Uyasazi lesi simo esingavamile esibizwa ngokuthi iCarney Complex?

Ingabe umbala wesikhumba sakho ushintshe ngokuzumayo, noma uke waphawula amabala noma amabala angajwayelekile? Noma uke waphawula ukukhula okuncane, okunamaqhubu emzimbeni wakho? Ungase ukhathazeke kancane. Ngezinye izikhathi asizinaki kakhulu lezi zimpawu. Kodwa-ke, ngemuva kwalezi zimpawu, kungase kube nesimo esingavamile kakhulu esibizwa ngokuthi iCarney Complex esidinga ukunakwa okukhethekile. Ungakhathazeki, sizoxoxa ngalokhu kalula nangendlela ongayiqonda.

Iyini ngempela iCarney Complex?

Kalula nje, i-Carney Complex yisimo esithinta umbala wesikhumba sethu futhi sibangele ukuthi izimila ezingezona umdlavuza (ezingenobungozi), okungukuthi, izimila ezingavamile ukuba yingozi, zakheke ezicutshini zomzimba ezixhumeneyo kanye nezindlala ze-endocrine. Lokhu kuvame ukubangelwa imbangela yezakhi zofuzo. Okungukuthi, kubangelwa ushintsho (ukuguqulwa) kwezakhi zofuzo oluzuzwe njengefa kubazali ezinganeni.

Ingabe kukhona amanye amagama alokhu?

Yebo, iCarney Complex yaziwa nangamanye amagama amaningana. Udokotela wakho angasebenzisa elinye lala magama:

• I-Carney syndrome
• I-NAME syndrome - Izinhlamvu ezithi NAME zimelela i-nevi (amabala afana nophawu lokuzalwa), i-atrial myxoma (uhlobo lwesimila oluvela enhliziyweni), i-myxoid neurofibromas (uhlobo lwesimila oluhlobene nemizwa), kanye ne-ephelides (amabala).
• I-LAMB syndrome - Lokhu futhi kumele ama-lentigines (amabala ansundu), i-atrial myxoma, kanye ne-blue nevi (ama-birthmarks aluhlaza okwesibhakabhaka).

Ubani othola i-Carney syndrome? Ivame kangakanani?

I-Carney Complex yisimo esenzeka kubantu abazalwa benoguquko oluthile lwezakhi zofuzo. Kodwa-ke, abantu abaningi bangase bangazi ukuthi banalesi simo kuze kube yilapho kuvela izimpawu. Nakuba lezi zimpawu zingavela nganoma yisiphi isikhathi ebuntwaneni, abantu abaningi baxilongwa odokotela abaneminyaka engaba ngu-20.

Ngokuphathelene nokuthi lokhu kuvame kangakanani, iCarney Complex empeleni iyisimo esingavamile kakhulu . Cabanga nje, kunabantu abangaphansi kuka-750 emhlabeni abaye batholakala benalesi simo. Ngakho-ke asikho isidingo sokwesaba ngakho, kodwa kubalulekile ukuqaphela.

Kungani le Carney Complex ithuthuka? Iyini imbangela?

I-Carney Complex iyisifo esibangelwa ufuzo.. Lesi simo sibangelwa kakhulu ukuguquka kwezakhi zofuzo okubizwa ngokuthi (i-PRKAR1A gene). I-DNA ekulesi sakhi sofuzo ifundisa imizimba yethu ukuthi ingakha kanjani i-enzyme elawula iphrotheni ethile. Cabanga ngaleli sakhi sofuzo njengegumbi lokulawula eliyinhloko lefektri. Uma kukhona ukuguquka kule (i-PRKAR1A gene), iphrotheni ehlobene naleyo enzyme ayikwazi ukulawulwa kahle. Ngemuva kwalokho amaseli aqala ukukhula ngokungalawuleki nangokudlulele. Yileyo ndlela izinto ezifana nezimila eziqala ukwakheka ngayo.

Ezimweni eziningi, cishe u-70% we-Carney Complex ubangelwa ukuthi ingane ithole lolu shintsho lwezakhi zofuzo komunye wabazali bayo. Kodwa-ke, kwabanye abantu, lesi simo sibangelwa ukuguquka kwezakhi zofuzo okusha, okusho ukuthi akuzuzwanga kumzali.

Ingabe lokhu kuguquka kwezakhi zofuzo kuyimbangela kuphela?

Akuwona wonke umuntu one-Carney Complex ongase abe nokuguquka kwezakhi zofuzo. Abacwaningi bakholelwa ukuthi lesi simo singase sibangelwe izinguquko engxenyeni ye-chromosome (i-molecule equkethe izakhi zofuzo). Kodwa-ke, ucwaningo ngalokhu lusaqhubeka.

Yiziphi izimpawu eziyinhloko zeCarney Complex?

Uma une-Carney syndrome, ungase uqaphele izinguquko ezithile ekushintsheni kombala wesikhumba sakho.

• Amabala nama-lentigines: Lokhu kungavela noma kuphi emzimbeni, kodwa kuvame ukubonakala ku:
• Eduze kwamehlo
• Izindebe ziboshwe.
• Eduze kwendawo yangasese. La mabala angase abukeke njengamachashazi amancane ansundu, umbala webhontshisi wekhofi.
• I-nevi eluhlaza okwesibhakabhaka: Ngezinye izikhathi amabala okuzalwa aluhlaza okwesibhakabhaka noma amnyama angavela esikhumbeni.

Yiziphi ezinye izimpawu ngaphandle kokushintsha kwesikhumba?

Abanye abantu abane-Carney Complex bangase babe ne-cardiac myxoma. Lokhu kungaba yingozi kakhulu futhi kudinga ukunakwa okukhethekile. Ngaphezu kwalokho, izimila zingakhula kwezinye izindawo eziningana. Isibonelo:

• Amathambo
• Amabele
• Izitho zangasese
• Izindlala ezikhiqiza ama-hormone (uhlelo lwe-endocrine) - isibonelo, indlala yegilo kanye nezindlala ze-adrenal.
• Uhlelo lwezinzwa
• Isikhumba
• Ingxenye engenhla yomphimbo (i-oropharynx)

Into ebalulekile ukuthi iningi lamaqhubu akhula ngale ndlela awawona umdlavuza (angabi yingozi). Lokho kusho ukuthi awabangeli umonakalo omkhulu. Kodwa-ke, ezimweni ezingavamile, amanye amaqhubu angaba umdlavuza (ayingozi) . Yingakho kubalulekile ukuhlolwa njalo ngudokotela.

Ingabe lesi yisifo esithathelwanayo?

Cha, akunjalo nhlobo. I-Carney Complex ayisona isifo esithathelwanayo . Awukwazi ukusithola kumuntu onalesi simo.

Lesi sifo sihlolwa kanjani ngokunembile? (Ukuxilongwa)

Uma wena noma udokotela wakho nisola ukuthi une-Carney Complex, udokotela wakho uzoqala ngokukwenza ukuhlolwa ngokomzimba . Bazobuza nangomlando womndeni wakho. Ukuhlolwa kofuzo kungadingeka ukuqinisekisa ukuxilongwa.

Yiziphi izivivinyo ezisetshenziswa ekuxilongweni?

Kuye ngezimpawu wena noma ingane yakho enizizwayo, odokotela bangase batuse ukuhlolwa okuhlukahlukene. Ezinye zalezi zimpawu zifaka:

• I-Echocardiogram: Lokhu kuskena ukuhlola ukusebenza kwenhliziyo. Lokhu kubaluleke kakhulu ukuhlola izimila zenhliziyo.
• Ukuhlolwa kwegazi nomchamo: Lokhu kuhlolwa kwenziwa ukuhlola amazinga athile ama-hormone.
• Ukuhlolwa okuhlukahlukene kwezithombe: Ukuhlolwa okufana ne-ultrasound, i-CT scan, i-MRI, kanye ne-X-ray kusetshenziselwa ukubona ukuthi kukhona yini izimila emzimbeni.
• Ukuhlolwa kwesikhumba: Uma isilonda noma ukukhula kwesikhumba kusolisa, kuthathwa isampula encane yesikhumba bese ihlolwa ngaphansi kwe-microscope.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kubalulekile ukuqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo (i-PRKAR1A).

Yiziphi izindlela zokwelapha i-Carney Complex?

Udokotela uzoncoma ukwelashwa ngokusekelwe ezimpawini ezithile wena noma ingane yakho enazo. Ngokuyinhloko:

• Ukuhlinzwa kwenhliziyo okuvulekile ukuze kususwe izimila zenhliziyo: Izimila zenhliziyo zingaba yingozi futhi zidinga ukuhlinzwa ukuze zisuswe.
• Ukuhlinzwa ukuze kususwe izimila esikhumbeni noma ezindlala ezithile: Izimila esikhumbeni noma ezindlala zama-hormone nazo ziyasuswa ngokuhlinzwa, uma kudingeka.

Udokotela wakho uzokhuluma nawe ngezinketho zokwelapha ezikulungele kangcono.

Ingabe lokhu kungelapheka ngokuphelele?

I-Carney Complex iyisimo esihlala isikhathi eside . Lokhu kusho ukuthi ayinakwelapheka ngokuphelele. Kodwa ungakhathazeki, odokotela bangakusiza ukuthi uphathe izimpawu zakho futhi uphile impilo enempilo. Ngenxa yalokhu, ukwelashwa okufanele kanye nokubhekwa njalo kwezokwelapha kubaluleke kakhulu.

Ingabe zikhona izindlela zokunciphisa ingozi yokuthola lesi sifo?

Ayikho indlela yokuvimbela i-Carney Complex ngoba kuyisimo sofuzo. Kodwa-ke, uma ukhulelwe, ungenza isivivinyo esibizwa ngokuthi i-genetic amniocentesis ukuze ubone ukuthi ingane yakho inazo yini izinkinga zofuzo.

Ngingazi kanjani ukuthi ngisengozini yokuthola lesi sifo?

Uma kukhona emndenini wakho – ikakhulukazi abazali bakho – one-Carney Complex, kubaluleke kakhulu ukukhuluma nodokotela wakho ngakho ukuze kwenziwe izivivinyo ezidingekayo.

Uma ngineCarney Complex, yini okufanele ngiyilindele?

Uma une-Carney Complex, kufanele wazise udokotela wakho ngokushesha uma uthola izimpawu ezintsha. Udokotela wakho angase futhi ancome ukuhlolwa okuvamile ukuze kuqashwe amazinga akho ama-hormone kanye nempilo yakho iyonke. Isibonelo:

• I- echocardiogram yonyaka .
• Ukuhlolwa kwegazi.
• Ukuhlolwa kwesistimu ye-endocrine.
• Ukuhlolwa kwesikhumba.
• Kwabesilisa, ukuhlolwa kwamasende noma i-ultrasound.

Kuyoze kube nini ngiphila nalesi simo?

Njengoba kushiwo ngaphambili, iCarney Complex iyisimo esihlala isikhathi eside . Udokotela wakho uzoba ngumlingani obaluleke kakhulu ekuphatheni izimpawu zakho nokuhlala uphilile.

Yini engase ishiwo ngempilo yabantu abanalesi sifo?

Abantu abaneCarney Complex bangaphila isikhathi esijwayelekile sokuphila , kodwa into ebaluleke kakhulu ukuhlolwa njalo kwezokwelapha nokulandela iseluleko sezokwelapha.

Ingabe izimila zingabuya ngemva kokwelashwa?

Yebo, ngeshwa, ngezinye izikhathi izimila zingaphinde zivele ngemva kokwelashwa. Yingakho ukuhlolwa njalo kwezokwelapha kubalulekile.

Ingabe iCarney Complex ingumdlavuza?

Esikhathini esiningi, amaqhubu akhula eCarney Complex awabi nabungozi . Lokhu kusho ukuthi awabangeli monakalo omkhulu. Kodwa-ke, ngokuhamba kwesikhathi, amanye amaqhubu angaba umdlavuza/ayingozi . Ngakho-ke, kubaluleke kakhulu ukutshela udokotela wakho nganoma yiziphi izimpawu ezintsha nokwenza zonke izivivinyo ezidingekayo.

Yiziphi izinkinga ezingaba khona zeCarney Complex?

Yebo, lesi simo singabangela izinkinga ezithile.

• Uma unesimila e-pituitary gland yakho (ingxenye yesistimu ye-endocrine), singathinta ukukhiqizwa komzimba wakho kwe-growth hormone. Uma kukhiqizwa i-growth hormone eningi kakhulu, izimo ezilandelayo zingavela:
• Isifo samathambo
• Izinguquko esimweni sobuso
• Ukwanda okungajwayelekile kwezandla nezinyawo (i-acromegaly)
• Uma izimila zikhula kwezinye izindlala ze-endocrine, zingaholela ezimweni ezifana nalezi:
• I-Cushing's syndrome
• Isimila se-Sertoli esibangela ukubala kwamangqamuzana amakhulu (uhlobo lwesimila esikhula emasendeni)
• Isifo esiyinhloko se-pigmented nodular adrenocortical ( izimila zezindlala ze-adrenal)
• AmaSchwannoma(Uhlobo lwesimila esikhula emithanjeni)
• Amaqhubu e-thyroid ( izigaxa e-thyroid gland)

Nakuba lokhu kungase kuzwakale kuyinkimbinkimbi kancane, konke kuhlobene nesimiso samahomoni. Yingakho kunconywa ukuthi amazinga akho amahomoni ahlolwe njalo.

Kunini lapho umuntu one-Carney Complex kufanele abonane nodokotela?

Landela imiyalelo kadokotela wakho ngqo. Ungayeki ukuhlolwa okuhleliwe kanye nama-aphoyintimenti okulandelela nganoma yisiphi isizathu . Uma uthola izimpawu ezintsha, yazisa udokotela wakho ngokushesha.

Ingabe lokhu kungabanga isimo esiphuthumayo?

Yebo, ngezinye izikhathi izimo eziphuthumayo zingavela. Amathumba, ikakhulukazi lawo akheka enhliziyweni, angavimba ukuhamba kwegazi. Lokhu kungaholela ezimweni ezibucayi ezifana nesifo sohlangothi , ukwehluleka kwenhliziyo , noma ukumiswa kwenhliziyo ngokuzumayo . Ngakho-ke, funa usizo lwezokwelapha ngokushesha uma unezinye zalezi zimpawu:

• Izinguquko ekushayeni kwenhliziyo yakho
• Ukukhwehlela noma ukuphefumula
• Ukukhathala okuvamile
• Ukuphelelwa umoya
• Ukuvuvukala emzimbeni – ikakhulukazi esiswini, emaqakaleni, noma ezinyaweni.

Umyalezo Wokugcina Wokuya Nasekhaya

I-Carney Complex yisimo esingavamile kakhulu sofuzo esingabangela ukushintsha kombala wesikhumba kanye nezimila ezingengozini ezingxenyeni ezahlukene zomzimba, ikakhulukazi inhliziyo kanye nohlelo lwe-endocrine. Uma lezi zimila zibangela izinkinga, odokotela bangazisusa ngokuhlinzwa.

Nakuba lesi kuyisimo esihlala isikhathi eside, ngokulandela iseluleko esifanele sezokwelapha nokuhlolwa njalo, wena noma ingane yakho ningaphila impilo enempilo. Ngakho-ke, kubalulekile ukulalela lokho okushiwo udokotela wakho bese wenza ngokufanele. Ungakhathazeki, awuwedwa, futhi odokotela bakhona ukukusiza.

I- Carney Complex, amabala esikhumba, ukushintsha kombala wesikhumba, izimila zomzimba, izifo zofuzo, izinkinga zamahomoni, isifo senhliziyo, i-gene ye-PRKAR1A