Ngaba uyayazi le meko ingaqhelekanga ebizwa ngokuba yiCarney Complex?

Ngaba umbala wolusu lwakho utshintshile ngequbuliso, okanye ngaba uqaphele amabala okanye amabala angaqhelekanga? Okanye ngaba uqaphele ukukhula okuncinci, okunamaqhuqhuva emzimbeni wakho? Usenokuba nexhala kancinci. Ngamanye amaxesha asizihoyi kangako ezi mpawu. Nangona kunjalo, emva kwezi mpawu, kunokubakho imeko engaqhelekanga ebizwa ngokuba yiCarney Complex efuna ingqalelo ekhethekileyo. Ungakhathazeki, siza kuthetha ngale nto ngokulula nangendlela onokuyiqonda.

Yintoni kanye kanye iCarney Complex?

Ngamafutshane, iCarney Complex yimeko echaphazela umbala wolusu lwethu kwaye ibangela ukuba iithumba ezingezizo ezomhlaza (ezingenobungozi), oko kukuthi, iithumba ezingengobungozi, zivele kwizicubu zomzimba kunye namadlala e-endocrine. Oku kudla ngokubangelwa yimbangela yemfuza. Oko kukuthi, kubangelwa lutshintsho (ukuguqulwa) kwijini elizuzwe ngabazali ukuya ebantwaneni.

Ngaba kukho amanye amagama alo mba?

Ewe, iCarney Complex ikwaziwa nangamanye amagama aliqela. Ugqirha wakho angasebenzisa elinye lala magama:

• Isifo seCarney
• I-NAME syndrome - Oonobumba u-NAME bamele i-nevi (amabala afana neempawu zokuzalwa), i-atrial myxoma (uhlobo lwethumba oluvela entliziyweni), i-myxoid neurofibromas (uhlobo lwethumba olunxulumene nemithambo-luvo), kunye ne-ephelides (amabala).
• I-LAMB syndrome - Oku kukwamela iilentigines (amabala amdaka), i-atrial myxoma, kunye ne-blue nevi (iimpawu zokuzalwa eziluhlaza okwesibhakabhaka).

Ngubani ofumana iCarney syndrome? Ixhaphake kangakanani?

I-Carney Complex yimeko eyenzeka kubantu abazalwa benotshintsho oluthile lwemfuza. Nangona kunjalo, abantu abaninzi basenokungazi ukuba banale meko de kubekho iimpawu. Nangona ezi mpawu zinokuvela nangaliphi na ixesha ebuntwaneni, uninzi lwabantu luxilongwa ngoogqirha abaneminyaka emalunga nama-20 ubudala.

Ngokuphathelele ukuba oku kuxhaphake kangakanani, iCarney Complex yimeko engaqhelekanga kakhulu . Cinga nje, bangaphantsi kwama-750 abantu emhlabeni abaye bafunyanwa benesi sifo. Ngoko ke akukho mfuneko yokoyika ngaso, kodwa kubalulekile ukuba uqaphele.

Kutheni le Carney Complex iphuhliswa? Yintoni unobangela?

I-Carney Complex sisifo esibangelwa yimfuza.. Le meko ibangelwa ikakhulu kukuguquka kwejini ebizwa ngokuba yi-`(PRKAR1A gene)`. I-DNA ekule jini iyalela imizimba yethu indlela yokwenza i-enzyme elawula iproteni ethile. Cinga ngale jini njengegumbi lokulawula eliphambili lefektri. Ukuba kukho utshintsho kule `(PRKAR1A gene)`, iproteni enxulumene naleyo enzyme ayinakulawulwa ngokufanelekileyo. Emva koko iiseli ziqala ukukhula ngokungalawulekiyo nangokugqithisileyo. Yileyo ndlela izinto ezifana neethumba eziqala ngayo ukwakheka.

Kwiimeko ezininzi, malunga ne-70% , iCarney Complex ibangelwa ngumntwana ofumana olu tshintsho lwemfuza komnye wabazali bakhe. Nangona kunjalo, kwabanye abantu, le meko ibangelwa kukuguquka kwemfuza okutsha, oko kuthetha ukuba ayizuzwanga kumzali.

Ngaba ezi nguqu zemfuza zezona zibangela kuphela?

Ayingabo bonke abantu abaneCarney Complex abanokuba notshintsho kwizakhi zofuzo. Abaphandi bakholelwa ukuba le meko isenokubangelwa lutshintsho kwinxalenye yechromosome (imolekyuli equlethe izakhi zofuzo). Nangona kunjalo, uphando ngale nto lusaqhubeka.

Ziziphi iimpawu eziphambili zeCarney Complex?

Ukuba une-Carney syndrome, unokubona utshintsho oluthile kwibala lolusu lwakho.

• Amabala kunye neelentigines: Ezi zinokubonakala naphi na emzimbeni, kodwa zibonakala kakhulu apha:
• Emehlweni
• Imilebe itsaliwe.
• Ejikeleze indawo yangasese. La mabala anokubonakala njengamachaphaza amancinci amdaka, umbala wembotyi yekofu.
• I-nevi eluhlaza okwesibhakabhaka: Ngamanye amaxesha iimpawu zokuzalwa eziluhlaza okwesibhakabhaka okanye ezimnyama zinokubonakala eluswini.

Ziziphi ezinye iimpawu ngaphandle kotshintsho lolusu?

Abanye abantu abaneCarney Complex banokuba ne-cardiac myxomas. Ezi zinokuba yingozi kakhulu kwaye zifuna ingqalelo ekhethekileyo. Ukongeza, ii-tumor zinokuvela kwezinye iindawo ezininzi. Umzekelo:

• Amathambo
• Amabele
• Izini
• Ii-glands ezivelisa iihomoni (inkqubo ye-endocrine) - umzekelo, i-thyroid gland kunye nee-adrenal glands.
• Inkqubo yemithambo-luvo
• Ulusu
• Inxalenye ephezulu yomqala (oropharynx)

Into ebalulekileyo kukuba uninzi lwamaqhuqhuva akhula ngolu hlobo awanalo umhlaza (angabi yingozi). Oko kuthetha ukuba awenzi monakalo mkhulu. Nangona kunjalo, kwiimeko ezingaqhelekanga, amanye amaqhuqhuva anokuba ngumhlaza (ayingozi) . Yiyo loo nto kubalulekile ukuba uhlolwe rhoqo ngugqirha.

Ingaba esi sisifo esosulelayo?

Hayi, akunjalo konke konke. I-Carney Complex ayisosifo esosulelayo . Awunakuyifumana kumntu onayo le meko.

Sichongwa njani esi sifo ngokuchanekileyo? (Ukuxilongwa)

Ukuba wena okanye ugqirha wakho ukrokrela ukuba uneCarney Complex, ugqirha wakho uya kuqala enze uvavanyo lomzimba . Baza kubuza nangembali yosapho lwakho. Uvavanyo lwemfuza lunokufuneka ukuqinisekisa ukuxilongwa.

Zeziphi iimvavanyo ezisetyenziselwa ukuxilongwa?

Ngokuxhomekeke kwiimpawu onazo wena okanye umntwana wakho, oogqirha banokucebisa uvavanyo olwahlukeneyo. Ezinye zezi ziquka:

• I-Echocardiogram: Olu luvavanyo lokujonga ukusebenza kwentliziyo. Oku kubaluleke kakhulu ukujonga amathumba entliziyo.
• Uvavanyo lwegazi nomchamo: Olu vavanyo lwenziwa ukujonga amanqanaba athile eehomoni.
• Iimvavanyo ezahlukeneyo zokujonga imifanekiso: Iimvavanyo ezifana ne-ultrasound, i-CT scan, i-MRI, kunye ne-X-ray zisetyenziselwa ukubona ukuba kukho iithumba emzimbeni.
• I-biopsy yolusu: Ukuba kukho isilonda okanye ukukhula kwesikhumba okukrokrisayo, kuthathwa isampuli encinci yolusu ize ihlolwe phantsi kwe-microscope.
• Uvavanyo lwe-genetic: Oku kubalulekile ukuqinisekisa ukuba kukho utshintsho kwi-`(i-PRKAR1A gene)`.

Ziziphi iindlela zonyango zeCarney Complex?

Ugqirha uza kucebisa unyango olusekelwe kwiimpawu ezithile onazo wena okanye umntwana wakho. Ngokuyintloko:

• Utyando lwentliziyo oluvulelekileyo ukuze kususwe iithumba zentliziyo: Iithumba zentliziyo zinokuba yingozi kwaye zifuna utyando ukuze zisuswe.
• Utyando lokususa iithumba eluswini okanye kwiindlala ezithile: Iithumba eluswini okanye iithumba ezikwiindlala zehomoni nazo ziyasuswa ngotyando, ukuba kuyimfuneko.

Ugqirha wakho uza kuthetha nawe ngeendlela zonyango ezikulungeleyo.

Ngaba oku kunganyangwa ngokupheleleyo?

ICarney Complex yimeko ehlala ubomi bonke . Oku kuthetha ukuba ayinakunyangwa ngokupheleleyo. Kodwa ungakhathazeki, oogqirha banokukunceda ulawule iimpawu zakho kwaye uphile ubomi obusempilweni. Ngenxa yoku, unyango olufanelekileyo kunye nokuhlolwa rhoqo kwezonyango kubaluleke kakhulu.

Ngaba kukho iindlela zokunciphisa umngcipheko wokufumana esi sifo?

Akukho ndlela yokuthintela iCarney Complex kuba yimeko yemfuza. Nangona kunjalo, ukuba ukhulelwe, ungenza uvavanyo olubizwa ngokuba yi-genetic amniocentesis ukuze ubone ukuba umntwana wakho akanazo naziphi na iingxaki zemfuza.

Ndingayazi njani ukuba ndisemngciphekweni wokufumana esi sifo?

Ukuba kukho umntu kusapho lwakho – ingakumbi abazali bakho – oneCarney Complex, kubaluleke kakhulu ukuthetha nogqirha wakho ngayo ukuze kwenziwe uvavanyo olufunekayo.

Ukuba ndineCarney Complex, ndimele ndilindele ntoni?

Ukuba uneCarney Complex, kufuneka wazise ugqirha wakho ngoko nangoko ukuba ubonakalisa naziphi na iimpawu ezintsha. Ugqirha wakho unokucebisa novavanyo oluqhelekileyo lokujonga amanqanaba akho ehomoni kunye nempilo iyonke. Umzekelo:

• I- echocardiogram yonyaka .
• Uvavanyo lwegazi.
• Uvavanyo lwenkqubo ye-endocrine.
• Ukuhlolwa kolusu.
• Kumadoda, uvavanyo lwamasende okanye i-ultrasound.

Kuza kufuneka ndiphile ixesha elingakanani nale meko?

Njengoko bekutshiwo ngaphambili, iCarney Complex yimeko ehlala ihleli . Ugqirha wakho uya kuba liqabane elibalulekileyo ekulawuleni iimpawu zakho nokuhlala usempilweni.

Kunokuthiwani ngobomi obulindelekileyo kubantu abanesi sifo?

Abantu abaneCarney Complex banokuphila ubomi obuqhelekileyo , kodwa eyona nto ibalulekileyo kukufumana uhlolo lwezonyango rhoqo nokulandela iingcebiso zonyango.

Ngaba iithumba zingabuya emva konyango?

Ewe, ngelishwa, ngamanye amaxesha iithumba zinokuphinda zibuye emva konyango. Yiyo loo nto kubalulekile ukuvavanywa rhoqo ngugqirha.

Ngaba iCarney Complex ngumhlaza?

Ixesha elininzi, amaqhuma akhula kwiCarney Complex awanabungozi . Oku kuthetha ukuba awabangeli monakalo mkhulu. Nangona kunjalo, ngokuhamba kwexesha, amanye amaqhuma anokuba ngumhlaza/anobungozi . Ke ngoko, kubaluleke kakhulu ukuxelela ugqirha wakho ngazo naziphi na iimpawu ezintsha kwaye wenze zonke iimvavanyo ezifunekayo.

Ziziphi iingxaki ezinokubakho zeCarney Complex?

Ewe, le meko inokubangela iingxaki ezithile.

• Ukuba unethumba kwi-pituitary gland yakho (inxalenye yenkqubo ye-endocrine), inokuchaphazela ukuveliswa kwehomoni yokukhula emzimbeni wakho. Ukuba ihomoni yokukhula ininzi kakhulu, ezi meko zilandelayo zinokwenzeka:
• Isifo samathambo
• Utshintsho kwimilo yobuso
• Ukwandiswa okungaqhelekanga kwezandla neenyawo (i-acromegaly)
• Ukuba iithumba zikhula kwezinye iindlala ze-endocrine, zinokukhokelela kwiimeko ezifana nezi:
• Isifo sikaCushing
• Ithumba leseli leSertoli elibangela ukubala iiseli ezinkulu (uhlobo lwethumba olukhula emasendeni)
• Isifo se-adrenal nodular esiphambili esine-pigmented nodular ( iithumba ze-adrenal glands)
• I-Schwannomas(Uhlobo lwethumba olukhula kwimithambo-luvo)
• Amaqhuqhuva e-thyroid ( amaqhuqhuva kwi-thyroid gland)

Nangona oku kunokuvakala kuyinkimbinkimbi kancinci, konke oku kunxulumene nenkqubo yeehomoni. Yiyo loo nto kucetyiswa ukuba uhlolwe rhoqo amanqanaba akho eehomoni.

Umntu oneCarney Complex ufanele aye nini kugqirha?

Landela imiyalelo kagqirha wakho ngokuchanekileyo. Musa ukutsiba iimvavanyo ezicwangcisiweyo kunye nezihlandlo zokulandela emva kwaso nasiphi na isizathu . Ukuba ufumanisa naziphi na iimpawu ezintsha, yazisa ugqirha wakho ngoko nangoko.

Ngaba oku kungabangela imeko engxamisekileyo?

Ewe, ngamanye amaxesha iimeko ezingxamisekileyo zinokwenzeka. Iithumba, ingakumbi ezo zenzeka entliziyweni, zinokuthintela ukuhamba kwegazi. Oku kunokukhokelela kwiimeko ezinzulu ezifana nesifo sohlangothi , ukusilela kwentliziyo , okanye ukumisa intliziyo ngequbuliso . Ngoko ke, funa uncedo lwezonyango ngokukhawuleza ukuba unezinye zezi mpawu:

• Utshintsho kwintliziyo yakho
• Ukukhwehlela okanye ukuphefumla
• Ukudinwa rhoqo
• Ukuqhawukelwa ngumphefumlo
• Ukudumba emzimbeni – ingakumbi esiswini, emaqatheni, okanye ezinyaweni.

Umyalezo Wokugqibela Wokuya Ekhaya

I-Carney Complex sisifo esingaqhelekanga kakhulu esibangelwa yimfuza esinokubangela ukutshintsha kombala wolusu kunye neethumba ezingengozini kwiindawo ezahlukeneyo zomzimba, ingakumbi intliziyo kunye nenkqubo ye-endocrine. Ukuba ezi thumba zibangela iingxaki, oogqirha banokuzisusa ngotyando.

Nangona le yimeko yobomi bonke, ngokulandela iingcebiso zonyango ezifanelekileyo kunye nokufumana uvavanyo rhoqo, wena okanye umntwana wakho ninokuphila ubomi obusempilweni. Ngoko ke, kubalulekile ukumamela oko kuthethwa ngugqirha wakho kwaye wenze ngokufanelekileyo. Ungakhathazeki, awuwedwa, kwaye oogqirha bakhona ukukunceda.

I- Carney Complex, amabala esikhumba, ukutshintsha kombala wesikhumba, iithumba zomzimba, izifo zemfuza, iingxaki zehomoni, isifo sentliziyo, i-gene ye-PRKAR1A