Mwana wako ane mavanga madiki, matema akakomberedza miromo yake, mumuromo make, kana pamaoko ake here? Ungafunga kuti mavanga chete. Asi ungashamisika kuziva kuti mavanga aya anogona kunge aine chekuita nerudzi rwebundu rinokura mumuviri, kunyanya muura. Nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha chekuziva. Ichi chinonzi Peutz-Jeghers Syndrome, kana kuti PJS muchidimbu.
Zvichitaurwa zviri nyore, chii chinonzi Peutz-Jeghers Syndrome (PJS)?
Peutz-Jeghers Syndrome (PJS) chirwere chemajini chinokonzera kukura kudiki (polyps) mumiviri yedu uye mavara matema anoonekwa paganda redu nemumuromo medu. Chinhu chakanakisa ndechekuti kukura uku nemavanga hazvina kunaka . Asi dambudziko nderekuti vanhu vane PJS vane mukana wakakura wekuva nekenza mune ramangwana kupfuura vamwe.
Mavara aya matema (anonzi `mucocutaneous hyperpigmentation`) anowanzoonekwa muhudiki. Asi anonyangarika zvishoma nezvishoma sezvatinokura. Rudzi rwebundu randataura nezvaro (`hamartomatous polyps`) runowanzo buda mudumbu redu (`gastrointestinal tract`). Kureva kuti, munzvimbo dzakadai sedumbu diki, mudumbu, nemuura . Asi dzimwe nguva, anogonawo kukura munzvimbo dzakadai seitsvo, dundira, mapapu, nemhino. Mabundu aya anogona kukonzera matambudziko akasiyana-siyana, uye dzimwe nguva anogona kushanduka kuita kenza.
Kana uine PJS, chiremba wako anogara achiongorora kenza uye mapundu ane njodzi huru.
Chirwere ichi chakajairika zvakadii?
Ichi chirwere chisingawanzoitiki. Kunyangwe zvisingazivikanwe kuti vangani vanhu vane chirwere ichi, vaongorori vanofungidzira kuti chinobata munhu mumwe chete pavanhu 300,000 uye mumwe pavanhu 25,000 .
Ndezvipi zviratidzo zvePJS?
PJS inonyanya kukonzera mavanga matema (muhudiki) uye ma polyps (muvana nevakuru). Ngatitarisei zviratidzo izvi zvakasiyana.
| Rudzi rwechiratidzo | Zvinhu zvekuona |
|---|---|
| Nzvimbo Dzerima | Vana vane PJS vanogona kunge vaine madodzi ebhuruu-grey kana brown. Vamwe vanhu vanofunga kuti aya madodzi chete. Anowanzoonekwa pazera remakore 1-2 uye anonyangarika pazera remakore 18-19. Madodzi acho madiki, ane saizi inosvika 1 kusvika 5 millimeter. Madodzi aya anowanzoonekwa mu:
|
| Zviratidzo zvinokonzerwa nema polyps | Zviratidzo zvemapundu emudumbu zvinowanzoonekwa pakati pemakore gumi kusvika makumi matatu. Zvinosanganisira:
|
Sei PJS iyi ichikura? Chii chinokonzera?
Vanhu vazhinji vane PJS vane shanduko mujini rinonzi STK11. STK11 ijini rinoderedza bundu. Muchidimbu, basa rejini iri nderekudzora kukura kusingadzoreki kwemasero mumuviri wedu.
Funga nezvejini iri sechinobatidza chiedza. Rinodzima "chiedza" chinodzora kukura kwemasero. Kana jini iri risiri kushanda nemazvo, zvinoita sekunge chinobatidza chatyoka uye chiedza chinoramba chakabatidzwa. Sezvo pasina anomisa masero kukura, anoramba achipatsanuka uye achikura pamwe chete, achiumba bundu.
Vanhu vanosvika 80% vane PJS vanogara nhaka iyi gene mutation kubva kuna amai kana baba vavo. Vamwe 20% vanogona kunge vasina nhoroondo yemhuri yechirwere ichi, asi vanogona kutanga gene mutation ivo pachavo. Vamwe vanhu vanokura PJS pasina shanduko mu STK11 gene. Masayendisiti haasati aziva kuti nei chaizvo.
Chirwere ichi chinogarwa nhaka sei?
Kazhinji, mwana anogara nhaka jini iri rakachinjwa kubva kumubereki mumwe chete. Rinogarwa nhaka nenzira inonzi "autosomal dominant". Izvi zvinoreva kuti kunyangwe amai kana baba vakagara nhaka jini iri rakachinjwa rekuti "STK11" riripo, mwana ari panjodzi huru yekuva nezviratidzo zvePJS nematambudziko. Kana uine gene iri, mwana wako ane mukana we50% wekurigara nhaka.
Ndezvipi zvinetso zvinogona kuitika nekuda kwePJS?
Dambudziko guru kenza .Vaongorori vanoti munhu ane PJS ane mukana wekuwana kenza muhupenyu hwake hwese kusvika ku93% . Ndosaka vanachiremba vachigara vachiongorora kenza uye vachiedza kuiona nekukurumidza.
Mamwe matambudziko ndeaya:
- Kupinda mukati medumbu: Izvi zvinoitika kana ganda guru riri muura hudiki richisunda richipinda mukati uye zvichiita kuti chikamu cheura chikotame mukati. Dambudziko iri rinogona kubata vanhu vanosvika 69% vane PJS.
- Kuvharika kweura hudiki: Mamota anogona kuvhara ura hudiki. Vanhu vanosvika 50% vane PJS vanova nedambudziko guru remudumbu rinoda kuvhiyiwa vasati vasvitsa makore makumi maviri.
- Kubuda ropa kubva mudumbu: Mamota anogona kumanikidza dumbu uye kukonzera kubuda ropa.
- Kushaya iron mumuviri: Kubuda ropa nguva dzose kunokonzera kudzikira kwe iron mumuviri, zvichikonzera kushayikwa kweanemia.
Matambudziko chaiwo evakadzi nevarume
- Vakadzi: Matumbu emuzai (matumbu emudumbu) uye mhando yegomarara risingawanzoitiki uye rakakomba rinonzi adenoma malignanum, rinokura mumuromo wechibereko. Izvi zvinogona kukonzera kutenderera kwemwedzi kusina kurongeka kana kutanga kuyaruka.
- Varume: Vanogona kuita mapundu mumachende (Sertoli-cell tumors). Izvi zvinogona kukonzera kukura kwemazamu (gynecomastia), kutanga kuyaruka, uye mapfupa avo anogona kukura nekukurumidza kupfuura zvakajairika, zvichizopedzisira zvaita kuti vave vapfupi.
Njodzi yePJS nekenza
PJS inowedzera zvakanyanya njodzi yekubatwa nekenza yemudumbu nedzimwe nhengo dzemuviri. Avhareji yezera iro murwere wePJS anowanikwa aine kenza imakore angangoita makumi mana nemaviri.
| Rudzi rwegomarara | Huwandu hwevarwere vePJS |
|---|---|
| Kenza yemudumbu | Kusvika ku40% |
| Kenza yemazamu | 30% - 50% |
| Kenza yepancreatic | 11% - 36% |
| Kenza yemudumbu | Kusvika ku30% |
| Kenza yemudumbu | 20% |
| Kenza yemapapu | 15% |
| Kenza yemudumbu mudiki | Kusvika 13% |
PJS inoonekwa sei?
Vanhu vazhinji vanoonekwa vaine chirwere chePJS mushure mekuona chiremba nekuda kwezviratidzo zvakaita sekuvharika kwemudumbu kana kuti intussusception. Avhareji yezera rekuonekwa kwechirwere ichi imakore angangoita makumi maviri nematatu. Kuti vaongorore chirwere ichi, vanachiremba vanotsvaga zvinotevera:
- Pane mumwe munhu mumhuri ane chirwere chePJS here?
- Mavara matema paganda.
- Kana paine ma polyps mudumbu.
Pamusoro pezvo, bvunzo yemajini inogona kuitwa kuti uone kana uine `STK11` gene mutation.
Miedzo yekuongorora chirwere ichi
Chiremba wako anogona kukurudzira bvunzo dzakasiyana-siyana dzekuongorora bundu riri muura hwako. Dzimwe dzacho dzinosanganisira:
- Colonoscopy: Kuongorora ura hukuru uchishandisa chubhu ine kamera.
- Endoscopy yepamusoro: Kuongororwa kwegurokuro, dumbu, uye chikamu chepamusoro cheura hudiki.
- Kapisiyumu endoscopy: Kumedza kapisiyumu ine kamera diki mukati. Kapisiyumu iyi inotora mifananidzo painofamba ichidzika nemudumbu.
Unogonawo kutora ropa kuti uone kana uine anemia nekuda kwekushomeka kwesimbi mumuviri.
Ndezvipi zvirongwa zvekurapa PJS?
PJS haigone kurapwa zvizere, saka chinangwa chikuru chekurapa ndechekutarisa njodzi yekenza uye kudzivirira matambudziko anokonzerwa nebundu racho.
Vanachiremba vanogona kubvisa bundu muura hukuru panguva yekuongororwa kwecolonoscopy. Vanogonawo kubvisa bundu mudumbu nechikamu chepamusoro cheura diki kana zvichidikanwa. Dzimwe nguva, nzira dzakakosha dzakadai se balloon-assisted enteroscopy dzinoshandiswa kubvisa bundu riri muura diki.
Mune zvimwe zviitiko, kuvhiyiwa kungave kwakakosha kubvisa cyst.
Ndezvipi zviedzo zvandinofanira kuita nguva dzose?
Kana uine chirwere chePJS, uchafanirwa kuongororwa nguva nenguva muhupenyu hwako hwese kuti uone kenza nezvimwe zvinetso nekukurumidza. Izvi zvingaita sekunge zvinonetsa, asi zvakakosha kuchengetedza hupenyu hwako.
| Rudzi rwekuyedza | Nguva yekuzviita |
|---|---|
| Miedzo yakajairika kune vese | |
| Kuongororwa kweura hudiki (CT/MRI enterography kana video capsule endoscopy) | Kutanga pazera remakore 8-10, uye makore maviri-3 ega ega kana paine bundu. |
| Endoscopy yepamusoro | Kutanga pazera remakore gumi nemaviri, gore rega rega kana paine bundu, kana makore maviri kusvika matatu ega ega. |
| Kuongororwa kwepancreatic (MRCP kana Endoscopic ultrasound) | Kutanga pazera remakore 25-30, kamwe chete pagore rimwe chete kana maviri. |
| Miedzo yakasarudzika yevakadzi | |
| Kuongororwa kwezamu | Kubva pazera remakore makumi maviri nemashanu, enda kuna chiremba kaviri pagore uye ongororwa mazamu uye MRI yemazamu gore rega rega. |
| Kuongororwa kwevakadzi | Kuongororwa kwepelvic uye Pap smear gore rega rega kubva pamakore 18-20. |
| Miedzo chaiyo yevarume | |
| Kuongororwa kwematumbu | Kuongororwa nachiremba kwegore negore kubva pazera remakore gumi. |
Chirwere ichi chinogona kudzivirirwa here?
Sezvo PJS ichiwanzova chirwere chenhaka chinogarwa nhaka, hapana chatingaita kuti chisakure.
Asi kana uine chirwere chePJS, chinhu chakakosha chaunogona kuita kuzivisa mhuri yako nezvazvo wovatuma kunopihwa mazano ezvemajini . Zvadaro vanogona kuongororwa kuti vane chirwere ichi here kana kuti kwete uye vowana mazano avanoda kudzivirira kenza.
Kana uine PJS, mwana wako ane mukana we50% wekuibata. Asi ikozvino kune nzira dzekuderedza njodzi iyoyo. Semuenzaniso, kana uri kuita mwana kuburikidza ne in vitro fertilization (IVF), nzira inonzi preimplantation genetic diagnosis (PGD) inogona kushandiswa kutarisa gene mutation mu embryo. Aya maitiro akaoma uye anodhura, saka zvakakosha kutaura nachiremba wako nezveizvi.
Mharidzo Yekuenda Nayo Kumba
- Peutz-Jeghers Syndrome (PJS) chirwere chinowanzo berekwa nhaka.
- Izvi zvinokonzera kuti paganda pave nemavanga matema pazera diki, kunyanya kutenderedza miromo nemukati memuromo.
- Mapundu (polyps) asina kukonzera kenza anoumbwa mudumbu, izvo zvinogona kukonzera matambudziko akadai sekurwadziwa mudumbu, kubuda ropa, uye kuvharika kwemudumbu.
- Munhu ane PJS ane mukana mukuru wekuva negomarara muhupenyu hwake hwese.
- Kunyange hazvo chirwere ichi chisingarapiki, nekuongororwa nguva dzose nachiremba (kuongororwa), matambudziko nekenza zvinogona kuonekwa nekukurumidza uye hupenyu hunogona kuchengetedzwa. Zvakakosha zvikuru kugara uchitaurirana nachiremba wako.
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