Uri kuwana mavanga madiki pamuviri wako nemapundu mudumbu here? Ngatidzidzei nezvePeutz-Jeghers Syndrome (PJS)!

Dzimwe nguva zvinhu zvinogona kuitika kumiviri yedu zvatisingatarisiri, handiti? Fungidzira kuti iwe kana mwana wako mune mavanga madiki, matema paganda renyu, kunyanya kutenderedza muromo, uye muinewo matambudziko emudumbu. Zvinhu izvi zvingasava nyore sezvamunofunga. Nhasi tichataura nezvechirwere chinoratidza zviratidzo zvakafanana, izvo zvisingawanzoitiki, asi zvakakosha kuziva nezvazvo. Ndiyo Peutz-Jeghers Syndrome (PJS).

Chii chinonzi Peutz-Jeghers Syndrome (PJS)? Ngatizvinzwisise zviri nyore!

Zvichitaurwa zviri nyore, Peutz-Jeghers Syndrome (PJS) chirwere chinokonzera kukura kudiki (polyps) mumuviri wako, pamwe nemavanga matema pachiso chako, mumaoko, uye pasi petsoka dzako. Mavanga aya ese haasi ekenza, zvichireva kuti haana njodzi . Zvisinei, kuva nePJS kunowedzera zvakanyanya njodzi yako yekubatwa nekenza.

Mavara aya matema (anonzi ``mucocutaneous hyperpigmentation'') anoonekwa muvana vadiki vane PJS, asi anonyangarika zvishoma nezvishoma nekufamba kwenguva. Rudzi rwemapundu andataura (anonzi ``hamartomatous polyps'') anowanzo buda mudumbu rako (``(GI tract)''). Anowanzo onekwa mudumbu rako diki, mudumbu, nemudumbu guru (``(colon)''). Zvisinei, anogonawo kubuda kunze kwedumbu, senge muitsvo dzako, dundira, mapapu, nemumhino. Mapundu aya anogona kuita kenza uye kukonzera matambudziko akasiyana-siyana anoda kurapwa.

Kana uine PJS, chiremba wako anogara achiongorora kenza uye mapundu ane njodzi huru.

Chirwere ichi chePJS chakajairika zvakadii?

Zvakaoma kutaura kuti chirwere chePeutz-Jeghers Syndrome (PJS) chakajairika zvakadii, nekuti vaongorori havasati vava nenhamba chaiyo parizvino. Asi vanofunga kuti chinogona kukanganisa munhu mumwe chete pavanhu 300,000 kusvika munhu mumwe pavanhu 25,000. Saka, hongu, chirwere chisingawanzoitiki .

Ndezvipi zviratidzo zvePJS? Unozviziva sei?

PJS inonyanya kukonzera mavanga matema (aya anoonekwa muvana vadiki) uye anonzi ``hamartomatous polyps'' (aya anogona kuonekwa muvana vadiki nevakuru).

Nzvimbo dzakasviba:

Vana vadiki vane Peutz-Jeghers Syndrome vanokura mavara ebhuruu-grey kana brown. Dzimwe nguva aya anotorwa semavanga. Mavanga aya anowanzotanga kuoneka mwana ava nemakore 1-2 okuberekwa uye anonyangarika zvishoma nezvishoma pavanosvika makore ekuyaruka. Mavanga aya anogona kusiyana nehukuru kubva pa1 mm (inenge saizi yemuromo wepenzura yakarodzwa) kusvika pa5 mm (inenge saizi yepenzura inoraswa). Anogona kuonekwa pamativi akasiyana-siyana emuviri:

• Pamiromo kana kuti pedyo nayo (iyi ndiyo inonyanya kuwanikwa)
• Mukati memuromo
• Mhino
• Maziso akatenderedza
• Zvigunwe
• Bata
• Mazasi
• Kutenderedza huro

Zviratidzo zvinokonzerwa nemamota ari mudumbu:

Zvimwe zviratidzo zvine chekuita nekukura (polyps) mudumbu (kunyanya muura kana mudumbu), kana matambudziko anokonzerwa nekukura ikoko. Zviratidzo izvi zvinowanzoonekwa kana uri pakati pemakore gumi nemakumi matatu. Zviratidzo zvinogona kukonzerwa nekukura uku zvinosanganisira:

• Kurwadziwa kwemudumbu (`(Kurwadziwa kwemudumbu)`)
• Kusvotwa nekurutsa (`(Kusvotwa nekurutsa)`)
• Kubuda ropa mudumbu (`(Kubuda ropa mudumbu)`)
• Ropa riri mutsvina yako (`(Ropa riri mutsvina yako)`)
• Anemia (huwandu hwesimbi mumuviri hunogona kudzikira nekuda kwekubuda ropa kakawanda)

Chii chinokonzera PJS?

Vanhu vazhinji vane Peutz-Jeghers Syndrome vane shanduko (kana shanduko) mune imwe kopi yejini inonzi ``STK11''. ``STK11'' iyi ijini rinodzivirira bundu. Nemamwe mashoko, jini iri rakaita seswichi inodzora kukura kwemasero. Kana jini iri risiri kushanda nemazvo, rakaita sechiedza chinogara chakabatidzwa uye chisina anochidzima. Masero anoramba achipatsanuka nekukura, achibatana kuti aumbe bundu.

Vanhu vanosvika 80% vane PJS vakagara nhaka yekuchinja kwemajini kubva kuvabereki vavo, zvichireva kuti vanoigara nhaka kubva kuna amai kana baba vavo. Vamwe 20% vane kuchinja uku, asi hapana mumhuri mavo akambova nechirwere ichi, kana kuti vamwe vanhu havana kuchinja uku zvachose. Vanhu vane kuchinja kwemajini `(STK11)` vasina nhoroondo yemhuri vanogona kunge vakambova nekuchinja uku pane imwe nguva muhupenyu hwavo. Zvisinei, masayendisiti haasati anyatsonzwisisa kuti PJS inokura sei pasina kuchinja kwemajini `(STK11)`.

PJS inobva sei mudzinza?

Kazhinji, mwana anogara nhaka jini rePJS kubva kumubereki ane gene mutation. Mutation inokonzera PJS inogara nhaka mu autosomal dominant pattern.

Zvinoitika seizvi: Vabereki vese vanopa kopi imwe chete yejini `(STK11)` kumwana wavo. Kana uri panjodzi yakakura yekuva nezviratidzo zvePJS nematambudziko, unofanira kunge wakagara nhaka jini iri rakachinja kubva kumubereki mumwe chete.

Kana uine gene mutation iyi, pane mukana we50% wekuti mwana wako achava nayowo.

Ndezvipi zvinetso zvinogona kuitika nekuda kwePJS?

Dambudziko guru reizvi igomarara . Vaongorori vanoti kana uine chirwere chePJS, njodzi yako yekuva negomarara muhupenyu hwako hwese inogona kusvika pa93%. Ndosaka chiremba wako achizokuongorora kenza nguva nenguva. Nenzira iyi, inogona kuonekwa nekukurumidza uye kurapwa.

Mamwe matambudziko ndeaya:

• Kupinda kweura hudiki : Apa ndipo apo chikamu cheura hwako hudiki chinopetwa mukati, sesokisi rinopinda mukati. Izvi zvinoitika kana bundu guru (polyp) richiedza kufamba nemuura. Chirwere ichi chinogona kubata vanhu vanosvika 69% vane PJS.
• Kuvharika kwematumbu madiki (`(Kuvharika kwematumbu madiki)`): Bundu iroro rinogona kuvhara ura hwako hudiki. Vanhu vanosvika 50% vane PJS vachava nedambudziko remudumbu rinoda kuvhiyiwa vasati vasvitsa makore makumi maviri.
• Kubuda ropa mudumbu : Mamota anogona kumanikidza nhengo dzemudumbu, zvichikonzera kubuda ropa.
• Kushaya iron mumuviri: Kubuda ropa nguva dzose kunogona kukonzera kudzikira kwehuwandu hweiron mumuviri, zvichikonzera kushayiwa iron mumuviri.

Muvakadzi, mhando yegomarara remuzai rinonzi "sex-cord tumors" uye mhando isingawanzoitiki yegomarara remuzai inonzi "adenoma malignanum" inogona kukura. Magomarara aya anogona kukonzera kutenderera kwemwedzi zvisina kurongeka uye kutanga kuyaruka.

Varume vanogona kuita bundu remhando ye sex-cord neSertoli-cell mumachende avo. Izvi zvinogona kukonzera kuti vakure mazamu (gynecomastia), vatange kuyaruka, uye mapfupa avo anogona kukura nekukurumidza kupfuura zvakajairika (zera remapfupa rakakwira), uye vanogona kunge vapfupi pane zvakajairika.

Ndeipi njodzi yekenza inobatanidzwa nePJS?

Peutz-Jeghers Syndrome (PJS) inowedzera njodzi yako yekubatwa nekenza yemudumbu nedzimwe nhengo dzemuviri. Kana munhu ane PJS akabatwa nekenza, inowanzoonekwa pazera remakore makumi mana nemaviri. Heano marudzi ekenza akajairika muvanhu vane PJS uye huwandu hwayo:

• Kenza yemudumbu: Kusvika 40%.
• Kenza yemazamu: 30% kusvika 50%.
• Kenza yepancreatic (`(Kenza yepancreatic)`): 11% kusvika 36%.
• Kenza yemudumbu: Kusvika 30%.
• Kenza yechibereko (`(kenza yechibereko)`): 20%.
• Kenza yemapapu (`(Kenza yemapapu)`): 15%.
• Kenza yemudumbu mudiki (`(Kenza yemudumbu mudiki)`): Kusvika 13%.
• Kenza yemuromo wechibereko (`(Kenza yemuromo wechibereko)`): 10%.
• Kenza yechibereko: Isingasviki 10%.
• Kenza yemazamu: Isingasviki 10%.
• Kenza yemudumbu: 2%.

Usatya kana ukaona huwandu hwenjodzi idzi. Chinhu chakakosha ndechekuongororwa nenguva. Zvadaro, kana paine chimwe chinhu, chinogona kuonekwa uye kurapwa nekukurumidza.

Nzira yekuongorora PJS? (Kuongororwa)

Vanhu vazhinji vanoonekwa vaine chirwere chePJS vanoenda kuna chiremba nekuti vane zviratidzo zvekuvharika kwedumbu (kuvharika kwedumbu) kana kuti intussusception (intestinal intussusception). Avhareji yezera iro PJS inoonekwa naro imakore angangoita makumi maviri nematatu. Vanachiremba vanotsvaga zvinotevera kuti vaongorore chirwere chePJS:

• Nhoroondo yekuti pane mumwe munhu mumhuri ane chirwere chePJS here kana kuti kwete.
• Mavara matema pamuviri.
• Mapundu mudumbu.

Zvakare, vari kutarisa kana paine shanduko mujini re`(STK11)`.

Ndedzipi bvunzo dzinoitwa kuti chirwere ichi chionekwe?

Chiremba wako anogona kuita mapurojekiti akasiyana-siyana ekutora mifananidzo, kunyanya bvunzo dzinoshandisa chubhu ine kamera (scope) kutsvaga bundu riri mukati megurokuro rako. Miedzo iyi inogona kusanganisira:

• Colonoscopy : Iyi inoongorora ura hwako hukuru.
• Endoscopy yepamusoro : Iyi inoongorora gumbo rako, dumbu, uye chikamu chepamusoro cheura diki.
• `(Capsule endoscopy)` : Muizvi, unomedza kapusule ine kamera diki. Inotora mifananidzo painopfuura nemudumbu mako.

Unogona zvakare kutora ropa kuti uone kana une anemia yekushomeka kwesimbi mumuviri. Unogona zvakare kuita bvunzo dzemajini paropa rako kuti uone kana uine STK11 gene mutation.

Peutz-Jeghers Syndrome (PJS) inorapwa sei?

Vanachiremba vako vachanyanya kutarisa nhengo dzemuviri wako, zvichireva kuongorora kenza kana zvimwe zvinetso zvinokonzerwa nemamota.

Colonoscopy inogona kubvisa bundu muura hukuru. Kana zvichidikanwa, bundu riri mudumbu nepamusoro peura diki (duodenum) rinogonawo kutorwa biopsy uye kubviswa. Dzimwe nguva, bvunzo inonzi balloon-assisted enteroscopy inogona kushandiswa kuona nekubvisa bundu rakadzika muura diki.

Dzimwe nguva, kuvhiyiwa kunogona kudiwa kuti bundu ribviswe. Vanachiremba vanogona kubvisa bundu rimwe nerimwe, vasingabvise zvikamu zveura.

Ndedzipi mhando dzekuongorora dzandichafanira kuita?

Ichi ndicho chinhu chinonyanya kukosha. Kana uine PJS, uchafanirwa kuongororwa zvakasiyana-siyana nguva nenguva. Kunyangwe izvi zvingaita sekunge zvinonetsa, zvakakosha kuchengetedza hutano hwako.

Purogiramu yekuongorora yakajairika ndeiyi inotevera:

• `(CT/MRI enterography)` kana `(video capsule endoscopy)` :
• Zvinofanira kutanga pazera remakore 8-10. Kana paine bundu, dzokorora makore maviri kusvika matatu ega ega.
• Kana pasina bundu, mirira kusvika wava nemakore gumi nemasere wotangazve kuyedza, wobva wazviita makore maviri kusvika matatu ega ega.
• Kana zvanonoka, unofanira kutanga wava nemakore gumi nemaviri. Kana uine michero, ita gore rega rega, kana makore maviri kusvika matatu ega ega.
• `(Endoscopy yepamusoro)` :
• Unofanira kutanga wava nemakore gumi nemaviri. Kana uine nzungu, zviite gore rega rega, kana makore maviri kusvika matatu ega ega.
• `(Magnetic resonance cholangiopancreatography (MRCP))` kana `(endoscopic ultrasound)` :
• Kutanga pazera remakore 25-30, zvinofanira kuitwa gore rega rega 1-2.

Miedzo chaiyo yevakadzi:

• Kubva pazera remakore makumi maviri nemashanu, ongororwa mazamu nachiremba kaviri pagore.
• Kutanga pazera remakore makumi maviri nemashanu, tora mammogram uye MRI yezamu gore rega rega.
• Kubva pamakore gumi nemasere kusvika makumi maviri, ongorora chiuno uye ongorora Pap smears gore rega rega.
• Kubva pazera remakore 18 kusvika 20, gore rega rega `(transvaginal ultrasound)` (izvi hazvidikanwi, kana zvataurwa nachiremba).

Miedzo chaiyo yevarume:

• Kutanga pazera remakore gumi, unofanira kuongororwa machende gore rega rega. Unofanirawo kuziva nezvekuchinja kunokonzera madzimai, senge kukura kwemazamu.

Peutz-Jeghers Syndrome (PJS) inogona kudzivirirwa here?

Sezvo PJS ichiwanzova chirwere chenhaka, hapana chaunogona kuita kudzivirira kuti chisakure.

Asi pane zvinhu zvaunogona kuita. Kana uine PJS, udza vamwe vemhuri yako nezvazvo uye vakurudzire kuti vawane mazano ezvemajini. Ongororo iyi ichaongorora PJS gene mutation. Kana vaine STK11 gene mutation, vachawana mazano ekubatsira kudzivirira kenza uye kuramba vaine hutano hwakanaka.

Kana uine PJS, pane mukana we50% wekuti mwana wako achavawo nekuchinja kwemajini. Asi kune dzimwe nzira dzekuderedza njodzi iyoyo.

Semuenzaniso, kana uri kushandisa in vitro fertilization (IVF) kuti uve nemwana, ungada kuedza nzira inonzi preimplantation genetic diagnosis (PGD) isati yaiswa muchibereko. PGD inosanganisira kuyedza ma embryos akaberekeswa kuti aone kana akachinja majini.

Zvisinei, PGD inzira yakaoma uye inodhura, saka zvakanaka kukurukura izvi nenyanzvi yezvemajini usati waita chero sarudzo.

Hupenyu hwakaita sei nePeutz-Jeghers Syndrome? (Outlook)

Peutz-Jeghers Syndrome (PJS) haigone kurapwa. Idambudziko rehupenyu hwese uye rinogona kutapurirwa kuvana vako. Kana uine PJS, unofanirwa kugara uchiongororwa kuti hauna ma polyps, sezvo anogona kuita kenza kana kukonzera kuvharika kwemudumbu kunoda kuvhiyiwa.

Chii chandinofanira kubvunza chiremba wangu?

Kana uine chirwere chePJS, usakanganwa kubvunza chiremba wako mibvunzo iyi:

• Ndinofanira kuongororwa rudzii? Kangani?
• Ndezvipi zviratidzo zvandinofanira kukubata nekukurumidza kana zvikaitika?
• Rudzii rwekurapwa rwandinoda?
• Ndichava nenyanzvi dzerudzii dzandichashanda nadzo?
• Kuva nePJS kuchakanganisa sei zvirongwa zvangu zvekubereka?

Zvakakosha zvikuru kuti munhu ane Peutz-Jeghers Syndrome (PJS) ashande pamwe chete nachiremba wake kuti vaongorore mamiriro ake ezvinhu.Kuenda kuna chiremba nguva dzose kunogona kunetsa uye kuneta dzimwe nguva. Asi zvakakosha kuti urambe uchitarisira hutano hwako. Kuziva chirwere chegomarara nekukurumidza kunogona kukubatsira kuti urarame hupenyu hune hutano uye hwakareba. Taura nachiremba wako nezvekuti kuongororwa kwako kuchakanganisa sei mararamiro ako uye hutano hwako hwenguva refu.

Zvinhu zvatinofanira kurangarira kubva munyaya iyi (Mharidzo Yekuenda Kumba)

Zvakanaka, ngatipfupisei zvimwe zvezvinhu zvakakosha zvekurangarira nezvePeutz-Jeghers Syndrome (PJS) zvatataura nezvazvo:

• PJS chirwere chemajini chinokonzera bundu mumuviri, mavara paganda, uye njodzi yakakura yekenza .
• Zvakakosha kutsvaga rubatsiro rwechiremba kana uine zviratidzo zvakaita semavanga matema akakomberedza muromo nemakumbo (kunyanya muhudiki), kurwadziwa mudumbu, uye ropa mutsvina.
• Sezvo izvi zvichigona kugarwa nhaka, kana mumwe munhu mumhuri aine chirwere ichi, zvakanaka kuti vamwe vaongororwe majini uye vapihwe mazano .
• Kana uine chirwere chePJS, zvakakosha kuti uongororwe nguva nenguva . Izvi zvinogona kubatsira kuona kenza nezvimwe zvinetso nekukurumidza.
• Kunyangwe ichi chiri chirwere chehupenyu hwese, kana ukapihwa rubatsiro rwechiremba uye uchirapwa, unogona kurarama hupenyu hwakajairika . Usatya, asi chenjerera.

Kana muine mimwe mibvunzo nezvenyaya iyi, taurai nachiremba wenyu. Vanogona kukupai mazano akakunakirai.

Peutz -Jeghers Syndrome, PJS, chirwere chemajini, bundu remudumbu, mavara eganda, njodzi yekenza, STK11 gene, colonoscopy, endoscopy