Ngaba umntwana wakho unamabala amancinci amnyama ajikeleze imilebe yakhe, emlonyeni wakhe, okanye ezandleni zakhe? Unokucinga ukuba ngamabala nje. Kodwa ungamangaliswa kukufumanisa ukuba la mabala anokunxulunyaniswa nohlobo lwethumba elikhula emzimbeni, ingakumbi emathunjini. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebalulekileyo ekufuneka uyiqaphele. Oku kubizwa ngokuba yiPeutz-Jeghers Syndrome, okanye iPJS ngamafutshane.
Ngamafutshane, yintoni iPeutz-Jeghers Syndrome (PJS)?
I-Peutz-Jeghers Syndrome (PJS) yimeko yemfuza ebangela ukuba kubekho ukukhula okuncinci (ii-polyps) emizimbeni yethu kwaye kuvele amabala amnyama eluswini lwethu nangaphakathi emilonyeni yethu. Eyona nto ingcono kukuba la mabala kunye namabala awangomhlaza (angabi nobungozi) . Kodwa ingxaki kukuba abantu abane-PJS banomngcipheko omkhulu wokufumana umhlaza kwixesha elizayo kunabanye.
La mabala amnyama (ngokwezonyango abizwa ngokuba yi-'mucocutaneous hyperpigmentation') adla ngokubonakala ebuntwaneni. Kodwa ayaphela kancinci kancinci njengoko sikhula. Uhlobo lwethumba endilikhankanyileyo ('hamartomatous polyps') luhlala lukhula kwinkqubo yethu yokugaya ukutya ('indlela yokugaya ukutya'). Oko kukuthi, kwiindawo ezifana namathumbu amancinci, isisu, kunye nekholoni . Kodwa ngamanye amaxesha, anokukhula nakwiindawo ezifana nezintso, isinyi, imiphunga, kunye nempumlo. La mathumba anokubangela iingxaki ezahlukeneyo, kwaye ngamanye amaxesha anokujika abe ngumhlaza.
Ukuba une-PJS, ugqirha wakho uya kujonga rhoqo umhlaza kunye neethumba ezinobungozi obukhulu.
Ixhaphake kangakanani le sifo?
Le yimeko engaqhelekanga kakhulu. Nangona kungaziwa ukuba bangaphi abantu abanayo, abaphandi baqikelela ukuba ichaphazela umntu omnye kwabangama-300,000 kunye nomnye kwabangama-25,000 .
Zithini iimpawu ze-PJS?
I-PJS ikakhulu ibangela amabala amnyama (ebuntwaneni) kunye nee-polyps (kubantwana nakubantu abadala). Makhe sijonge ezi mpawu ngokwahlukeneyo.
| Uhlobo lwempawu | Izinto onokuzibona |
|---|---|
| Amabala Amnyama | Abantwana abane-PJS banokuba namabala aluhlaza okwesibhakabhaka okanye amdaka. Abanye abantu bacinga ukuba la mabala ngamabala nje. Ahlala ebonakala xa eneminyaka eyi-1-2 ubudala aze aphele xa eneminyaka eyi-18-19. Mancinci, anobukhulu obuyi-1 ukuya kwi-5 millimeters. La mabala abonakala kakhulu kwi:
|
| Iimpawu ezibangelwa ziipolyps | Iimpawu zeethumba zenkqubo yokugaya ukutya zihlala zibonakala phakathi kweminyaka eli-10 nengama-30 ubudala. Ziquka:
|
Kutheni le PJS iphuhla? Yintoni unobangela?
Uninzi lwabantu abane-PJS lune-mutation kwi-gene ebizwa ngokuba yi-STK11. I-STK11 yi- gene ethintela i-tumor. Ngamafutshane, umsebenzi wale gene kukulawula ukukhula okungalawulekiyo kweeseli emzimbeni wethu.
Cinga ngale gene njengeswitshi yokukhanyisa. Icima "ukukhanya" okulawula ukukhula kweeseli. Xa le gene ingasebenzi kakuhle, kuba ngathi iswitshi yaphukile kwaye ukukhanya kuhlala kuvuliwe. Ekubeni kungekho mntu uthintela iiseli ekukhuleni, ziyaqhubeka zahlukana kwaye zikhula kunye, zenze amathumba.
Malunga nama-80% abantu abane-PJS bazuza olu tshintsho lwezakhi zofuzo kunina okanye kutata wabo. Ama-20% aseleyo asenokuba awanalo imbali yosapho lwesi sifo, kodwa asenokuba nawo ngokwawo utshintsho lwezakhi zofuzo. Abanye abantu bahlakulela i-PJS ngaphandle kotshintsho kwizakhi zofuzo ze-STK11. Izazinzulu azikayazi ukuba kutheni kanye kanye.
Esi sifo sizuzwa njani njengelifa?
Ngokwesiqhelo, umntwana ufumana eli jini litshintshileyo kumzali omnye. Lifunyanwa lilifa ngendlela ethi "autosomal dominant". Oku kuthetha ukuba nokuba umama okanye utata ufumana eli jini litshintshileyo elithi "STK11" jini, umntwana usemngciphekweni omkhulu wokufumana iimpawu ze-PJS kunye neengxaki. Ukuba unalo olu tshintsho lwejini, umntwana wakho unethuba elingama-50% lokulifumana.
Ziziphi iingxaki ezinokubakho ze-PJS?
Eyona ngxaki inzima kakhulu ngumhlaza .Abaphandi bathi umntu one-PJS usengozini yokuba nomhlaza ubomi bakhe bonke ukuya kuthi ga kwi -93% . Yiyo loo nto oogqirha behlala behlola umhlaza baze bazame ukuwufumanisa kwangethuba.
Ezinye iingxaki zezi:
- Ukungena ngaphakathi: Oku kwenzeka xa i-polyp enkulu emathunjini amancinci ingena ize ibangele ukuba inxalenye yamathumbu igobe ngaphakathi. Le meko inokuchaphazela abantu abafikelela kwi-69% abane-PJS.
- Ukuvaleka kwamathumbu amancinci: Iithumba zinokuvaleka amathumbu amancinci. Malunga nama-50% abantu abane-PJS bavaleka amathumbu amakhulu afuna utyando ngaphambi kokuba bafikelele kwiminyaka engama-20 ubudala.
- Ukopha okuphuma kwindlela yokugaya ukutya: Iithumba zinokubangela uxinzelelo kwizicwili zamathumbu kwaye zibangele ukopha.
- I-anemia yokunqongophala kwe-iron: Ukopha rhoqo kubangela ukwehla kwe-iron emzimbeni, nto leyo ekhokelela kwi-anemia.
Iingxaki ezithile kubafazi nakumadoda
- Abafazi: Iithumba zesibeleko (iithumba zesini-intambo) kunye nohlobo lomhlaza olungaqhelekanga nolunzima olubizwa ngokuba yi-adenoma malignanum, olukhula kwisibeleko. Oku kunokubangela imijikelo yokuya exesheni engacwangciswanga okanye ukufikisa kwangethuba.
- Amadoda: Basenokuba neethumba kumasende (ii-tumors ze-Sertoli-cell). Oku kunokubangela ukukhula kwamabele (gynecomastia), ukufikisa kwasekuqaleni, kwaye amathambo abo anokukhula ngokukhawuleza kunesiqhelo, ekugqibeleni akhokelele ekubeni babe nobude obufutshane.
I-PJS kunye nomngcipheko womhlaza
I-PJS inyusa kakhulu umngcipheko wokuba nomhlaza wenkqubo yokugaya ukutya kunye nezinye izitho zomzimba. Ubudala obuqhelekileyo apho isigulana se-PJS sifunyaniswa sinomhlaza bumalunga neminyaka engama-42 ubudala.
| Uhlobo lomhlaza | Izinga lokwenzeka kwezigulane ze-PJS |
|---|---|
| Umhlaza weColoral | Ukuya kuthi ga kwi-40% |
| Umhlaza webele | 30% - 50% |
| Umhlaza wePancreatic | 11% - 36% |
| Umhlaza wesisu | Ukuya kuthi ga kwi-30% |
| Umhlaza wesibeleko | 20% |
| Umhlaza wemiphunga | 15% |
| Umhlaza wamathumbu amancinci | Ukuya kuthi ga kwi-13% |
Ifunyanwa njani i-PJS?
Abantu abaninzi bafunyanwa bene-PJS emva kokubona ugqirha ngenxa yeempawu ezifana nokuvaleka kwamathumbu okanye ukungena ngaphakathi emzimbeni. Ubudala obuqhelekileyo bokuxilongwa bumalunga neminyaka engama-23. Ukuze benze ukuxilongwa, oogqirha bajonga oku kulandelayo:
- Ngaba kukho umntu kusapho one-PJS?
- Amabala amnyama eluswini.
- Ingaba kukho iipolyps kwinkqubo yokugaya ukutya.
Ukongeza, uvavanyo lwemfuza lunokwenziwa ukuze kubonwe ukuba unayo na i-'STK11` gene mutation.
Uvavanyo lokufumanisa isifo
Ugqirha wakho unokucebisa uvavanyo olwahlukeneyo lokujonga iithumba emathunjini akho. Ezinye zazo ziquka:
- I-Colonoscopy: Uvavanyo lwamathumbu amakhulu kusetyenziswa ityhubhu enekhamera.
- I-endoscopy ephezulu: Uvavanyo lwe-esophagus, isisu, kunye nenxalenye ephezulu yamathumbu amancinci.
- I-Capsule endoscopy: Ukuginya i-capsule enekhamera encinci ngaphakathi. Le khamera ithatha imifanekiso njengoko ihamba kwindlela yokugaya ukutya.
Ungathatha nesampulu yegazi ukuze ubone ukuba unayo na i-anemia ngenxa yokungabikho kwe-iron.
Ziziphi iindlela zonyango ze-PJS?
I-PJS ayinakunyangwa ngokupheleleyo, ngoko ke injongo ephambili yonyango kukujonga umngcipheko womhlaza nokuthintela iingxaki ezibangelwa yi-tumor.
Oogqirha banokususa iithumba emathunjini amakhulu ngexesha le-colonoscopy. Banokususa neethumba esiswini nakwinxalenye ephezulu yamathumbu amancinci ukuba kuyimfuneko. Ngamanye amaxesha, iinkqubo ezikhethekileyo ezifana ne-balloon-assisted enteroscopy zisetyenziselwa ukususa iithumba ezikwi-intestine encinci.
Kwezinye iimeko, utyando lunokufuneka ukuze kususwe i-cyst.
Zeziphi iimvavanyo ekufuneka ndizihlole rhoqo?
Ukuba une-PJS, kuya kufuneka uhlolwe rhoqo ubomi bakho bonke ukuze ufumane umhlaza kunye nezinye iingxaki kwangethuba. Oku kunokubonakala kucaphukisa, kodwa kubalulekile ukukhusela ubomi bakho.
| Uhlobo lovavanyo | Lixesha lokukwenza |
|---|---|
| Uvavanyo oluqhelekileyo kubo bonke | |
| Uvavanyo lwamathumbu amancinci (i-CT/MRI enterography okanye i-video capsule endoscopy) | Ukuqala kwiminyaka eyi-8-10 ubudala, kwaye rhoqo emva kweminyaka eyi-2-3 ukuba kukho iithumba. |
| I-endoscopy ephezulu | Ukuqala xa uneminyaka eli-12 ubudala, rhoqo ngonyaka ukuba kukho iithumba, okanye rhoqo emva kweminyaka emi-2-3. |
| Uvavanyo lwePancreatic (MRCP okanye i-Endoscopic ultrasound) | Ukuqala kwiminyaka engama-25-30, kanye emva kweminyaka eyi-1-2. |
| Uvavanyo olukhethekileyo lwabasetyhini | |
| Uvavanyo lwebele | Ukususela kwiminyaka engama-25 ubudala, bonana nogqirha kabini ngonyaka kwaye wenze i-mammogram kunye ne-MRI yamabele rhoqo ngonyaka. |
| Uvavanyo lwezifo zabasetyhini | Uvavanyo lwePelvic kunye nePap smear minyaka le ukususela kwiminyaka eli-18 ukuya kwengama-20 ubudala. |
| Uvavanyo oluthile lwamadoda | |
| Uvavanyo lwamatyhalarha | Ukuhlolwa rhoqo ngonyaka ngugqirha ukususela kwiminyaka eli-10 ubudala. |
Ngaba esi sifo singathintelwa?
Ekubeni i-PJS idla ngokuba yimfuza, akukho nto sinokuyenza ukuyithintela ukuba ingakhuli.
Kodwa ukuba une-PJS, eyona nto ibalulekileyo onokuyenza kukwazisa usapho lwakho ngayo kwaye ubathumele kwingcebiso yezakhi zofuzo . Emva koko banokuvavanywa ukuba abanalo olu tshintsho lwezakhi zofuzo baze bafumane iingcebiso abazidingayo ukuthintela umhlaza.
Ukuba une-PJS, umntwana wakho unethuba elingama-50% lokuyifumana. Kodwa ngoku kukho iindlela zokunciphisa loo mngcipheko. Umzekelo, ukuba uzala umntwana nge-in vitro fertilization (IVF), indlela ebizwa ngokuba yi-preimplantation genetic diagnosis (PGD) ingasetyenziselwa ukujonga utshintsho lwe-gene kwi-embryo. Ezi ziinkqubo ezintsonkothileyo nezibiza kakhulu, ngoko ke kubalulekile ukuthetha nogqirha wakho ngale nto.
Umyalezo Wokuya Ekhaya
- I-Peutz-Jeghers Syndrome (PJS) sisifo esizuzwe njengelifa ngokwemfuza.
- Oku kubangela ukuba kubekho amabala amnyama eluswini ebuntwaneni, ingakumbi ejikeleze imilebe nangaphakathi emlonyeni.
- Iintsholongwane ezingezizo ezomhlaza (iipolyps) ziyavela kwinkqubo yokugaya ukutya, nto leyo enokubangela iingxaki ezifana neentlungu zesisu, ukopha, kunye nokuvaleka kwamathumbu.
- Umntu one-PJS usengozini enkulu kakhulu yokuba nomhlaza ebomini bakhe.
- Nangona esi sifo singenakunyangeka, ngokuhlolwa rhoqo ngugqirha (ukuhlolwa), iingxaki kunye nomhlaza zinokubonwa kwangethuba kwaye ubomi bunokusindiswa. Kubaluleke kakhulu ukuhlala unxibelelana nogqirha wakho.
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