i-calcium channel blockers, kunye namayeza e-antiarrhythmic anikwa ukulawula iimpawu zesifo sentliziyo.
• Ukuphucula ukubona: nxiba iiglasi okanye wenze utyando lwamehlo.
• Ukuqinisa izihlunu nokunyanga iingxaki ekukhuleni kwamathambo: ukunxiba izixhobo ezikhethekileyo (`i-brace`), ukubonelela ngonyango lomzimba kunye nonyango lomsebenzi.
• Iinkqubo zemfundo ekhethekileyo: Ukudluliselwa kwiinkqubo zemfundo ekhethekileyo ukuxhasa ukufunda komntwana esikolweni.
• Unyango lwee-tumor: Utyando okanye i-chemotherapy yee-tumor ezinomhlaza. Ukususwa kwee-tumor ezingezizo ezomhlaza ezifana nee-papillomas kusetyenziswa umkhenkce owomileyo .

Eyona nto ibalulekileyo kukulandela zonke ezi ndlela zonyango njengoko ugqirha eyalela, ngokwemeko yomntwana kunye neempawu zakhe.

Buza kuba njani ubomi kule meko?

I-Costello syndrome yimeko yobomi bonke.Akukho ndlela ithile yokunyanga esi sifo. Ubungakanani bobomi bomntu onesi sifo buxhomekeke kubukhali beempawu zaso, ingakumbi iimpawu zentliziyo.

Nangona kunjalo, ukuba isifo sifunyenwe kwangethuba kwaye unyango luqalwe ngokukhawuleza, umntwana unokuncedwa ukuba aphile ubomi obulungileyo. Unyango alugcini nje ngokulawula iimpawu, kodwa lukwanyanga neethumba ezibangelwa kukwahlukana okukhulu kweeseli. Ke ngoko, kukho ithemba.

Ngaba i-Costello syndrome ingathintelwa?

Enyanisweni, kunzima kakhulu ukuthintela le meko. Kuba, uninzi lwexesha, yenzeka ngequbuliso, ngokungalindelekanga. Nangona kunjalo, ukuba uyazi ukuba umntu kusapho lwakho unesifo semfuza esifana neCostello syndrome, ungafumana umbono othile ngomngcipheko wakho ngokuthetha nogqirha kwaye ufumane ingcebiso yemfuza (`ingcebiso yemfuza`) kwaye, ukuba kuyimfuneko, `uvavanyo lwemfuza` .

Ndifanele ndibonane nogqirha nini?

Ukuba umntwana wakho ufunyaniswe eneCostello syndrome kwaye ubonakalisa iimpawu ezichaphazela indlela yakhe yokuphila eqhelekileyo , ingakumbi ukuba unengxaki yokutya okanye ukhula kakubi, bonana nogqirha ngokukhawuleza.

Kukho amaxesha apho kufuneka uye kwigumbi likaxakeka, ingakumbi ukuba unezinye zezi mpawu zinxulumene nentliziyo:

• Ukubetha kwentliziyo okukhawulezayo okanye okucothayo ngendlela engaqhelekanga.
• Ubunzima bokuphefumla.
• Iintlungu zesifuba.
• Ukuziva unesizungu okanye unesizungu.

Ukuba ubona ezi mpawu, musa ukulibazisa.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga, kuyinto eqhelekileyo ukuba nemibuzo emininzi. Kubalulekile ukubuza ugqirha wakho imibuzo efana nale:

• Zithini iziphumo ebezingalindelekanga zonyango olunikezelwayo?
• Ngaba umntwana wam udinga utyando ?
• Ndifanele ndize kangaphi ukuze ndihlolwe ukuze ndijonge iimpawu zomntwana wam?
• Ngaba umntwana wam udinga iinkonzo zengcali ? (umz. ingcali yentliziyo, ingcali yemfuza)

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuziva uxinezelekile kwaye uxhalabile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga semfuza njengeCostello Syndrome. Kuyafana nakubani na. Kodwa khumbula, awuwedwa. Oogqirha kunye nabasebenzi bezempilo benza konke okusemandleni abo ukunika umntwana wakho unyango olungcono kunye nonyango aludingayo.

Eyona nto ibalulekileyo kukuhlala uqaphela iimpawu zomntwana wakho. Qaphela ngakumbi naziphi na iithumba ezincinci ezinokubangelwa kukwahlukana kweeseli ngokugqithisileyo. Okukhona zichongwa kwaye zinyangwa kwangoko, kokukhona iziphumo ziba ngcono.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo engaphezulu, ungathandabuzi ukuthetha nogqirha.

Isifo sikaCostello, izifo zofuzo, izifo ezingaqhelekanga, impilo yabantwana, i-HRAS gene, umngcipheko womhlaza, iimpawu