Ngaba kukho umntu kusapho lwakho, ingakumbi emncinci, oye waba nomhlaza wamathumbu amakhulu? Okanye ngaba ugqirha ukuxelele ukuba unee-polyps ezininzi kumathumbu amakhulu? Mhlawumbi oku kungenxa yemeko yemfuza eyenzeka kwiintsapho. Namhlanje siza kuthetha ngenye imeko engaqhelekanga kodwa ebaluleke kakhulu. Yi-FAP, okanye i-Familial Adenomatous Polyposis. Nangona eli gama liyinkimbinkimbi kancinci, masiliqonde ngokulula.
Kalula nje, yintoni i-FAP?
I-FAP yimeko yemfuza enokudluliselwa kwizizukulwana ngezizukulwana. Abantu abanale meko bakhula inani elikhulu leethumba ezibizwa ngokuba yi-adenomas , ezinokukhula zibe ngumhlaza, kumathumbu abo nakwi-rectum.
Ngoku usenokuba ucinga, "Ngaba kuyinto eqhelekileyo ukuba ne-cyst kumathumbu akho?" Ewe, kuqhelekile ukuba abanye abantu bavelise i-cyst enye okanye ezimbini njengoko bekhula. Kodwa umntu one-FAP unokuphuhlisa amakhulu, mhlawumbi amawaka, ezi cysts. Kwaye iqala emncinci kakhulu, mhlawumbi eneminyaka eli-15 okanye eli-16 ubudala.
Ezi polyps azinawo umhlaza ekuqaleni. Kodwa zibizwa ngokuba 'zingaphambi komhlaza'. Oku kuthetha ukuba ukuba azinyangwa, kukho umngcipheko omkhulu wokuba enye okanye ezingaphezulu kwezi polyps ekugqibeleni ziya kuba ngumhlaza we-colorectal .
Khawuthelekelele indlela ekunokuba nzima ngayo ukususa amakhulu ezi thumba nganye nganye. Akunakwenzeka. Yiyo loo nto, ukuze kulawulwe le ngozi inkulu, oogqirha bacebisa ukuba kususwe amathumbu amakhulu ngotyando, kwenziwe i-colectomy epheleleyo . Ngamanye amaxesha, i-rectum nayo iyasuswa (proctocolectomy).
Ngaphandle kolu tyando, uninzi lwabantu abane-FAP lunokuba nomhlaza xa bekwiminyaka ephakathi. Kwakhona, abantu abane-FAP basengozini yokufumana amathumba kungekuphela nje kumathumbu amakhulu kodwa nakwezinye iindawo zomzimba (umzekelo, isisu, amathumbu amancinci, ulusu, kunye namathambo). Ngenxa yoko, nokuba ikoloni isusiwe, baya kufuna ukuvavanywa rhoqo ngugqirha ubomi babo bonke.
Iyintoni ingozi yomhlaza nge-FAP?
Ukuba ayinyangwa, i-FAP inethuba eliphantse libe yi-100% lokufumana umhlaza wamathumbu amakhulu. Le yimeko enzulu kakhulu. Abantu abane-FAP baba nomhlaza besebancinci kakhulu kwaye ngesantya esikhawulezayo kunomntu oqhelekileyo. Ke ngoko, ukuba uyazi ukuba kukho imbali yosapho ene-FAP, umntwana wakho kufuneka enziwe i-colonoscopy rhoqo ngonyaka ukususela eneminyaka eli-10 ubudala.
Ukongeza kumhlaza wamathumbu amakhulu, abantu abane-FAP nabo basengozini yokuhlaselwa zezinye iintlobo zomhlaza.
| Uhlobo lomhlaza | Umngcipheko wokwenzeka ( ngengozi ) |
|---|---|
| Umhlaza weDuodenal | ~8% |
| Umhlaza we-thyroid we-Papillary | ~2% |
| Umhlaza wePancreatic | ~2% |
| Umhlaza wesibindi (iHepatoblastoma) - ingakumbi ebantwaneni | ~1.5% |
| Umhlaza wesisu | ~1% |
| Iithumba zobuchopho kunye nomqolo | Ngaphantsi kwe-1% |
Ngaba kukho iintlobo ezahlukeneyo ze-FAP?
Ewe, kukho uhlobo oluphambili lwe-FAP kunye nezinye iintlobo ezincinci ezahlukeneyo kancinci kwaye ezingenzima kangako. Masibone ukuba zeziphi.
| Uhlobo lwe-FAP | Inkcazo |
|---|---|
| I-FAP yakudala (i-FAP yakudala) | Olu lolona hlobo luxhaphakileyo. Iipolyps ezingaphezu kwe-100, mhlawumbi amawaka, zikhula kwikholoni. |
| I-Attenuated FAP (AFAP) | Oku akunabungozi kangako. Inani lee-cysts ezikhula emathunjini liphakathi kwama-20 ne-100. |
| Isifo sikaGardner | Oku kufana neClassic FAP, nto leyo ethetha ukuba kuvela iithumba ezingaphezu kwe-100. Ukongeza, ezinye iintlobo zeethumba zikhula nakwezinye iindawo zomzimba, umzekelo, eluswini, kwizicubu ezithambileyo, nasemathanjeni. |
| Isifo seTurcot | Oku kubangela ukuba kubekho iithumba ezininzi emathunjini, kunye nethumba elinomhlaza ebuchotsheni. |
Yintoni umahluko phakathi kwe-FAP kunye ne-Lynch Syndrome?
I-Lynch syndrome yenye imeko yemfuza enokudluliselwa kwizizukulwana ngezizukulwana kwaye yonyusa umngcipheko womhlaza wamathumbu amakhulu. Kodwa kukho umahluko omkhulu phakathi kwezi zimbini. Abantu abane-Lynch syndrome abaphuhli ngamakhulu ee-polyps, njengoko besenza kwi-FAP. Ngamanye amaxesha, i-polyps enye okanye ezimbini ziyakhula, kwaye zinokuba ngumhlaza ngokukhawuleza. Yiyo loo nto i-Lynch syndrome ngamanye amaxesha ibizwa ngokuba yimeko "engeyiyo i-polyposis". Zombini ezi meko zibangelwa ziziphene kwiijini ezahlukeneyo.
Zithini iimpawu ze-FAP?
Kwi-FAP, iithumba zamathumbu amakhulu ziqala ukukhula kwangethuba kakhulu kunakubantu ngokubanzi, rhoqo besebancinci. Ezi thumba zihlala zingabangeli zimpawu de zibe nkulu ngendlela eyingozi. Yiyo loo nto ukuhlolwa kubaluleke kangaka.
Nangona kunjalo, ngenxa yokuba inani lee-cysts likhulu kakhulu kwaye zikhula ngokukhawuleza, ngamanye amaxesha iimpawu zinokuvela. Ezi mpawu ziquka:
- Ukopha emqolo
- Urhudo oluqhubekayo
- Intlungu yesisu engapheliyo
Ukongeza koku, abantu abane-FAP banokuba neempawu zangaphandle ezinokubonwa ngugqirha ngokulula.
- Iidermatofibromas: Amaqhuma aqinileyo, afana nezibazi aphuma phantsi kolusu.
- Ii-Epidermal cysts: Iingqumba ezingqukuva ezizaliswe yi-keratin ezithi zibe phantsi kolusu.
- IiOsteomas:Iithumba ezingezizo umhlaza ezikhula emathanjeni. Ezi zihlala zibonakala ekhayeni okanye esinqeni.
- Amazinyo angaphezulu okanye amazinyo achaphazelekileyo: La mazinyo anokufunyanwa nge-X-ray yamazinyo.
- Amabala e-retina ane-pigmented (CHRPE): La mabala anokubonwa ngexesha lokuhlolwa kwamehlo. Nangona kunjalo, adla ngokungayichaphazeli indlela yokubona.
Yintoni eyona nto ibangela i-FAP?
Njengoko besitshilo ngaphambili, i-FAP ibangelwa kukuguquka kwezakhi zofuzo. Izakhi zofuzo ezichaphazela oku zibizwa ngokuba yi-APC (Adenomatous Polyposis Coli) .
Yonke into emzimbeni wethu ilawulwa ziijini, njengenkqubo yekhompyutha. Le jini ye-APC 'yijini yokuthintela ithumba'. Oko kukuthi, umsebenzi ophambili wale jini kukuthintela iiseli ukuba zingahlukani ngokungalawulekiyo kwaye zenze iithumba. Njengeebhuleki zemoto.
Umntu one-FAP une-gene ye-APC eguqukileyo, oko kuthetha ukuba inesiphako. Emva koko, njengemoto eneebhuleki eziphukileyo, iiseli zahlukana ngokungalawulekiyo kwaye zenze amakhulu eethumba.
Esi siphene semfuza sizuzwe njengelifa. Ukuba omnye wabazali une-APC gene mutation, umntwana unethuba lama-50% lokuyifumana njengelifa . Oku kuthetha ukuba umntwana ngamnye unokuyifumana okanye angayifumani. Nangona kunjalo, malunga nama-30% abantu abafunyaniswe bene-FAP abanayo imbali yosapho. Oku kuthetha ukuba esi siphene semfuza sivele emizimbeni yabo kutshanje (original mutation).
Ziziphi iingxaki ezinokubakho ze-FAP?
Eyona ngxaki ibalulekileyo neyingozi ekufuneka ilawulwe nge-FAP ngumhlaza wamathumbu amakhulu . Le ngxaki iyancipha kakhulu xa imathumbu amakhulu esuswa ngotyando. Nangona kunjalo, kukho ubunzima bokuphila ngaphandle kwamathumbu amakhulu. Inkqubo yokuhamba kwamathumbu iyatshintshwa. Ngenxa yoku, i-ileostomy pouch okanye i-ileal pouch ingasetyenziswa.
Ngenxa yokuba isiphene se-APC gene sikhona kwiseli nganye emzimbeni, iithumba zinokwakheka ngaphandle kwamathumbu. Ezinye zezi zinomngcipheko wokuba ngumhlaza.
- Iipolyps zeDuodenal: Ezi zikhula phantse kuye wonke umntu one-FAP. Inani elincinci lazo linokuphuhla libe ngumhlaza we-duodenum, i-bile duct, okanye i-pancreatic duct.
- Iipolyps zesisu: Nangona zenzeka kubantu abamalunga nama-90%, yipesenti encinci kuphela, malunga ne-1%, ekhula ibe ngumhlaza.
- Iithumba ezibangelwa yiDesmoid: Ezi azingomhlaza. Kodwa zinokuba nolaka kakhulu kwaye zinokusasazeka kwizitho zomzimba ezikufutshane kunye nemithambo yegazi, zizonakalisa. Kunzima ukuzisusa kwaye zinokubuya.
- Umhlaza we-thyroid: Oku kunokwenzeka kubantu abamalunga ne-2% abane-FAP. Aba badla ngokunyangeka ngokupheleleyo.
- Umhlaza wesibindi: i-hepatoblastoma, ingakumbi kubantwana abane-FAPKukho umngcipheko omncinci wokuba nomhlaza wesibindi ongaqhelekanga obizwa ngokuba yi-.
Iphathwa kwaye ilawulwa njani?
Isicwangciso sonyango lwe-FAP sinokwahlulwahlulwa sibe ziinxalenye ezimbini: utyando kunye novavanyo lobomi bonke.
1. Utyando
Uninzi lwabantu abane-FAP yakudala kuya kufuneka benze i -colectomy epheleleyo, equka ukususwa kwekholoni yonke, xa bekwiminyaka yabo yama-20 okanye engama-30. Ugqirha wakho uya kugqiba ukuba uza kulwenza nini kwaye njani olu tyando, ngokusekelwe kwimeko yakho.
2. Ukuhlolwa rhoqo
Kuya kufuneka wenze uvavanyo olwahlukeneyo ngaphambi nasemva kotyando, kwaye ubomi bakho bonke. Le yeyona ndlela ilungileyo yokukhusela ubomi bakho.
| Uhlobo lovavanyo | Injongo | Ixesha elicetyiswayo ngokubanzi |
|---|---|---|
| I-Colonoscopy | Ukujonga iithumba kumathumbu amakhulu nakwi-rectum. | Kwabo basengozini, rhoqo ngonyaka ukususela kwiminyaka eli-10 ukuya kutsho kutyando. |
| I-Sigmoidoscopy | Ukuhlola i-rectum okanye i-ileal pouch eseleyo emva kotyando. | Emva kotyando, rhoqo emva kweenyanga ezi-6 ukuya kwezi-12 okanye emva kweminyaka eyi-1-4. |
| I-endoscopy ephezulu | Ukujonga iithumba esiswini nasemathunjini amancinci (ikholoni). | Ngamaxesha athile njengoko kucetyisiwe ngugqirha. |
| Iskeni ye-ultrasound | Ngomhlaza we-thyroid okanye wesibindi. | Ngengcebiso kagqirha. |
| Iskeni ye-CT okanye ye-MRI | Ukujonga iithumba ezibangelwa yi-desmoid. | Ngengcebiso kagqirha. |
Ubomi bunjani nge-FAP?
Kuqhelekile ukuba uzive ulusizi kwaye wothukile xa ufumanisa ukuba unesifo sofuzo esifana nesi. Nangona kunjalo, ukwazi ngale meko kwangethuba yeyona ndlela ilungileyo yokulawula umngcipheko wakho womhlaza.
Ngonyango olufanelekileyo kunye nokuhlolwa rhoqo, umntu one-FAP unokuphila ubomi obuqhelekileyo, obude, nobunempilo . Emva kokuba ikholoni isusiwe, ingozi enkulu ivela kwezinye iintlobo zomhlaza zendlela yokugaya ukutya okanye iithumba ezibangelwa yi-desmoid. Kodwa ezi zinqabile kakhulu kunomhlaza wekholoni.
Nangona utyando lutshintsho olukhulu ebomini, ngobuchwepheshe obuphambili banamhlanje, utyando lwe-laparoscopic lunokukunceda uphile ngokukhawuleza.
Eyona nto ibalulekileyo kukwazi ukuba awuwedwa. Kukho oogqirha, usapho, kunye nabahlobo abanokukukhokela kwaye bakuxhase kolu hambo. Ngoko ke, ukuba unemibuzo okanye iinkxalabo, thetha nogqirha wakho ngazo ngokukhululekileyo.
Umyalezo Wokuya Ekhaya
- I-FAP sisifo esiyingozi kakhulu semfuza esidluliselwa kwizizukulwana ngezizukulwana kwaye sibangela ukuba kubekho amakhulu eethumba kwikholoni.
- Ukuba ayinyangwa, umngcipheko wokuba nomhlaza wamathumbu amakhulu usondele kwi-100%.
- Ukuba kukho umntu kusapho lwakho oye waba nomhlaza wamathumbu amakhulu okanye iithumba ezininzi eselula, thetha nogqirha wakho malunga nokufumana uvavanyo lwemfuza.
- Ukufunyanwa kwangoko kunye nokuhlolwa rhoqo kubalulekile ukuze kusindiswe ubomi. Abantwana abasemngciphekweni kufuneka baqale ukuhlolwa xa beneminyaka eli-10 ubudala.
- Unyango oluphambili lokuthintela umngcipheko womhlaza kukususwa kwamathumbu amakhulu ngotyando (colectomy).
- Ngonyango olufanelekileyo kunye nolawulo, ungaphila ubomi obupheleleyo nobunempilo nokuba une-FAP.
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