Ingabe ingane yakho encane inamabala amancane amnyama azungeze izindebe zayo, emlonyeni wayo, noma ezandleni zayo? Ungase ucabange ukuthi amabala nje. Kodwa ungase umangale ukuzwa ukuthi la mabala angahlotshaniswa nohlobo lwesimila esikhula emzimbeni, ikakhulukazi emathunjini. Namuhla sizokhuluma ngesimo esingavamile kodwa esibalulekile okufanele usiqaphele. Lokhu kubizwa ngokuthi i-Peutz-Jeghers Syndrome, noma i-PJS ngamafuphi.
Kalula nje, iyini i-Peutz-Jeghers Syndrome (PJS)?
I-Peutz-Jeghers Syndrome (PJS) yisimo sofuzo esibangela ukwakheka kwama-polyp amancane emizimbeni yethu kanye namabala amnyama esikhumbeni sethu nangaphakathi kwemilomo yethu. Ingxenye engcono kakhulu ukuthi la ma-growth namabala awawona umdlavuza (angabi yingozi) . Kodwa inkinga ukuthi abantu abane-PJS basengozini enkulu kakhulu yokuthola umdlavuza esikhathini esizayo kunabanye.
Lezi zindawo ezimnyama (ezibizwa ngokuthi 'i-mucocutaneous hyperpigmentation') zivame ukubonakala ebuntwaneni. Kodwa ziyaphela kancane kancane njengoba sikhula. Uhlobo lwesimila engikhulume ngaso (`ama-hamartomatous polyps') luvame ukuvela ohlelweni lwethu lokugaya ukudla (`indlela yokugaya ukudla`). Okusho ukuthi, ezindaweni ezifana namathumbu amancane, isisu, kanye nekholoni . Kodwa ngezinye izikhathi, zingakhula nasezindaweni ezifana nezinso, esinyeni, emaphashini, kanye nasekhaleni. Lezi zimila zingadala izinkinga ezahlukahlukene, futhi ngezinye izikhathi zingaphenduka umdlavuza.
Uma une-PJS, udokotela wakho uzohlola njalo umdlavuza kanye nezimila eziyingozi kakhulu.
Sivame kangakanani lesi sifo?
Lesi yisimo esingavamile kakhulu. Nakuba kungaziwa kahle ukuthi bangaki abantu abanaso, abacwaningi balinganisela ukuthi sithinta phakathi koyedwa kubantu abangu-300,000 noyedwa kubantu abangu-25,000 .
Ziyini izimpawu ze-PJS?
I-PJS ibangela kakhulu amabala amnyama (ebuntwaneni) kanye nama-polyps (kokubili ezinganeni nakubantu abadala). Ake sibheke lezi zimpawu ngokwehlukana.
| Uhlobo lwesibonakaliso | Izinto okufanele uzibone |
|---|---|
| Izindawo Ezimnyama | Izingane ezine-PJS zingase zibe namabala aluhlaza okwesibhakabhaka noma ansundu. Abanye abantu bacabanga ukuthi lawa ngamabala nje. Ngokuvamile abonakala eneminyaka engu-1-2 ubudala futhi anyamalale eneminyaka engu-18-19. Mancane, angaba ngu-1 kuya ku-5 millimeter ngobukhulu. Lawa mabala avame ukubonakala ku:
|
| Izimpawu ezibangelwa ama-polyps | Izimpawu zezimila zesistimu yokugaya ukudla zivame ukuvela phakathi kweminyaka eyi-10 nengama-30. Zihlanganisa:
|
Kungani le PJS ikhula? Iyini imbangela?
Iningi labantu abane-PJS linoguquko ku-gene ebizwa ngokuthi i-STK11. I-STK11 iyi- gene evimbela umdlavuza. Kalula nje, umsebenzi walesi gene ukulawula ukukhula okungalawuleki kwamaseli emzimbeni wethu.
Cabanga ngaleli jini njengokushintsha kwesibani. Licima "ukukhanya" okulawula ukukhula kwamaseli. Uma leli jini lingasebenzi kahle, kuba sengathi ukushintsha kuphukile futhi ukukhanya kuhlala kuvuliwe. Njengoba kungekho muntu ovimba amaseli ekukhuleni, ayaqhubeka nokuhlukana futhi akhule ndawonye, akha amathumba.
Cishe abantu abangu-80% abane-PJS bazuza lolu guquko lwezakhi zofuzo kunina noma kuyise. Abangu-20% abasele kungenzeka ukuthi abanawo umlando womndeni walesi sifo, kodwa bangase bathuthukise lolu guquko lwezakhi zofuzo ngokwabo. Abanye abantu bathuthukisa i-PJS ngaphandle kokushintsha kwezakhi zofuzo ze-STK11. Ososayensi abakakazi ukuthi kungani ngempela.
Lesi sifo sizuzwa kanjani njengefa?
Ngokuvamile, ingane izuza leli jini elishintshiwe kumzali oyedwa. Lizuzwa ngephethini ethi ``autosomal dominant``. Lokhu kusho ukuthi kungakhathaliseki ukuthi umama noma ubaba bazuza leli jini elishintshiwe elithi ``STK11``, ingane isengozini enkulu yokuthola izimpawu nezinkinga ze-PJS. Uma unaleli jini elishintshiwe, ingane yakho inethuba elingu-50% lokulizuza.
Yiziphi izinkinga ezingaba khona ze-PJS?
Inkinga enkulu kakhulu umdlavuza .Abacwaningi bathi umuntu one-PJS usengozini yokuphila kwakhe konke yokuba nomdlavuza ofinyelela ku- 93% . Yingakho odokotela behlola njalo umdlavuza futhi bazama ukuwuthola kusenesikhathi.
Ezinye izinkinga yilezi:
- Ukungena ngaphakathi: Lokhu kwenzeka lapho i-polyp enkulu emathunjini amancane ingena futhi ibangele ukuthi ingxenye yamathumbu igobe ngaphakathi. Lesi simo singathinta abantu abangafika ku-69% abane-PJS.
- Ukuvaleka kwamathumbu amancane: Amathumba angavimba amathumbu amancane. Abantu abangaba ngu-50% abane-PJS bavaleka kakhulu kwamathumbu okudinga ukuhlinzwa ngaphambi kokuba bafinyelele eminyakeni engu-20.
- Ukopha okuvela emgudwini wokugaya ukudla: Amathumba angacindezela izicubu zamathumbu futhi abangele ukopha.
- I-anemia yokuntuleka kwensimbi: Ukopha okuqhubekayo kubangela ukwehla kwensimbi emzimbeni, okuholela ekuntulekeni kwegazi.
Izinkinga ezithile kwabesifazane nabesilisa
- Abesifazane: Izimila zesibeletho (izimila zobulili) kanye nohlobo lomdlavuza olungavamile nolubi kakhulu olubizwa ngokuthi i-adenoma malignanum, olukhula emlonyeni wesibeletho. Lokhu kungabangela imijikelezo yokuya esikhathini engajwayelekile noma ukuthomba kwasekuqaleni.
- Amadoda: Bangase babe nezimila emasendeni (izimila ze-Sertoli-cell). Lokhu kungabangela ukukhula kwebele (gynecomastia), ukuthomba kwasekuqaleni, futhi amathambo abo angakhula ngokushesha kunokujwayelekile, ekugcineni kuholele ekukhuleni okufushane.
Ingozi ye-PJS kanye nomdlavuza
I-PJS yandisa kakhulu ingozi yokuba nomdlavuza wesistimu yokugaya ukudla kanye nezinye izitho zomzimba. Isilinganiso seminyaka lapho isiguli se-PJS sitholakala sinomdlavuza sineminyaka engaba ngu-42 ubudala.
| Uhlobo lomdlavuza | Izinga lokwenzeka kweziguli ze-PJS |
|---|---|
| Umdlavuza we-Colorectal | Kufika ku-40% |
| Umdlavuza webele | 30% - 50% |
| Umdlavuza we-pancreatic | 11% - 36% |
| Umdlavuza wesisu | Kufika ku-30% |
| Umdlavuza wesibeletho | 20% |
| Umdlavuza wamaphaphu | 15% |
| Umdlavuza wamathumbu amancane | Kufika ku-13% |
I-PJS itholakala kanjani?
Abantu abaningi batholakala benesifo se-PJS ngemva kokuya kudokotela ngenxa yezimpawu ezifana nokuvaleka kwamathumbu noma ukungena ngaphakathi. Isilinganiso seminyaka yokuxilongwa sicishe sibe yiminyaka engama-23. Ukuze bathole ukuxilongwa, odokotela babheka okulandelayo:
- Ingabe ukhona emndenini one-PJS?
- Amabala amnyama esikhumbeni.
- Ingabe kukhona ama-polyp ohlelweni lokugaya ukudla.
Ngaphezu kwalokho, ukuhlolwa kofuzo kungenziwa ukuze kubonakale ukuthi unayo yini i-'STK11` gene mutation.
Ukuhlolwa kokuxilonga lesi sifo
Udokotela wakho angase ancome ukuhlolwa okuhlukahlukene ukuhlola izimila emathunjini akho. Ezinye zazo zifaka:
- I-Colonoscopy: Ukuhlolwa kwamathumbu amakhulu kusetshenziswa ipayipi elinekhamera.
- I-endoscopy Ephezulu: Ukuhlolwa komphimbo, isisu, kanye nengxenye engenhla yamathumbu amancane.
- I-Capsule endoscopy: Ukugwinya i-capsule enekhamera encane ngaphakathi. Le khamera ithatha izithombe njengoba ihamba ngomgudu wokugaya ukudla.
Ungathatha nesampula yegazi ukuze ubone ukuthi une-anemia ngenxa yokushoda kwensimbi.
Yiziphi izindlela zokwelapha i-PJS?
I-PJS ayikwazi ukwelapheka ngokuphelele, ngakho-ke umgomo oyinhloko wokwelashwa ukuqapha ingozi yomdlavuza nokuvimbela izinkinga ezibangelwa yilesi simila.
Odokotela bangasusa izimila emathunjini amakhulu ngesikhathi sokuhlolwa kwekholoni. Bangasusa nezimila esiswini nasengxenyeni engenhla yamathumbu amancane uma kudingeka. Ngezinye izikhathi, kusetshenziswa izinqubo ezikhethekile ezifana ne-balloon-assisted enteroscopy ukususa izimila eziya emathunjini amancane.
Kwezinye izimo, kungase kudingeke ukuhlinzwa ukuze kususwe i-cyst.
Yikuphi ukuhlolwa okudingeka ngikwenze njalo?
Uma une-PJS, kuzodingeka ukuthi uhlolwe njalo impilo yakho yonke ukuze uthole umdlavuza nezinye izinkinga kusenesikhathi. Lokhu kungase kubonakale kucasula kancane, kodwa kubalulekile ukuvikela impilo yakho.
| Uhlobo lokuhlola | Isikhathi sokukwenza |
|---|---|
| Ukuhlolwa okuvamile kwabo bonke | |
| Ukuhlolwa kwamathumbu amancane (i-CT/MRI enterography noma i-video capsule endoscopy) | Kusukela eminyakeni engu-8-10 ubudala, futhi njalo eminyakeni engu-2-3 uma kukhona izimila. |
| I-endoscopy ephezulu | Kusukela eminyakeni eyi-12, minyaka yonke uma kukhona izimila, noma njalo eminyakeni emi-2-3. |
| Ukuhlolwa kwe-pancreatic (MRCP noma i-Endoscopic ultrasound) | Kusukela eminyakeni engu-25-30, kanye njalo eminyakeni eyi-1-2. |
| Ukuhlolwa okukhethekile kwabesifazane | |
| Ukuhlolwa kwebele | Kusukela eminyakeni engu-25, bonana nodokotela kabili ngonyaka bese wenza i-mammogram kanye ne-MRI yebele njalo ngonyaka. |
| Ukuhlolwa kwezifo zabesifazane | Ukuhlolwa kwe-pelvic kanye ne-Pap smear minyaka yonke kusukela eminyakeni eyi-18-20. |
| Ukuhlolwa okuqondile kwabesilisa | |
| Ukuhlolwa kwamasende | Ukuhlolwa kwaminyaka yonke nodokotela kusukela eminyakeni eyi-10. |
Ingabe lesi sifo singavinjelwa?
Njengoba i-PJS ivame ufuzo, akukho esingakwenza ukuyivimbela ukuthi ingakhuli.
Kodwa uma une-PJS, into ebaluleke kakhulu ongayenza ukwazisa umndeni wakho ngakho bese ubathumela ukuze bathole ukwelulekwa ngofuzo . Ngemuva kwalokho bangahlolwa lolu shintsho lwezakhi zofuzo futhi bathole iseluleko abasidingayo ukuze bavimbele umdlavuza.
Uma une-PJS, ingane yakho inethuba elingu-50% lokuyithola. Kodwa manje kunezindlela zokunciphisa leyo ngozi. Isibonelo, uma uthola umntwana ngokuvundiswa kwe-in vitro (IVF), inqubo ebizwa ngokuthi i-preimplantation genetic diagnosis (PGD) ingasetshenziswa ukuhlola ukuguquka kwezakhi zofuzo kumbungu. Lezi yizinqubo eziyinkimbinkimbi futhi ezibizayo, ngakho-ke kubalulekile ukukhuluma nodokotela wakho ngalokhu.
Umlayezo Wokuya Nawe Ekhaya
- I-Peutz-Jeghers Syndrome (PJS) yisifo esizuzwe njengefa kakhulu.
- Lokhu kubangela ukwakheka kwamabala amnyama esikhumbeni esemncane, ikakhulukazi eduze kwezindebe nangaphakathi emlonyeni.
- Ukukhula okungenawo umdlavuza (ama-polyp) kwakheka ohlelweni lokugaya ukudla, okungabangela izinkinga ezifana nobuhlungu besisu, ukopha, kanye nokuvaleka kwamathumbu.
- Umuntu one-PJS usengozini enkulu kakhulu yokuthola umdlavuza ngesikhathi sokuphila kwakhe.
- Nakuba lesi sifo singelapheki, ngokuhlolwa njalo kwezokwelapha (ukuhlolwa), izinkinga nomdlavuza kungatholakala kusenesikhathi futhi impilo ingasindiswa. Kubaluleke kakhulu ukuhlala uthintana nodokotela wakho.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho