Ingaba ufumana amabala amancinci emzimbeni wakho kunye namaqhuma esiswini sakho? Masifunde ngePeutz-Jeghers Syndrome (PJS)!

Ngamanye amaxesha izinto zinokwenzeka emizimbeni yethu esingazilindelanga, akunjalo? Khawuthelekelele ukuba wena okanye umntwana wakho ninamabala amancinci amnyama eluswini lwenu, ingakumbi emlonyeni, kwaye nineengxaki zesisu. Ezi zinto zisenokungabi lula njengoko nicinga. Namhlanje siza kuthetha ngemeko ebonisa iimpawu ezifanayo, engaqhelekanga, kodwa kubaluleke kakhulu ukwazi ngayo. Leyo yiPeutz-Jeghers Syndrome (PJS).

Yintoni iPeutz-Jeghers Syndrome (PJS)? Masiyiqonde ngokulula!

Ngamafutshane, iPeutz-Jeghers Syndrome (PJS) yimeko ebangela ukuba kubekho ukukhula okuncinci (iipolyps) emzimbeni wakho, kunye namabala amnyama ebusweni bakho, ezandleni, nasezinyaweni zeenyawo zakho. Zombini ezi kukhula namabala azingomhlaza ngokwenene, oko kuthetha ukuba azinabungozi . Nangona kunjalo, ukuba ne-PJS kwandisa kakhulu umngcipheko wakho wokuba nomhlaza.

La mabala amnyama (ngokwezonyango abizwa ngokuba yi-"mucocutaneous hyperpigmentation") abonakala kubantwana abancinci abane-PJS, kodwa ayanyamalala kancinci kancinci ngokuhamba kwexesha. Uhlobo lokukhula endikukhankanyileyo (olubizwa ngokuba yi-"hamartomatous polyps") ludla ngokukhula kwindlela yakho yokugaya ukutya (``(GI tract)''). Ahlala ebonakala emathunjini akho amancinci, esiswini, nakwithumbu elikhulu (``(colon)''). Nangona kunjalo, anokukhula ngaphandle kwendlela yokugaya ukutya, njengakwizintso zakho, kwisinyi, emiphungeni, nasempumlweni. La mabala anokuba ngumhlaza kwaye abangele iingxaki ezahlukeneyo ezifuna unyango.

Ukuba une-PJS, ugqirha wakho uya kujonga rhoqo umhlaza kunye neethumba ezinobungozi obukhulu.

Ixhaphake kangakanani le meko ye-PJS?

Kunzima ukutsho ukuba iqheleke kangakanani iPeutz-Jeghers Syndrome (PJS), kuba abaphandi abanawo amanani achanekileyo okwangoku. Kodwa bacinga ukuba inokuchaphazela naphi na ukusuka kwi-1 kwi-300,000 ukuya kwi-1 kwi-25,000. Ngoko ke, ewe, yimeko engaqhelekanga kakhulu .

Zithini iimpawu ze-PJS? Uzibona njani?

I-PJS ibangela ikakhulu amabala amnyama (la abonakala kubantwana abancinci) kunye ne-"hamartomatous polyps" (la abonakala kubantwana abancinci nakubantu abadala).

Amabala amnyama:

Abantwana abancinci abane-Peutz-Jeghers Syndrome bakhula ngamabala aluhlaza okwesibhakabhaka okanye amdaka. La mabala ngamanye amaxesha abhidaniswa namabala amdaka. La mabala adla ngokuqala ukubonakala xa umntwana eneminyaka eli-1-2 ubudala aze aphele kancinci xa efikelela kwiminyaka yabo yokugqibela yeshumi elivisayo. La mabala anokwahluka ngobukhulu ukusuka kwi-1 mm (malunga nobukhulu bencam yepensile ebukhali) ukuya kwi-5 mm (malunga nobukhulu berabha yepensile). Angavela kwiindawo ezahlukeneyo zomzimba:

• Emilebeni okanye ejikeleze (le yeyona ixhaphakileyo)
• Ngaphakathi emlonyeni
• Impumlo
• Emehlweni
• Iminwe
• Bamba
• Iibhotho
• Ejikeleze i-anus

Iimpawu ezibangelwa ziithumba kwindlela yokugaya ukutya:

Ezinye iimpawu zinxulumene nokukhula (iipolyps) kwinkqubo yokugaya ukutya (ingakumbi emathunjini okanye esiswini), okanye iingxaki ezibangelwa zezo zikhula. Ezi mpawu zihlala zibonakala xa uphakathi kweminyaka eli-10 nengama-30 ubudala. Iimpawu ezinokubangelwa zezi zikhula ziquka:

• Intlungu yesisu (`(Intlungu yesisu)`)
• Isicaphucaphu nokuhlanza (`(Isicaphucaphu nokuhlanza)`)
• Ukopha kwamathumbu (`(Ukopha kwamathumbu)`)
• Igazi elikwisitulo sakho (`(Igazi elikwisitulo sakho)`)
• I-anemia (amanqanaba esinyithi emzimbeni anokwehla ngenxa yokopha rhoqo)

Yintoni ebangela i-PJS?

Uninzi lwabantu abanePeutz-Jeghers Syndrome banotshintsho (okanye utshintsho) kwikopi enye yejini ebizwa ngokuba yi``STK11''. Le ``STK11'' yijini ethintela ithumba. Ngamanye amazwi, le jini ifana neswitshi elawula ukukhula kweeseli. Ukuba le jini ayisebenzi kakuhle, ifana nesibane esihlala sivuliwe kwaye singenamntu wokusicima. Iiseli ziyaqhubeka zahlukana kwaye zikhula, zidibana ukuze zenze iithumba.

Malunga nama-80% abantu abane-PJS bazuze i-gene mutation kubazali babo, oko kuthetha ukuba bayizuze kunina okanye kuyise. Amanye ama-20% ano-genome, kodwa akukho mntu kusapho lwabo okhe waba nale meko ngaphambili, okanye abanye abantu abanayo kwaphela i-genome. Abantu abane-gene mutation `(STK11)` abangenayo imbali yosapho kusenokwenzeka ukuba bakhe baba no-genome ngaxa lithile ebomini babo. Nangona kunjalo, izazinzulu azikayiqondi kakuhle indlela i-PJS ekhula ngayo ngaphandle kwe-gene mutation `(STK11)`.

I-PJS ivela njani kwisizukulwana?

Ngokwesiqhelo, umntwana ufumana i-PJS gene kumzali one-gene mutation. I-mutation ebangela i-PJS ifunyanwa njengelifa kwi-autosomal dominant pattern.

Kwenzeka ngolu hlobo: Bobabini abazali badlulisela ikopi enye yejini `(STK11)` kumntwana wabo. Ukuba usemngciphekweni omkhulu wokufumana iimpawu ze-PJS kunye neengxaki, kufuneka ukuba ulifumene eli jini liguqukileyo kumzali omnye kuphela.

Ukuba unayo le nguqu yezakhi zofuzo, kukho amathuba angama-50% okuba nomntwana wakho abe nayo.

Ziziphi iingxaki ezinokubakho ze-PJS?

Eyona ngxaki inzima yoku ngumhlaza . Abaphandi bathi ukuba une-PJS, umngcipheko wakho wokufumana umhlaza ebomini bakho ungafikelela kwi-93%. Yiyo loo nto ugqirha wakho eza kukuhlola rhoqo umhlaza. Ngale ndlela, unokubonwa kwangethuba kwaye unyangwe.

Ezinye iingxaki zezi:

• Ukungena kwamathumbu amancinci : Oku kwenzeka xa inxalenye yamathumbu akho amancinci igoba ngaphakathi, njengesokisi eqengqelekayo ngaphakathi. Oku kwenzeka xa ukukhula okukhulu (i-polyp) kuzama ukuhamba emathunjini. Le meko inokuchaphazela ukuya kuthi ga kwi-69% yabantu abane-PJS.
• Ukuvaleka kwamathumbu amancinci (`(Ukuvaleka kwamathumbu amancinci)`): Elo thumba linokulivala ithumbu lakho elincinci. Malunga nama-50% abantu abane-PJS baya kuba nokuvaleka kwamathumbu okufuna utyando ngaphambi kokuba bafikelele kwiminyaka engama-20 ubudala.
• Ukopha kwamathumbu : Iithumba zinokubangela uxinzelelo kwizicubu zendlela yokugaya ukutya, nto leyo ebangela ukopha.
• I-anemia yokunqongophala kwe-iron: Ukopha rhoqo kunokukhokelela ekwehleni kwamanqanaba e-iron emzimbeni, nto leyo ekhokelela kwi-anemia.

Kwabasetyhini, uhlobo lwethumba lesibeleko elibizwa ngokuba yi-"sex-cord tumors" kunye nohlobo olungaqhelekanga nolunzima lomhlaza wesibeleko olubizwa ngokuba yi-"adenoma malignanum". Ezi thumba zinokubangela imijikelo yokuya exesheni engacwangciswanga kunye nokufikisa kwasekuqaleni.

Amadoda anokuba neethumba zohlobo lwe-sex-cord kunye ne-Sertoli-cell kumasende abo. Oku kunokubangela ukuba akhule amabele (gynecomastia), adlule ebusheni kwangethuba, kwaye amathambo awo anokukhula ngokukhawuleza kunesiqhelo (ubudala obuphambili bamathambo), kwaye anokuba mafutshane kunesiqhelo.

Iyintoni ingozi yomhlaza enxulumene ne-PJS?

I-Peutz-Jeghers Syndrome (PJS) inyusa umngcipheko wokuba nomhlaza wenkqubo yokugaya ukutya kunye nezinye izitho zomzimba. Ukuba umntu one-PJS uba nomhlaza, udla ngokufunyaniswa eneminyaka engama-42 ubudala. Nazi iintlobo zomhlaza ezixhaphakileyo kubantu abane-PJS kunye namanani azo:

• Umhlaza weColoral: Ukufikelela kwi-40%.
• Umhlaza webele: 30% ukuya kuma-50%.
• Umhlaza wePancreatic (`(umhlaza wePancreatic)`): 11% ukuya kuma-36%.
• Umhlaza wesisu: Ukuya kuthi ga kwi-30%.
• Umhlaza wesibeleko (`(umhlaza wesibeleko)`): 20%.
• Umhlaza wemiphunga (`(Umhlaza wemiphunga)`): 15%.
• Umhlaza wamathumbu amancinci (`(Umhlaza wamathumbu amancinci)`): Ukuya kuthi ga kwi-13%.
• Umhlaza womlomo wesibeleko (`(umhlaza womlomo wesibeleko)`): 10%.
• Umhlaza wesibeleko: Ngaphantsi kwe-10%.
• Umhlaza wamasende: Ngaphantsi kwe-10%.
• Umhlaza wesisu: 2%.

Musa ukoyika xa ubona la manani omngcipheko. Eyona nto ibalulekileyo kukuvavanya ngexesha. Emva koko, ukuba kukho into, inokuchongwa kwaye inyangwe ngokukhawuleza.

Ungayixilonga njani i-PJS? (Ukuxilongwa)

Uninzi lwabantu abafunyaniswe bene-PJS baya kugqirha kuba beneempawu zokuvaleka kwamathumbu (ukuvaleka kwamathumbu) okanye i-intussusception (intussusception yamathumbu). Ubudala obuqhelekileyo apho i-PJS ifunyaniswa khona bumalunga neminyaka engama-23 ubudala. Oogqirha bakhangela oku kulandelayo ukuze baxilonge i-PJS:

• Imbali yokuba kukho nabani na kusapho one-PJS.
• Amabala amnyama emzimbeni.
• Iipolyps kwindlela yokugaya ukutya.

Kwakhona, bayajonga ukuba kukho utshintsho kwi-gene ye-`(STK11)`.

Zeziphi iimvavanyo ezenziwayo ukuze kufunyaniswe esi sifo?

Ugqirha wakho unokwenza iinkqubo ezahlukeneyo zokuthatha imifanekiso, ingakumbi iimvavanyo ezisebenzisa ityhubhu enekhamera (isikopu) ukukhangela amathumba ngaphakathi komphimbo wakho. Ezi vavanyo zingabandakanya:

• I-Colonoscopy : Le ihlola amathumbu akho amakhulu.
• I-Upper endoscopy : Le ihlola umphimbo wakho, isisu, kunye nenxalenye engentla yamathumbu amancinci.
• `(I-Capsule endoscopy)` : Kule nto, uginya i-capsule enekhamera encinci. Ithatha imifanekiso njengoko idlula kwinkqubo yakho yokugaya ukutya.

Ungathatha nesampulu yegazi ukujonga ukuba unayo na i-anemia enqongopheleyo kwi-iron. Ungenza novavanyo lwe-genetic egazini lakho ukuze ufumane ukuba unayo na i-STK11 gene mutation.

Inyangwa njani iPeutz-Jeghers Syndrome (PJS)?

Oogqirha bakho baza kujonga amalungu akho omzimba ikakhulu, oko kuthetha ukujonga umhlaza okanye ezinye iingxaki ezibangelwa ziithumba.

I-Colonoscopy inokususa iithumba emathunjini amakhulu. Ukuba kuyimfuneko, iithumba esiswini nakwinxalenye ephezulu yamathumbu amancinci (i-duodenum) nazo zinokuthathwa nge-biopsi kwaye zisuswe. Ngamanye amaxesha, uvavanyo olubizwa ngokuba yi-balloon-assisted enteroscopy lunokusetyenziswa ukubona nokususa iithumba ezinzulu emathunjini amancinci.

Kwezinye iimeko, utyando lunokufuneka ukuze kususwe iithumba. Oogqirha badla ngokususa iithumba nganye nganye, ngaphandle kokususa iindawo zamathumbu.

Luhlobo luni lovavanyo oluya kufuneka ndilwenze?

Le yeyona nxalenye ibalulekileyo. Ukuba une-PJS, kuya kufuneka wenze uvavanyo oluhlukeneyo rhoqo. Nangona oku kungabonakala kukucaphukisa kancinci, kubalulekile ukukhusela impilo yakho.

Ishedyuli yovavanyo ngokubanzi yile ilandelayo:

• `(CT/MRI enterography)` okanye `(video capsule endoscopy)` :
• Kufuneka iqale xa ineminyaka eyi-8 ukuya kweyi-10. Ukuba kukho iithumba, ziphinde rhoqo emva kweminyaka eyi-2 ukuya kweyi-3.
• Ukuba akukho zithumba, linda ude ube neminyaka eli-18 ubudala uze uqale uvavanyo kwakhona, uze ukwenze rhoqo emva kweminyaka emi-2-3.
• Ukuba sele kudlule ixesha, kufuneka uqale xa uneminyaka eli-12 ubudala. Ukuba uneziqhamo, zenze njalo ngonyaka, okanye rhoqo emva kweminyaka emi-2-3.
• `(I-endoscopy ephezulu)` :
• Ufanele uqale xa uneminyaka eli-12 ubudala. Ukuba uneentongomane, zenze rhoqo ngonyaka, okanye rhoqo emva kweminyaka emi-2-3.
• `(I-Magnetic resonance cholangiopancreatography (MRCP))` okanye `(i-endoscopic ultrasound)` :
• Ukususela kwiminyaka engama-25 ukuya kwengama-30 ubudala, kufuneka kwenziwe rhoqo emva kweminyaka eli-1 ukuya kwemibini.

Uvavanyo oluthile lwabasetyhini:

• Ukususela kwiminyaka engama-25 ubudala, jonga ugqirha ukuba amabele akho ahlolwe kabini ngonyaka.
• Ukuqala kwiminyaka engama-25 ubudala, fumana i-mammogram kunye ne-MRI yebele rhoqo ngonyaka.
• Ukususela kwiminyaka eli-18 ukuya kwengama-20 ubudala, yenza uvavanyo lwe-pelvic kunye ne-Pap smears rhoqo ngonyaka.
• Ukususela kwiminyaka eli-18 ukuya kwengama-20 ubudala, rhoqo ngonyaka kwenziwa i-`(transvaginal ultrasound)` (oku akuyomfuneko, ngokwengcebiso kagqirha).

Uvavanyo oluthile lwamadoda:

• Ukuqala kwiminyaka eli-10 ubudala, kufuneka uhlolwe amasende rhoqo ngonyaka. Kufuneka uqaphele naluphi na utshintsho olubangela ukuba umntu abe ngumfazi, njengokukhula kwamabele.

Ngaba iPeutz-Jeghers Syndrome (PJS) ingathintelwa?

Ekubeni i-PJS idla ngokuba yeyofuzo, akukho nto unokuyenza ukuyithintela ukuba ingakhuli.

Kodwa kukho izinto onokuzenza. Ukuba une-PJS, yazisa amanye amalungu osapho ngayo kwaye ubakhuthaze ukuba bafumane iingcebiso nge-genetic. Olu vavanyo luza kujonga i-PJS gene mutation. Ukuba nabo bane-STK11 gene mutation, baya kufumana iingcebiso zokunceda ukuthintela umhlaza kunye nokuhlala besempilweni.

Ukuba une-PJS, kukho amathuba angama-50% okuba nomntwana wakho abe notshintsho lwezakhi zofuzo. Kodwa kukho ezinye iindlela zokunciphisa loo mngcipheko.

Umzekelo, ukuba usebenzisa i-in vitro fertilization (IVF) ukuze ube nomntwana, ungazama inkqubo ebizwa ngokuba yi-preimplantation genetic diagnosis (PGD). I-PGD ibandakanya ukuvavanya ii-embryos ezichunyisiweyo ukuze ubone ukuba azinazo na iinguqu kwi-genetic.

Nangona kunjalo, i-PGD yinkqubo enzima kwaye ibiza kakhulu, ngoko ke kungcono ukuxoxa ngale nto nomcebisi wezofuzo ngaphambi kokuba wenze naziphi na izigqibo.

Bunjani ubomi ngePeutz-Jeghers Syndrome? (Imbono)

I-Peutz-Jeghers Syndrome (PJS) ayinakunyangwa. Yimeko ehlala ixesha elide kwaye inokudluliselwa kubantwana bakho. Ukuba une-PJS, kufuneka uhlolwe rhoqo ukuba awunazo na ii-polyps, kuba zinokuba ngumhlaza okanye zibangele ukuvaleka kwamathumbu okufuna utyando.

Ndimele ndibuze ntoni kugqirha wam?

Ukuba une-PJS, ungalibali ukubuza ugqirha wakho le mibuzo:

• Luhlobo luni lovavanyo ekufuneka ndilwenze? Kangaphi?
• Zeziphi iimpawu ekufuneka ndiqhagamshelane nawe ngoko nangoko ukuba ziyavela?
• Luhlobo luni lonyango endiludingayo?
• Ngabaphi abantu abachwephesha endiya kusebenza nabo?
• Ukuba ne-PJS kuza kuyichaphazela njani isicwangciso sam sokuzala?

Kubaluleke kakhulu ukuba umntu onePeutz-Jeghers Syndrome (PJS) asebenzisane ngokusondeleyo nogqirha wakhe ukuze ajonge imeko yakhe.. Ukuya rhoqo kugqirha kunokuba yinto edinisayo kwaye idinayo ngamanye amaxesha. Kodwa kubalulekile ukuhlala uqaphela impilo yakho. Ukufunyanwa kwangoko kwengxaki efana nomhlaza kunokukunceda kakhulu ekukuncedeni uphile ubomi obusempilweni nobude. Thetha nogqirha wakho malunga nendlela ukuxilongwa kwakho okuya kuyichaphazela ngayo indlela ophila ngayo kunye nempilo yakho yexesha elide.

Izinto esifanele sizikhumbule kweli bali (Umyalezo Wokubuyela Ekhaya)

Kulungile, masishwankathele ezinye zezona zinto zibalulekileyo ekufuneka sizikhumbule malunga nePeutz-Jeghers Syndrome (PJS) esithethe ngazo:

• I-PJS yimeko yemfuza ebangela ukuba kubekho iithumba emzimbeni, amabala eluswini, kunye nomngcipheko ophezulu womhlaza .
• Kubalulekile ukufuna ingcebiso kagqirha ukuba uneempawu ezifana namabala amnyama ajikeleze umlomo nasemalungeni (ingakumbi ebuntwaneni), iintlungu zesisu, kunye negazi esitulweni.
• Ekubeni oku kunokuba yinto yemfuza, ukuba kukho umntu kusapho onalo, licebo elihle ukuba nabanye bafumane uvavanyo lwemfuza kunye neengcebiso .
• Ukuba une-PJS, kubalulekile ukuba uhlolwe rhoqo . Oku kunokunceda ekufumaneni umhlaza kunye nezinye iingxaki kwangethuba.
• Nangona le yimeko yobomi bonke, ngokulawulwa ngokufanelekileyo ngugqirha kunye nonyango, ungaphila ubomi obuqhelekileyo . Musa ukoyika, kodwa qaphela.

Ukuba unemibuzo engaphezulu malunga noku, thetha nogqirha wakho. Banokukunika iingcebiso ezifanelekileyo kuwe.

Isifo sikaPeutz -Jeghers, i-PJS, isifo semfuza, izimila zesisu, amabala esikhumba, umngcipheko womhlaza, i-STK11 gene, i-colonoscopy, i-endoscopy