Yintoni iGorlin Syndrome? Ungakhathazeki, masithethe ngayo ngokweenkcukacha!

Ngaba wakha waphawula amabala amatsha okanye amaqhuma ahlala ekhula eluswini lwakho? Okanye wakha weva ngamaqhuma angenabuhlungu emhlathini wakho? La asenokuba yinto eqhelekileyo. Nangona kunjalo, kwiimeko ezingaqhelekanga, ezi mpawu zisenokunxulunyaniswa nesifo esingaqhelekanga semfuza. Leyo yimeko esiza kuthetha ngayo namhlanje, ebizwa ngokuba yiGorlin Syndrome. Musa ukoyika xa usiva eli gama. Masithethe ngayo ngokulula, ngendlela onokuyiqonda.

Yintoni kanye kanye iGorlin Syndrome?

Ngamafutshane, i-Gorlin syndrome yimeko engaqhelekanga kakhulu yemfuza . Ikwaziwa nangamanye amagama, anje nge-`(Basal Cell Nevus Syndrome)`, `(Nevoid Basal Cell Carcinoma Syndrome - NBCCS)` kunye ne-`(Gorlin-Goltz Syndrome)`. Umntu onesi sifo usengozini enkulu yokufumana iithumba ezinomhlaza kunye nezingenamhlaza (oko kuthetha ukuba, azibangeli monakalo mkhulu emzimbeni). Ngokukodwa, kukho umngcipheko omkhulu wokufumana uhlobo lomhlaza wolusu olubizwa ngokuba yi -`(Basal Cell Carcinoma)` . Olu lolona hlobo luqhelekileyo lomhlaza wolusu.

Khawucinge nje, kukho ii-genes ezithile emzimbeni wethu, umsebenzi wazo ophambili kukulawula ukwahlukana okungeyomfuneko kweeseli kunye nokwakheka kwee-tumor. Sikwabiza ezi "genes suppressor genes". Ngoko ke, kwi-Gorlin syndrome, okwenzekayo kukuba kukho utshintsho, oko kukuthi, "uguquko" kwenye yezi genes. Yiyo loo nto umngcipheko wokufumana ii-tumor ukhula njengoko kukhankanyiwe.

Eyona nto ibalulekileyo kukuba akukho nyango lucacileyo lwe-Gorlin syndrome okwangoku . Kodwa ungakhathazeki! Ukuba ulandela imiyalelo kagqirha wakho ngokufanelekileyo, kwaye ukuba izinto ezifana nomhlaza zifunyenwe kwaye zinyangwa kwangethuba , umntu onesi sifo unokuphila ubomi obuqhelekileyo. Akunyanzelekanga ukuba ichaphazele ubomi bakho okanye umgangatho wobomi bakho.

Ixhaphake kangakanani le meko?

I-Gorlin syndrome yimeko engaqhelekanga kakhulu . Iingcali zithi nakwilizwe elifana ne-United States, le meko ichaphazela abantu abangaphantsi kwama-50,000. Nangona kunjalo, eli nani lisenokuba phezulu kakhulu. Isizathu kukuba abanye abantu baneempawu ezincinci kangangokuba abazi nokuba banale meko. Amaxesha amaninzi, iimpawu zivela kubantu abaselula okanye abaselula .

Zithini iimpawu zeGorlin Syndrome?

Iimpawu zesi sifo zingahluka ukusuka kumntu ukuya komnye, kodwa kukho ezinye iimpawu eziqhelekileyo:

Iimpawu ezibonakalayo kakhulu

• Ii-carcinomas ze-basal cell ezininzi: Olu hlobo lomhlaza wesikhumba ludla ngokuvela kwiindawo ezivezwe lilanga ezifana nobuso nentamo. Nangona kunjalo, kubantu abane-Gorlin syndrome, ezi zinokukhula besebancinci, bekwiminyaka yabo yokugqibela yeshumi elivisayo okanye bekwiminyaka engamashumi amabini .
• Ii-keratocysts ze-Odontogenic:Ezi zihluma ezingenabuhlungu, ezingenamhlaza ezikhula emhlathini. Zixhaphake kakhulu ebantwaneni nakubantu abadala abancinci abane-Gorlin syndrome.
• Imingxunya emincinci okanye imingxunya ezintendeni nasezinyaweni zeenyawo: Olu phawu lubonakala kakhulu kwiminyaka yoo-1920. Ezi zihlala zihleli.
• Utshintsho lwamathambo: Ezinye iinguqu zinokubonakala kwindlela ezibunjwa ngayo iimbambo nomqolo.

Iimpawu ezingaqhelekanga kakhulu

Ayingabo bonke abantu abaya kuba nezi mpawu, kodwa abanye abantu banokuba nazo:

• Iithumba zobuchopho: Ezi zinokuba ngumhlaza (i-medulloblastoma) okanye ezingezizo umhlaza (i-meningioma).
• Iifibroma zentliziyo okanye ama-ovari: Ezi azinazo iithumba ezibangela umhlaza, zihlala zingenabungozi.
• Iingxaki zamehlo: izinto ezifana ne-strabismus, i-nystagmus, kunye ne-cataracts.
• Utshintsho olukhulu emathanjeni: Umzekelo, ukungabikho ngokupheleleyo komqolo (i-spina bifida).
• Iimpawu zobuso ezingaqhelekanga: Umgama ongaphezulu phakathi kwamehlo (hypertelorism), ukuzalwa unomlomo/inkalakahla eqhekekileyo, kunye namabala amancinci amhlophe (milia) ebusweni.
• Intloko enkulu kuneqhelekileyo (i-macrocephaly).
• Ukukhubazeka kwengqondo.
• Iimeko zesifo sokuwa `(Ukuxhuzula)`.

Yintoni ebangela iGorlin Syndrome?

Njengoko sele sixoxile, le meko ibangelwa kukutshintsha kwezakhi zofuzo zethu. Ngokuchanekileyo, kukho izakhi zofuzo ezintathu emzimbeni wethu ezithintela ukwakheka kweethumba (ii-tumor suppressor genes). Zizakhi zofuzo ezibizwa ngokuba yi-``PTCH1``` (le yeyona ixhaphakileyo), ``PTCH2`` kunye ne-``SUFU```. Xa ezi zakhi zofuzo zingasebenzi kakuhle, ezinye iiseli ziqala ukukhula ngendlela engaqhelekanga. Yiyo loo nto ibangela iimpawu ezifana neethumba.

Uninzi lwabantu luzuze olu tshintsho lwezakhi zofuzo kubazali babo. Nangona kunjalo, kwezinye iimeko, olu tshintsho lwezakhi zofuzo lunokwenzeka ngokungacwangciswanga ngaphambi kokuzalwa, ngaphandle kwembali yosapho.

Olu tshintsho lwezakhi zofuzo luzuzwe njengelifa kwipateni "elawulayo ye-autosomal" . Ngamafutshane, ufumana i-gene eqhelekileyo evela komnye umzali kunye ne-gene eguquliweyo evela komnye. Kufuneka ube ne-PTCH okanye i-SUFU gene mutation ukuze uphuhlise i-Gorlin syndrome.

Izazinzulu zithi umntu one-Gorlin syndrome uba nomhlaza kuphela ukuba ikopi eqhelekileyo ye-tumor suppressor gene itshintshiwe ngandlela thile. Umzekelo, umonakalo ovela elangeni unokubangela ukuba i-gene elungileyo itshintshe. Emva koko, zombini ii-gene azisebenzi kakuhle, kwaye ii-tumor azinakunqandwa. Oku kubangelwa ngumhlaza wolusu. Kwaye ukuba ezinye iiseli emzimbeni zonakele ngale ndlela, ezinye iintlobo zomhlaza zinokukhula.

Oogqirha bayixilonga njani le meko?

Ukufumanisa isifo seGorlin, ugqirha wakho uya kwenza oku kulandelayo:

• Uvavanyo lomzimba: Jonga umhlaza wolusu.
• Uvavanyo lwemifanekiso: Jonga iithumba, ii-fibromas, okanye iingxaki zamathambo kumhlathi (umz., i-X-ray, i-CT scan, i-MRI scan).
• I-Biopsy: Inkqubo apho iqhekeza elincinci lesicubu lisuswa eluswini okanye kwiqhubu lize lihlolwe nge-microscope ukuze kubonwe ukuba linazo na iiseli zomhlaza.
• Uvavanyo lwemfuza: Kuthathwa isampuli yegazi ukujonga ukuba ngaba une-genetic mutation enxulumene ne-Gorlin syndrome.

Ziziphi iindlela zonyango lweGorlin Syndrome?

Nangona kungekho nyango luthile lwe-Gorlin syndrome ngokwayo, ukuba ukhula iithumba ezinomhlaza okanye ezibangela ezinye iingxaki, kunokufuneka uzinyange. Umzekelo:

• Umhlaza wolusu okanye ithumba lomhlathi lingasuswa ngotyando .
• Ezinye iindlela zonyango lomhlaza, ezinje ngeekhrimu ezisetyenziswa ngaphandle kwesikhumba okanye unyango olusebenzisa i-photodynamic, nazo zingasetyenziselwa ukutshabalalisa iiseli zomhlaza.

Ngenxa yokuba usengozini enkulu yokuba nomhlaza, ugqirha wakho unokucebisa ukuba usebenzise i-sunscreen efanelekileyo, unxibe impahla enemikhono emide, kwaye unxibe umnqwazi xa uselangeni. Kwakhona, iimvavanyo ezifana ne-X-ray zenziwa kuphela xa kuyimfuneko. Ngokubanzi, iingcali zomhlaza ziyakuphepha ukunika unyango lwemitha njengonyango lomhlaza kubantu abane-Gorlin syndrome. Oku kungenxa yokuba imitha inokunyusa umngcipheko womhlaza.

Ngaba iGorlin Syndrome ingathintelwa?

Asinakulawula iijini esizalwa nazo. Ngoko ke, akukho ndlela yokuthintela i-Gorlin syndrome. Nangona kunjalo, unganciphisa umngcipheko wokuba nomhlaza wolusu ngokuthatha amanyathelo okuthintela . Kwakhona, ngokufumana uhlolo lwezonyango rhoqo, unokubona umhlaza kwasekuqaleni. Emva koko kulula ukunyanga.

Ukuba une-Gorlin syndrome (okanye ukuba kukho umntu kusapho lwakho onayo) kwaye uceba ukuba nabantwana kwaye uxhalabile ukuba umntwana wakho angayizuza njengelifa, bonana nomcebisi wezemfuza . Baza kukuchazela iingozi kuwe nakwiqabane lakho.

Liza kuba njani ikamva kumntu ophila nale meko? (Imbono)

Abantu abaninzi balawula i-Gorlin syndrome ngokuthatha amanyathelo okuthintela umhlaza wolusu kunye nokuhlolwa rhoqo ngugqirha. Ngokufumana uhlolo lomhlaza rhoqo njengoko kucetyisiwe ngugqirha wakho, naziphi na iingxaki zinokufunyanwa kwangethuba . Abantu abane-Gorlin syndrome banokuphila ixesha elide kunye nabo bangenayo imeko njengabantu abangenayo imeko.

Kwakhona, eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba ayinguye wonke umntu one-Gorlin syndrome oza kuba nomhlaza okanye abe neengxaki ezifanayo. Iyahluka kumntu nomntu. Ugqirha wakho uza kukunika iingcebiso ngemeko yakho ngokusekelwe kwiimpawu zakho.

Ndingazinyamekela njani? (Ukuzinyamekela)

Ukuba une-Gorlin syndrome, kufuneka uthathe la manyathelo akhethekileyo ukuthintela umhlaza wolusu:

• Kuphephe ukusebenzisa iibhedi zokutshisa ilanga.
• Hlala endlini kangangoko unako xa ilanga liphezulu (10 kusasa ukuya ku-4 emva kwemini).
• Nxiba i-sunscreen ene-widespectrum ene-SPF engama-30 ubuncinane yonke imihla. Phinda uyifake rhoqo.
• Xa uphuma phandle, nxiba impahla ekhusela i-UV kunye nomnqwazi obanzi.

Kuya kufuneka ubone oogqirha abahlukeneyo ukuze uhlole umhlaza kunye nezinye iimeko. Ukuba kufuneka uye kangaphi kuya kuxhomekeka ekubeni bafumana na iithumba okanye ezinye izinto ezingaqhelekanga. Olu tyelelo loogqirha lungabandakanya:

• Yiya kujonga ulusu lwakho ngugqirha wesikhumba.
• Uvavanyo lwamazinyo kunye novavanyo lwemifanekiso ukujonga iithumba ezikwithambo lomhlathi.
• Uvavanyo lwemifanekiso ukujonga ii-fibromas, iithumba zobuchopho, okanye iingxaki zokubona.

Ndifanele ndimbone nini ugqirha?

Ukuba ukrokrela ukuba wena okanye umntwana wakho une-basal cell carcinoma, bonana nogqirha ngokukhawuleza . Olu lolona phawu luqhelekileyo lwe-Gorlin syndrome. Njengakwezinye iintlobo zomhlaza wolusu, qaphela naziphi na iziqwenga okanye amabala amatsha, ahlala ekho, okanye akhulayo.

Umhlaza wolusu awusoloko unxulunyaniswa ne-Gorlin syndrome, kodwa nokuba yintoni na imbangela, kubalulekile ukuba uhlolwe.

Yeyiphi imibuzo omele uyibuze ugqirha?

Ukuba ufunyaniswe une-Gorlin syndrome, ungabuza ugqirha wakho le mibuzo:

• Zeziphi iimpawu zomhlaza ekufuneka ndizazi?
• Kuza kufuneka ndihlolwe umhlaza kangaphi?
• Ndingenza ntoni ukunciphisa umngcipheko wokuba nomhlaza?
• Ngaba ndiza kufuna unyango lwezimila ezingezizo ezomhlaza?
• Ngawaphi amathuba okuba ndibe nomntwana one-Gorlin syndrome?

I-Gorlin syndrome iza nemingeni eliqela abantu abangenayo le meko abanokuthi bangayifumani. Ukuba une-NBCCS, wena kunye neqela lakho lezonyango kufuneka niqaphele ngakumbi ekuchongeni nasekunyangeni nayiphi na i-basal cell carcinoma ekhulayo.

Umyalezo Wokugqibela Wokuya Ekhaya

Iindaba ezimnandi zezokuba ii-basal cell carcinomas ziyanyangeka ngokupheleleyo ukuba zinyangwa kwangethuba. Kwakhona, ii-tumor ezingezizo umhlaza azidli ngokubangela iingxaki. Ukuba ziyanyangeka, ugqirha unokuzisusa okanye acebise ezinye iindlela zonyango. Ungaphila ubomi obude, obupheleleyo nge-Gorlin syndrome. Ngoko ke, ungoyiki, kodwa lumka. Landela iingcebiso zonyango ezifanelekileyo, kwaye yonke into iya kulunga!

Isifo sikaGorlin , i-NBCCS, i-basal cell carcinoma, izifo zemfuza, umhlaza wolusu, i-dermatology