Ingabe uthola amabala amancane emzimbeni wakho kanye nezimila esiswini sakho? Ake sifunde nge-Peutz-Jeghers Syndrome (PJS)!

Ngezinye izikhathi izinto zingenzeka emizimbeni yethu esingazilindele, akunjalo? Cabanga ukuthi wena noma ingane yakho ninamabala amancane amnyama esikhumbeni senu, ikakhulukazi emlonyeni, futhi ninezinkinga zesisu. Lezi zinto zingase zingabi lula njengoba nicabanga. Namuhla sizokhuluma ngesimo esibonisa izimpawu ezifanayo, okuyinto engavamile kancane, kodwa kubaluleke kakhulu ukwazi ngaso. Leso yi-Peutz-Jeghers Syndrome (PJS).

Iyini i-Peutz-Jeghers Syndrome (PJS)? Masiyiqonde kalula!

Kalula nje, i-Peutz-Jeghers Syndrome (PJS) yisimo esibangela ukwakheka kwamaqhubu amancane (ama-polyp) emzimbeni wakho, kanye namabala amnyama ebusweni bakho, ezandleni, nasematheni ezinyawo zakho. Zombili lezi ziqhubu namabala empeleni azinawo umdlavuza, okusho ukuthi azinabungozi . Kodwa-ke, ukuba ne-PJS kwandisa kakhulu ingozi yakho yokuba nomdlavuza.

Lezi zindawo ezimnyama (ezibizwa ngezokwelapha ngokuthi ``mucocutaneous hyperpigmentation'') zibonakala ezinganeni ezincane ezine-PJS, kodwa ziyanyamalala kancane kancane ngokuhamba kwesikhathi. Uhlobo lokukhula engikushilo (olubizwa ngokuthi ``hamartomatous polyps'') luvame ukukhula endleleni yakho yokugaya ukudla (``(GI tract)''). Zivame ukubonakala emathunjini akho amancane, esiswini, nasemathunjini amakhulu (``(colon)''). Kodwa-ke, zingakhula nangaphandle kwendlela yokugaya ukudla, njengezinso zakho, esinyeni, emaphashini, nasekhaleni. Lokhu kukhula kungaba umdlavuza futhi kubangele izinkinga ezahlukahlukene ezidinga ukwelashwa.

Uma une-PJS, udokotela wakho uzohlola njalo umdlavuza kanye nezimila eziyingozi kakhulu.

Sivame kangakanani lesi simo se-PJS?

Kunzima ukusho ukuthi i-Peutz-Jeghers Syndrome (PJS) ivame kangakanani, ngoba abacwaningi abanazo izinombolo eziqondile okwamanje. Kodwa bacabanga ukuthi ingathinta noma yikuphi kusukela koyedwa kwabangu-300,000 kuya koyedwa kwabangu-25,000. Ngakho-ke, yebo, kuyisimo esingavamile kakhulu .

Ziyini izimpawu ze-PJS? Uzibona kanjani?

I-PJS ibangela kakhulu amabala amnyama (lawa abonakala ezinganeni ezincane) kanye nalokho okubizwa ngokuthi "ama-polyps e-hamartomatous" (lawa angabonakala ezinganeni ezincane nakubantu abadala).

Izindawo ezimnyama:

Izingane ezincane ezine-Peutz-Jeghers Syndrome ziba namabala aluhlaza okwesibhakabhaka noma ansundu. Ngezinye izikhathi lawa athathwa njengamabala anombala ophuzi. Lawa mabala avame ukuqala ukuvela lapho ingane ineminyaka engu-1-2 ubudala futhi kancane kancane ayanyamalala lapho ifinyelela eminyakeni yayo yokugcina yobusha. Lawa mabala angahluka ngobukhulu kusukela ku-1 mm (cishe usayizi wesihloko sepensela esibukhali) kuya ku-5 mm (cishe usayizi werabha yepensela). Angavela ezingxenyeni ezahlukene zomzimba:

• Ezindebeni noma eduze kwazo (lokhu kujwayelekile kakhulu)
• Ngaphakathi komlomo
• Impumulo
• Eduze kwamehlo
• Iminwe
• Bamba
• Amabhodlela
• Eduze kwendunu

Izimpawu ezibangelwa izimila endleleni yokugaya ukudla:

Ezinye izimpawu zihlobene nokukhula (ama-polyp) ohlelweni lokugaya ukudla (ikakhulukazi emathunjini noma esiswini), noma izinkinga ezibangelwa yilokho kukhula. Lezi zimpawu zivame ukuvela uma uneminyaka ephakathi kweyi-10 nengama-30. Izimpawu ezingabangelwa yilokhu kukhula zifaka:

• Ubuhlungu besisu (`(Ubuhlungu besisu)`)
• Isicanucanu nokuhlanza (`(Isicanucanu nokuhlanza)`)
• Ukopha kwamathumbu (`(Ukopha kwamathumbu)`)
• Igazi esitulweni sakho (`(Igazi esitulweni sakho)`)
• I-anemia (amazinga ensimbi emzimbeni angase ehle ngenxa yokopha njalo)

Yini ebangela i-PJS?

Iningi labantu abane-Peutz-Jeghers Syndrome linokuguquka (noma ushintsho) kukhophi eyodwa yesakhi sofuzo esibizwa ngokuthi ``STK11''. Le ``STK11'' iyisakhi sofuzo esicindezela isimila. Ngamanye amazwi, lesi sakhi sofuzo sifana nokushintsha okulawula ukukhula kwamangqamuzana. Uma lesi sakhi sofuzo singasebenzi kahle, sifana nokukhanya okuhlala kukhanya futhi okungenamuntu wokusicima. Amaseli ayaqhubeka nokuhlukana nokukhula, ehlangana ndawonye ukuze akhe izimila.

Cishe abantu abangu-80% abane-PJS bazuze i-gene mutation kubazali babo, okusho ukuthi bayizuza njengefa kunina noma kuyise. Abanye abangu-20% banayo i-genome, kodwa akekho emndenini wabo oke waba nalesi simo ngaphambili, noma abanye abantu abanayo nhlobo i-genome. Abantu abane-gene mutation `(STK11)` abangenawo umlando womndeni kungenzeka ukuthi bake baba nalesi shintsho esikhathini esithile empilweni yabo. Kodwa-ke, ososayensi abasenawo umbono ocacile wokuthi i-PJS ikhula kanjani ngaphandle kwe-gene mutation `(STK11)`.

I-PJS ivela kanjani ohlwini lozalo?

Ngokuvamile, ingane izuza i-PJS gene kumzali onokuguqulwa kwezakhi zofuzo. Ukuguqulwa kwezakhi zofuzo okubangela i-PJS kuzuza nge-autosomal dominant pattern.

Kwenzeka kanje: Bobabili abazali badlulisela ikhophi eyodwa ye-gene `(STK11)` enganeni yabo. Uma usengozini enkulu yokuthola izimpawu nezinkinga ze-PJS, kumelwe ukuthi uzuze le gene eguqukile kumzali oyedwa kuphela.

Uma unalolu shintsho lwezakhi zofuzo, kunethuba elingu-50% lokuthi nengane yakho nayo izoba nalo.

Yiziphi izinkinga ezingaba khona ze-PJS?

Inkinga enkulu yalokhu umdlavuza . Abacwaningi bathi uma une-PJS, ingozi yakho yokuphila konke yokuba nomdlavuza ingaba phezulu ngamaphesenti angama-93. Yingakho udokotela wakho ezokuhlola njalo umdlavuza. Ngaleyo ndlela, ungatholakala kusenesikhathi futhi welashwe.

Ezinye izinkinga yilezi:

• Ukungena kwamathumbu amancane : Lokhu kwenzeka lapho ingxenye yamathumbu akho amancane igoqeka ngaphakathi, njengesokisi eligoqeka ngaphakathi. Lokhu kwenzeka lapho ukukhula okukhulu (i-polyp) kuzama ukuhamba emathunjini. Lesi simo singathinta abantu abangafika ku-69% abane-PJS.
• Ukuvaleka kwamathumbu amancane (`(Ukuvaleka kwamathumbu amancane)`): Leso simila singavimba amathumbu akho amancane. Abantu abangaba ngu-50% abane-PJS bazohlushwa ukuvaleka kwamathumbu okudinga ukuhlinzwa ngaphambi kokuba bafinyelele eminyakeni engu-20.
• Ukopha kwamathumbu : Amathumba angafaka ingcindezi ezicutshini zomgudu wokugaya ukudla, okubangela ukopha.
• I-anemia yokuntuleka kwensimbi: Ukopha okuqhubekayo kungaholela ekwehleni kwamazinga ensimbi emzimbeni, okuholela ekuntulekeni kwegazi.

Kwabesifazane, uhlobo lwesimila sesibeletho esibizwa ngokuthi "sex-cord tumors" kanye nohlobo olungavamile nolubi kakhulu lomdlavuza wesibeletho olubizwa ngokuthi "adenoma malignanum". Lawa mathumba angabangela imijikelezo yokuya esikhathini engajwayelekile kanye nokuthomba kwasekuqaleni.

Amadoda angaba nezimila zohlobo lwe-sex-cord kanye ne-Sertoli-cell emasendeni awo. Lokhu kungabangela ukuthi akhule amabele (gynecomastia), adlule ebusheni kusenesikhathi, futhi amathambo awo angakhula ngokushesha kunokujwayelekile (ubudala obuthuthukisiwe bamathambo), futhi angase abe mafushane kunokujwayelekile.

Iyini ingozi yomdlavuza ehlotshaniswa ne-PJS?

I-Peutz-Jeghers Syndrome (PJS) yandisa ingozi yakho yokuba nomdlavuza wesimiso sokugaya ukudla nezinye izitho zomzimba. Uma umuntu one-PJS eba nomdlavuza, uvame ukutholakala eneminyaka engaba ngu-42. Nazi izinhlobo zomdlavuza ezivame kakhulu kubantu abane-PJS kanye namazinga azo:

• Umdlavuza we-Colorectal: Kufika ku-40%.
• Umdlavuza webele: 30% kuya ku-50%.
• Umdlavuza we-Pancreatic (`(umdlavuza we-Pancreatic)`): 11% kuya ku-36%.
• Umdlavuza wesisu: Kufika ku-30%.
• Umdlavuza wesibeletho (`(umdlavuza wesibeletho)`): 20%.
• Umdlavuza wamaphaphu (`(Umdlavuza wamaphaphu)`): 15%.
• Umdlavuza wamathumbu amancane (`(Umdlavuza wamathumbu amancane)`): Kufika ku-13%.
• Umdlavuza womlomo wesibeletho (`(umdlavuza womlomo wesibeletho)`): 10%.
• Umdlavuza wesibeletho: Ngaphansi kuka-10%.
• Umdlavuza wamasende: Ngaphansi kuka-10%.
• Umdlavuza wesisu: 2%.

Ungesabi uma ubona la maphesenti engozi. Into ebaluleke kakhulu ukuhlolwa ngesikhathi. Ngemuva kwalokho, uma kukhona okuthile, kungatholakala futhi kwelashwe ngokushesha.

Ungayithola kanjani i-PJS? (Ukuxilongwa)

Iningi labantu abatholakale benalesi sifo i-PJS liya kudokotela ngoba linezimpawu zokuvaleka kwamathumbu (ukuvaleka kwamathumbu) noma i-intussusception (i-intussusception yamathumbu). Isilinganiso seminyaka lapho i-PJS itholakala khona sineminyaka engaba ngu-23 ubudala. Odokotela bafuna okulandelayo ukuze baxilonge i-PJS:

• Umlando wokuthi kukhona yini emndenini one-PJS.
• Amabala amnyama emzimbeni.
• Ama-polyp endleleni yokugaya ukudla.

Futhi, bahlola ukuze babone ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-`(STK11)`.

Yiziphi izivivinyo ezenziwayo ukuze kutholakale lesi simo?

Udokotela wakho angenza izinqubo ezahlukene zokuthwebula izithombe, ikakhulukazi izivivinyo ezisebenzisa ipayipi elinekhamera (isikophu) ukubheka izimila ngaphakathi komphimbo wakho. Lezi zivivinyo zingafaka:

• I-Colonoscopy : Lokhu kuhlola amathumbu akho amakhulu.
• I-endoscopy ephezulu : Lokhu kuhlola umphimbo wakho, isisu, kanye nengxenye engenhla yamathumbu amancane.
• `(I-Capsule endoscopy)` : Kulokhu, ugwinya i-capsule enekhamera encane kuyo. Ithatha izithombe njengoba idlula ohlelweni lwakho lokugaya ukudla.

Ungathatha nesampula yegazi ukuhlola i-anemia yokuntuleka kwensimbi. Ungenza nokuhlolwa kwezakhi zofuzo egazini lakho ukuthola ukuthi une-STK11 gene mutation yini.

Iphathwa kanjani i-Peutz-Jeghers Syndrome (PJS)?

Odokotela bakho bazoqapha kakhulu izitho zakho zomzimba, okusho ukuthi bazohlola umdlavuza noma ezinye izinkinga ezibangelwa yizimila.

I-Colonoscopy ingasusa izimila emathunjini amakhulu. Uma kudingeka, izimila esiswini nasengxenyeni engenhla yamathumbu amancane (i-duodenum) nazo zingahlolwa futhi zisuswe. Ngezinye izikhathi, ukuhlolwa okubizwa ngokuthi i-balloon-assisted enteroscopy kungasetshenziswa ukubona nokususa izimila ezijulile emathunjini amancane.

Kwezinye izimo, kungase kudingeke ukuhlinzwa ukuze kususwe izimila. Odokotela abahlinzayo bavame ukususa izimila ngasinye, ngaphandle kokususa izingxenye zamathumbu.

Hlobo luni lokuhlolwa okuzodingeka ngilwenze?

Lena yingxenye ebaluleke kakhulu. Uma une-PJS, kuzodingeka wenze izivivinyo ezahlukahlukene njalo. Nakuba lokhu kungase kubonakale kucasula kancane, kubalulekile ukuvikela impilo yakho.

Uhlelo lokuhlola olujwayelekile lumi kanje:

• `(CT/MRI enterography)` noma `(video capsule endoscopy)` :
• Kufanele kuqale eneminyaka engu-8-10. Uma kukhona izimila, phinda njalo eminyakeni engu-2-3.
• Uma kungekho zimila, linda uze ube neminyaka eyi-18 bese uqala ukuhlola futhi, bese ukwenza njalo eminyakeni emi-2-3.
• Uma sekwephuze kakhulu, kufanele uqale uneminyaka engu-12. Uma unezithelo, kwenze njalo ngonyaka, noma njalo eminyakeni engu-2-3.
• `(I-endoscopy ephezulu)` :
• Kufanele uqale uneminyaka engu-12. Uma unezinathi, zenze njalo ngonyaka, noma njalo eminyakeni engu-2-3.
• `(I-Magnetic resonance cholangiopancreatography (MRCP))` noma `(i-endoscopic ultrasound)` :
• Kusukela eminyakeni engu-25-30, kufanele kwenziwe njalo eminyakeni engu-1-2.

Ukuhlolwa okuqondile kwabesifazane:

• Kusukela uneminyaka engu-25, hlolwa amabele kabili ngonyaka ngudokotela.
• Kusukela eminyakeni engu-25, thola i-mammogram kanye ne-MRI yebele njalo ngonyaka.
• Kusukela eminyakeni eyi-18 kuya kwengama-20, hlolwa izitho zangasese kanye ne-Pap smears njalo ngonyaka.
• Kusukela eminyakeni eyi-18 kuya kwengama-20, minyaka yonke kwenziwa i-`(transvaginal ultrasound)` (lokhu akubalulekile, ngokweseluleko sikadokotela).

Ukuhlolwa okuqondile kwabesilisa:

• Kusukela eminyakeni eyi-10, kufanele uhlolwe amasende njalo ngonyaka. Kufanele futhi uqaphele noma yiziphi izinguquko ezithinta abesifazane, njengokukhula kwamabele.

Ingabe i-Peutz-Jeghers Syndrome (PJS) ingavinjelwa?

Njengoba i-PJS ivame ufuzo, akukho lutho ongakwenza ukuyivimbela ukuthi ingakhuli.

Kodwa kunezinto ongazenza. Uma une-PJS, yazisa amanye amalungu omndeni ngakho futhi ubakhuthaze ukuthi bathole ukwelulekwa ngofuzo. Lokhu kuhlola kuzohlola ukuguquka kofuzo lwe-PJS. Uma nabo bene-STK11 gene mutation, bazothola izincomo zokusiza ukuvimbela umdlavuza nokuhlala bephilile.

Uma une-PJS, kunethuba elingu-50% lokuthi ingane yakho nayo izoba nokuguqulwa kwezakhi zofuzo. Kodwa kunezindlela ezithile zokunciphisa leyo ngozi.

Isibonelo, uma usebenzisa ukukhulelwa kwe-in vitro (IVF) ukuze ube nomntwana, ungase ufune ukuzama inqubo ebizwa ngokuthi i-preimplantation genetic diagnosis (PGD). I-PGD ihilela ukuhlola ama-embryo avundisiwe ukuze kutholakale izinguquko zofuzo.

Kodwa-ke, i-PGD iyinqubo eyinkimbinkimbi futhi ebiza kakhulu, ngakho-ke kungcono ukuxoxa ngalokhu nomeluleki wezakhi zofuzo ngaphambi kokwenza noma yiziphi izinqumo.

Impilo injani nge-Peutz-Jeghers Syndrome? (I-Outlook)

I-Peutz-Jeghers Syndrome (PJS) ayinakwelashwa. Yisimo esihlala isikhathi eside futhi singadluliselwa ezinganeni zakho. Uma une-PJS, kufanele uhlolwe njalo ukuthi awunazo yini izinhlayiya, njengoba zingaba umdlavuza noma zibangele ukuvinjelwa kwamathumbu okudinga ukuhlinzwa.

Yini okufanele ngiyibuze udokotela wami?

Uma une-PJS, ungakhohlwa ukubuza udokotela wakho le mibuzo:

• Hlobo luni lokuhlolwa engizodinga ukulwenza? Kangaki?
• Yiziphi izimpawu okufanele ngixhumane nawe ngokushesha uma zivela?
• Hlobo luni lokwelashwa engiludingayo?
• Ochwepheshe abanjani engizosebenza nabo?
• Ukuba ne-PJS kuzothinta kanjani izinhlelo zami zokuzala?

Kubaluleke kakhulu ukuthi umuntu one-Peutz-Jeghers Syndrome (PJS) asebenzisane eduze nodokotela wakhe ukuze aqaphe isimo sakhe.. Ukuya kudokotela njalo kungaba yinto ekhathazayo futhi ekhathazayo ngezinye izikhathi. Kodwa kubalulekile ukuhlala uqaphile impilo yakho. Ukutholwa kusenesikhathi kwenkinga efana nomdlavuza kungasiza kakhulu ekukusizeni uphile impilo enempilo nende. Khuluma nodokotela wakho ngokuthi ukuxilongwa kwakho kuzothinta kanjani indlela yakho yokuphila kanye nempilo yesikhathi eside.

Izinto okufanele sizikhumbule kule ndaba (Umyalezo Ohamba Nawo Ekhaya)

Kulungile, ake sifingqe ezinye zezinto ezibaluleke kakhulu okufanele uzikhumbule nge-Peutz-Jeghers Syndrome (PJS) esikhulume ngazo:

• I-PJS yisimo sofuzo esibangela ukwakheka kwamathumba emzimbeni, amabala esikhumbeni, kanye nengozi eyengeziwe yomdlavuza .
• Kubalulekile ukufuna iseluleko sezokwelapha uma unezimpawu ezifana namabala amnyama azungeze umlomo kanye nezitho zomzimba (ikakhulukazi ebuntwaneni), ubuhlungu besisu, kanye negazi esitulweni.
• Njengoba lokhu kungaba yinto ezuzwa njengefa, uma othile emndenini enayo, kungumqondo omuhle ukuthi nabanye bathole ukuhlolwa kwezakhi zofuzo kanye nokwelulekwa .
• Uma une-PJS, kubalulekile ukuthi uhlolwe njalo . Lokhu kungasiza ekutholeni umdlavuza nezinye izinkinga kusenesikhathi.
• Nakuba lesi kuyisimo sokuphila konke, ngokuqashwa okufanele kwezokwelapha kanye nokwelashwa, ungaphila impilo evamile . Ungesabi, kodwa qaphela.

Uma uneminye imibuzo mayelana nalokhu, khuluma nodokotela wakho. Bangakunikeza iseluleko esifanele wena.

I- Peutz-Jeghers Syndrome, i-PJS, isifo sofuzo, izimila zesisu, amabala esikhumba, ingozi yomdlavuza, i-STK11 gene, i-colonoscopy, i-endoscopy