Wake wezwa ngomlando womndeni womdlavuza? Noma umuntu osemusha oqala umdlavuza ovame ukuthinta abantu abadala? Ngezinye izikhathi kungase kube nesizathu salezi zinto esingazazi. Yilokho esizokhuluma ngakho namuhla, isimo esingavamile sofuzo esisebenza emindenini futhi sandisa kakhulu ingozi yomdlavuza. Sibizwa ngokuthi i-Li-Fraumeni Syndrome.
Kalula nje, iyini i-Li-Fraumeni Syndrome?
Lesi yisimo esingavamile kakhulu sofuzo. Sibangelwa ukuguquka kwesinye sezakhi zofuzo emzimbeni wethu. Lolu shintsho lofuzo lwandisa kakhulu amathuba noma ingozi yokuthi wena nomndeni wakho nibe nohlobo olulodwa noma ngaphezulu lomdlavuza.
Cabanga ngalokhu: Umuntu onalesi simo unethuba elingu-90% lokuthola umdlavuza eneminyaka engu-60. Futhi, cishe ingxenye yalaba bantu iba nomdlavuza ngaphambi kweminyaka engu-40. Ikakhulukazi, abesifazane abane-Li-Fraumeni Syndrome banethuba elicishe libe yi-100% lokuthola umdlavuza webele empilweni yabo.
Lokhu kungase kuzwakale kusabisa kancane. Kodwa into ebalulekile ukuthi nakuba singenakukwazi ukuvimbela lesi simo, ngokuthola ukuhlolwa komdlavuza kusenesikhathi nangokujwayelekile nokuthola ukwelashwa okudingekayo , singawunciphisa kakhulu umthelela esinawo empilweni yethu.
Sivame kangakanani lesi simo?
I-Li-Fraumeni Syndrome iyisimo esingavamile kakhulu. Abacwaningi bathole imindeni engaba yi-1,000 kuphela emhlabeni wonke enalolu shintsho lwezakhi zofuzo. Ngakho-ke asikho isidingo sokuyesaba ngokungadingekile.
Ziyini izimpawu ze-Li-Fraumeni Syndrome?
Into ekhethekile lapha ukuthi azikho izimpawu ezithile ezihambisana nesimo esibizwa ngokuthi i-Li-Fraumeni Syndrome. Okusho ukuthi, umuntu onalesi simo akaboni zinguquko ngaphandle.
Ngakho-ke ubona kanjani lokhu? Isibonakaliso esiyinhloko salesi simo ukuvela kwezinhlobo ezithile zomdlavuza usemncane . Ngakho-ke, izimpawu ozizwayo zizoncika ohlotsheni lomdlavuza onalo. Isibonelo, umdlavuza wobuchopho uzobonisa izimpawu ezihlobene nalokho, kanti umdlavuza webele uzobonisa izimpawu ezihlobene nalokho.
Yiziphi izinhlobo zomdlavuza ezivame ukuhlotshaniswa nalesi simo?
Izinhlobo zomdlavuza ezingaphezu kweshumi ziye zahlotshaniswa ne-Li-Fraumeni Syndrome. Eminye imidlavuza ivame kakhulu kubantu abanalesi simo kangangokuthi ibizwa ngokuthi "imidlavuza eyinhloko." Ake sibheke ukuthi iyini.
| Isigaba somdlavuza | Incazelo |
|---|---|
| Umdlavuza Oyinhloko | |
| Ama-Sarcomas | Umdlavuza owenzeka emathanjeni (i-Osteosarcoma) kanye nasezicutshini ezithambile (i-Soft Tissue Sarcoma). |
| Umdlavuza Webele | Abesifazane abanalesi simo basengozini enkulu yokuba naso cishe ngo-100%. |
| Umdlavuza Wobuchopho | Lokhu kufaka phakathi izinhlobo ezahlukene ezifana ne-Gliomas, i-Choroid Plexus Carcinoma, kanye ne-Medulloblastoma. |
| I-Adrenocortical Carcinoma | Umdlavuza okhula engxenyeni engaphandle yezindlala ze-adrenal, ezitholakala ngaphezu kwezinso zethu. |
| I-Leukemia | Lokhu kufaka phakathi i-leukemia ebukhali, umdlavuza wamaseli egazi. |
| Eminye imidlavuza engavamile ukuhambisana nayo | |
| Umdlavuza wamathumbu amakhulu, umdlavuza wezinso, i-lymphoma, umdlavuza wamaphaphu, umdlavuza wesibeletho, umdlavuza we-pancreatic, umdlavuza we-prostate, umdlavuza wesikhumba, umdlavuza wesisu, umdlavuza wamasende, umdlavuza we-thyroid. | |
Kungani lesi simo senzeka?
Ukuze siqonde ukuthi kungani lokhu kunjalo, sidinga ukwazi ngomqaphi omncane emzimbeni wethu. Sine -gene ebizwa ngokuthi i-TP53 . Ifana "nengelosi yomqaphi" emzimbeni wethu. Umsebenzi oyinhloko walesi gene ukuvimbela amangqamuzana emzimbeni wethu ukuthi angakhuli ngendlela engavamile futhi engalawuleki abe yizimila.
Iphrotheni ekhiqizwa yilesi sakhi sofuzo se-TP53 ibizwa ngokuthi iphrotheni ye-P53. Yilokhu okwenza lowo msebenzi wokuqapha.
Manje, okwenzekayo kumuntu one-Li-Fraumeni Syndrome ukuthi kukhona ushintsho, noma ukuguquka kwezakhi zofuzo ezivikelayo ezibizwa ngokuthi i-TP53 . Okwenzekayo ukuthi izakhi zofuzo azikwazi ukukhiqiza iphrotheni ye-P53 esebenza kahle. Lapho lesi sakhi sofuzo esivikelayo silahleka, amangqamuzana aqala ukuhlukana ngokungalawuleki. Yilokho okuthuthuka kube umdlavuza.
Ngokuvamile, ingane izuza leli jini le-TP53 elingasebenzi kahle kubazali bayo. Lokhu kubizwa ngokuthi i- Autosomal Dominant Pattern . Kalula nje, noma ngabe umzali oyedwa kuphela ozuza leli jini elingasebenzi kahle, kungaba ngumama noma ubaba, ingane isengaba nalesi simo futhi ibe nengozi enkulu yokuba nomdlavuza .
Kodwa-ke, akuvamile kakhulu, lolu shintsho lwezakhi zofuzo lungenzeka emzimbeni womuntu ngaphandle kokuba noma ubani emndenini abe nalesi simo. Lokhu kubizwa ngokuthi i-De Novo Mutation.
Lesi simo sitholakala kanjani?
Odokotela basebenzisa ukuhlolwa kofuzo ukuze bathole lesi simo. Kodwa ngaphambi kokwenza kanjalo, bazohlola kahle umlando wakho nowomndeni wakho wezokwelapha. Kunezizathu eziningana ezenza udokotela angase asole i-Li-Fraumeni Syndrome:
- Uma uke watholakala unomdlavuza we-sarcoma ngaphambi kokuba uneminyaka engu-45.
- Uma omunye wezihlobo zakho zezinga lokuqala (abazali, izingane zakini, izingane) etholakale enomdlavuza ngaphambi kokuba afinyelele eminyakeni engu-45.
- Uma kukhona izihlobo zakho zezinga lesibili (ogogo nomkhulu, o-anti, omalume, abashana, abashana) abatholakale benomdlavuza ngaphambi kokuba bafinyelele eminyakeni engu-45.
Uma kuhlangatshezwana nenye noma ngaphezulu yalezi zindlela, udokotela angakuthumela ukuthi uyohlolwa izakhi zofuzo.
Uma utholakale unalesi simo, into elandelayo ebaluleke kakhulu ukusebenza ohlelweni lokuhlolwa komdlavuza. Ngokubona udokotela wakho njalo nokuhlolwa, noma yimuphi umdlavuza oqalayo ungatholakala futhi welashwe kusenesikhathi .
Iphathwa kanjani?
Akukho ukwelashwa okuqondile kwesifo sofuzo i-Li-Fraumeni Syndrome. Odokotela belapha umdlavuza obangelwa yilesi simo. Ukwelashwa kufana kakhulu nalokho okunikezwa umuntu ongenaso lesi simo. Lokhu kufaka phakathi ukuhlinzwa kanye ne-chemotherapy.
Kodwa kukhona okuhlukile okubaluleke kakhulu lapha.
Abantu abane-Li-Fraumeni Syndrome bazwela kakhulu emisebeni. Ngakho-ke, kunengozi yokuthi kuvele umdlavuza omusha ngokwelashwa ngemisebe. Ngenxa yalesi sizathu, udokotela wakho uzozama ukugwema noma ukunciphisa ukwelashwa ngemisebe uma uba nomdlavuza.
Yini okufanele uyilindele uma uphila nalesi simo?
Ukwazi ukuthi une-Li-Fraumeni Syndrome kusho ukuthi wena nomndeni wakho kudingeka nisebenzele isimiso sokuhlolwa komdlavuza njalo. Ucwaningo lukhombisile ukuthi ukuhlolwa njalo kwandisa kakhulu amathuba okusindisa izimpilo kulaba bantu .
Lezi zikhathi zokuhlolwa zihlukile ezinganeni nakubantu abadala. Lokhu okulandelayo kuyisibonelo nje. Udokotela wakho uzokwakha isimiso esifanele wena.
| Iqembu lobudala | Igebe lesikhathi | Ukuhlolwa okufanele kwenziwe |
|---|---|---|
| Kwabantwana (kuze kube yiminyaka eyi-18) | ||
| Kuze kube yiminyaka eyi-18 ubudala | Njalo ezinyangeni ezi-3-4 | Ukuhlolwa okuphelele ngokomzimba kanye ne-ultrasound yesisu. |
| Kanye ngonyaka | I-MRI yobuchopho kanye ne-MRI yomzimba wonke. | |
| Kwabantu abadala | ||
| Abantu abadala | Njalo ezinyangeni ezi-6 | Ukuhlolwa kwebele ngudokotela (kusukela eminyakeni engu-20-25). |
| Kanye ngonyaka | Ukuhlolwa ngokomzimba, i-MRI yebele, i-MRI yobuchopho nomzimba wonke, ukuskena kwe-ultrasound yesisu ne-pelvic, ukuhlolwa kwesikhumba okuphelele komdlavuza wesikhumba. | |
| Njalo eminyakeni emi-2-3 | Ukuhlolwa kwe-Colonoscopy kanye ne-Upper Endoscopy. | |
Ingabe lesi simo asinakuvinjelwa?
Ayikho indlela yokuvimbela isimo sofuzo i-Li-Fraumeni Syndrome. Kuyinto eza nezakhi zofuzo zethu. Kodwa ungagwema izinto ezandisa ingozi yakho yokuba nomdlavuza.
- Gwema ukubhema ngokuphelele.
- Gwema ukuphuza utshwala ngokweqile .
- Uma uphuma elangeni, ungahlali ngaphandle isikhathi eside ungenazo izivikelo njenge-sunscreen .
Abanye besifazane basuswa amabele womabili ngokuhlinzwa ngaphambi kokuba umdlavuza ukhule ukuze kuncishiswe ingozi yokuba nomdlavuza webele. Lokhu kubizwa ngokuthi i-prophylactic mastectomy .
Ngisho noma unazo zonke lezi zinyathelo zokuphepha, umuntu onalesi simo angase abe nomdlavuza. Yingakho into engcono kakhulu ongayenza ukuthola ukuhlolwa njalo bese uthola umdlavuza kusenesikhathi uma kwenzeka.
Uzinakekela kanjani wena nomndeni wakho?
Ukuphila nesimo esinjalo impilo yonke kungaba nzima ngokomzimba nangokwengqondo.
1. Ungaphuthelwa ukuhlolwa: Landela isimiso sakho sokuhlolwa komdlavuza esinconyiwe ngqo.
2. Ukuhlela umndeni: Uma uhlela ukuba nezingane, kubaluleke kakhulu ukukhuluma nomeluleki wezakhi zofuzo. Udinga ukuqonda ingozi yokudlulisela lesi sakhi sofuzo esingalungile enganeni.
3. Impilo yengqondo: Ungathwali lo mthwalo wedwa. Funa usizo kumeluleki wezempilo yengqondo onolwazi lokusebenza neziguli ezinomdlavuza noma labo abanezifo ezingamahlalakhona. Buza udokotela wakho ngamaqembu okusekela afana nalawa.
Uma ubona noma yiziphi izinguquko ezingavamile emzimbeni wakho, njengobuhlungu noma iqhubu, ungakushayi indiva, ucabange ukuthi, "Lokhu kumele kube yinto evamile." Ungalindi kuze kube ukuhlolwa kwakho okulandelayo, kodwa bona udokotela wakho ngokushesha .
Umlayezo Wokuya Nawe Ekhaya
- I-Li-Fraumeni Syndrome iyisimo esingavamile, esizuzwe njengefa esikhulisa kakhulu ingozi yomdlavuza.
- Azikho izimpawu ezihlobene nalesi simo ngokwaso. Izimpawu zibangelwa umdlavuza owumphumela.
- Nakuba lesi simo singenakuvinjelwa, ukuhlolwa komdlavuza njalo nangokushesha kwandisa kakhulu amathuba okusindisa izimpilo.
- Uma unalesi simo, kubalulekile ukugwema ukwelashwa ngemisebe. Udokotela wakho cishe uzokwazi ngalokhu.
- Njengoba lokhu kuyifa, kubalulekile ukufuna iseluleko sezokwelapha mayelana nokudlulisela amanye amalungu omndeni ukuze ayohlolwa izakhi zofuzo.
- Njengempilo yomzimba, impilo yengqondo nayo ibaluleke kakhulu phakathi nalolu hambo. Unganqikazi ukufuna usizo uma uludinga.
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