Dzimwe nhengo dzemuviri dzinokura zvisina kujairika here? Ngatitaurei nezveProteus Syndrome

Wakamboona kana kunzwa nezvemunhu ane nhengo dzemuviri - ngatitii, ruoko kana gumbo - dzinokura zvakanyanya uye dzakakura zvisina kuenzana kupfuura dzimwe? Kana kuti ganda mune dzimwe nzvimbo rinoita gobvu uye rinoita semapundu asinganzwisisike? Ichi chirwere chisingawanzoitiki. Nhasi tichataura nezvechirwere chinoshamisa zvishoma, asi chakakosha kuti munhu wese azive nezvacho. Chinonzi Proteus Syndrome.

Chii chinonzi Proteus Syndrome?

Zvichitaurwa zviri nyore, Proteus Syndrome chirwere chisingawanzoitiki chemajini . Chinokonzera kuti mapfupa emuviri wako, ganda, nhengo dzemukati, kana kuti nyama zvikure zvakanyanya . Chinokosha ndechekuti kukura uku kunowanzova kusina kuenzana . Izvi zvinoreva kuti mativi emuviri ekurudyi nekuruboshwe anokanganiswa zvakasiyana. Rutivi rumwe runogona kunge rwakakura, asi rumwe rutivi runogona kunge rwakajairika.

Izvi zvinonzi "Proteus", kwaiva namwari wekare wechiGiriki ainzi "Proteus", aigona kuchinja kuita chero chimiro. Chirwere ichi chinochinjawo chimiro chemuviri, saka chakatora zita racho.

Mwana achangoberekwa haawanzo ratidza zviratidzo zvechirwere ichi. Kukura uku kusingawanzoitiki kunotanga pakati pemwedzi 6 ne18 yekuzvarwa . Kunokura nekukurumidza mumakore gumi ekutanga ehupenyu uye kunogona kuwedzera zvakanyanya sezvavanokura. Kuwedzera pakuchinja kwechitarisiko, vamwe vanhu vanogona kuva nematambudziko etsinga. Vanhu vane Proteus syndrome vanewo mukana wakawedzerwa wekugwamba kweropa uye bundu risiri rekenza .

Ndiani anogona kuwana izvi? Zvakajairika sei?

Proteus syndrome inogona kubata chero munhu, asi zvimwe zvidzidzo zvakaratidza kuti inowanikwa zvakanyanya muvarume kupfuura vakadzi.

Ichi chirwere chisingawanzoitiki . Chinobata vanhu vasingasviki mumwe chete pavanhu miriyoni pasi rose. Nekuti hachiwanzoitiki, uye nekuti kune mamwe mamiriro ezvinhu anoratidzawo kukura kusina kuenzana, zvakaoma kuchiona nemazvo. Saka, zvakaoma kutaura kuti vangani vanhu vane chirwere ichi. Vanachiremba vanotenda kuti vamwe vanhu havasati vaonekwa, uye vamwe vakaongororwa zvisizvo. Zvisinei, zvinofungidzirwa kuti vanhu vasingasviki zana pasi rose vane chirwere ichi.

Zviratidzo zvacho ndezvipi? Unozviziva sei?

Zviratidzo zvekutanga zveProteus syndrome zvinowanzoonekwa pakati pemakore matanhatu negumi nemasere . Apa ndipo panotanga kukura kusina kuenzana kwambotaurwa. Maitiro ekukura uku uye kuoma kwakwo zvinogona kusiyana zvikuru kubva pamunhu kusvika pamunhu. Zvinogona kukanganisa chero chikamu chemuviri, kusanganisira mapfupa, ganda, nhengo, uye nyama. Dambudziko iri rinokurumidza kukura mumakore gumi ekutanga ehupenyu.

### Kuchinja kwemapfupa:

Mapfupa ari mumaoko ako, makumbo, dehenya, nemusana anogona kukura zvisina kurongeka.

• Maoko nemakumbo zvinogona kukura kusvika pakureba kwakasiyana zvikuru . Fungidzira ruoko rumwe rwakareba kupfuura rumwe, kana kuti kureba kwemakumbo ako kwakasiyana.
• Kukombama kwakanyanya kwemusana (scoliosis) kunogona kuitika.
• Nekufamba kwenguva, kukura uku kusingawanzoitiki kunogona kukonzera kuti majoini asashande zvakanaka.

### Kuchinja kweganda:

Proteus syndrome inogona kukonzera kukura kusingawanzoitiki paganda.

• Mune dzimwe nzvimbo, ganda rinokora uye rinokwira, zvichiita bundu rakakombama rakafanana nepamusoro peuropi. Izvi zvinonzi cerebriform connective tissue nevus .
• Izvi zvinowanzoonekwa pasi petsoka , asi dzimwe nguva zvinogona kukura pamaoko.

Rudzi urwu rwebundu reganda rwakasiyana zvekuti harionekwe mune chero chimwe chirwere.

### Tsinga dzeropa nemafuta:

• Panogona kunge paine kukura kusingawanzoitiki kwetsinga dzeropa, dzakadai se capillaries ne veins.
• Mafuta anogona kukura zvakanyanya, zvichiita kuti mafuta akawandisa aunganidzike munzvimbo dzakadai semudumbu, maoko, nemakumbo.
• Kazhinji, bundu rine mafuta (lipomas) risingaite kenza rinogona kukura.

### Matambudziko etsinga:

Vamwe vanhu vane Proteus syndrome vanosanganawo nematambudziko netsinga.

• Kuremara kwepfungwa.
• Zvirwere zvepfari `(Kubatwa nepfari)`.
• Kurasikirwa nekuona.

### Kuchinja kwechitarisiko chechiso:

Proteus syndrome inogona kukonzera zvimwe zvinhu zvakasiyana-siyana pachiso.

• Chiso chakarebeswa.
• Makona ekunze emaziso anoita seakakotama.
• Zambuko remhino rakati sandara uye mhino dzakafara.
• Zvakafanana nekuvhura muromo wako.

Ndezvipi zvinetso zvine njodzi zvinogona kuitika nekuda kweizvi?

Dambudziko guru rinokonzerwa neProteus syndrome ideep vein thrombosis (DVT), iro rinoita kuti ropa rivhare mutsinga dzakadzika . DVT inowanzo kanganisa tsinga dzakadzika dzemakumbo kana maoko, zvichikonzera kurwadziwa nekuzvimba.

Kana `DVT` iyi ichifamba nemuropa ichienda kumapapu, inogona kukonzera chirwere chine njodzi chinonzi `Pulmonary Embolism`. Pulmonary embolism ndiyo inonyanya kukonzera rufu kuvanhu vane Proteus syndrome.

Proteus Syndrome inoitika sei? Inyaya yemajini here?

Chikonzero cheizvi kuchinja (mutation) mujini rinonzi `AKT1`.. Jini re`AKT1` rinobatsira kudzora kukura nekupatsanurwa kwemasero. Kana jini iri rikachinja, sero rinorasikirwa nekugona kwaro kudzora kukura kwaro. Izvi zvinoita kuti sero rikure nekupatsanurwa zvisina kujairika. Izvi ndizvo zvinokonzera kukura kwakanyanya kunoonekwa muProteus syndrome.

Chinhu chakakosha ndechekuti Proteus syndrome haisi chirwere chinogara nhaka. Kuchinja kwemajini uku kunoitika mushure mekusangana kwemwana ari mudumbu, kunonzi somatic mutation . Kuchinja uku kunoitika netsaona musero rimwe chete remwana ari kukura pakutanga kwekuzvitakura. Sero iri rakachinja richikura uye richipatsanuka, mamwe masero ane kuchinja uku uye mamwe haana. Izvi zvinonzi mosaic gene change . Zvakafanana nemufananidzo wakagadzirwa nezvidimbu zvemavara akasiyana. Sezvo `AKT1` gene mutation ichingokanganisa mamwe masero mumuviri, chirwere ichi chinongokanganisawo chikamu chemuviri chete.

Vanachiremba vanoongorora sei izvi?

Chiremba wako achaita bvunzo yemuviri kuti aone Proteus syndrome. Vachashandisawo runyorwa rwezviratidzo zvakanangana nechirwere ichi. Kuti chiremba afunge nezvechirwere ichi, zviratidzo zvitatu zvakajairika zvinofanira kunge zviripo. Zvinoti:

• Kugoverwa kweMosaic : Izvi zvinoreva kuti mabukira anopararira munzvimbo yakakura yemuviri. Dzimwe nhengo dzemuviri dzine mabukira, nepo dzimwe dzisina.
• Kuitika kwechirwere ichi nguva nenguva : Izvi zvinoreva kuti hapana mumwe munhu mumhuri mako ane zviratidzo izvi.
• Nzira yekufambira mberi : Izvi zvinoreva kuti nekufamba kwenguva, chitarisiko chezvikamu zvemuviri zvakakanganiswa chakachinja zvakanyanya nekuda kwekukura kwakanyanya uku.

Pamusoro peizvi, chiremba wako achatsvaga zvimwe zviratidzo chaizvo. Kuti uongororwe kuti une Proteus syndrome, unofanira kunge uine zviratidzo zvakananga kubva muchikamu chimwe nechimwe chiri pane checklist yachiremba.

### Ndedzipi mhando dzebvunzo dzinoitwa?

Kuchinja kwemajini kunokonzera Proteus syndrome hakupo musero rega rega mumuviri. Saka, kuongororwa kwemajini kunogona kuoma zvishoma. Izvi zvinodaro nekuti kuchinja uku kunogona kunge kusiripo muropa, kana kuti kunogona kunge kuripo muhuwandu hushoma.

Zvisinei, vanachiremba vanogona kuona jini iri rakachinja nekutora sampuli diki yenyama yako yakakanganiswa (biopsy) voiedza (DNA testing) . DNA kubva mumuenzaniso iwoyo inoshandiswa kuona jini rakachinja.

Pane mushonga weizvi here? Zvinogona kurapwa here?

Zvinosuwisa kuti hapana mushonga weProteus syndrome . Kurapa kwakanangana nekutarisa zviratidzo zvako. Uchafanira kushanda nechikwata chenyanzvi kuti vakubatsire nezvinodiwa zvako zvehutano.

• Chiremba wemapfupaInorapa matambudziko emapfupa ako. Kune nzira dzakasiyana-siyana dzekuderedza kukura kwemapfupa mumaoko, tsoka, neminwe. Dzinogonawo kugadzirisa matambudziko emusana nemapfundo. Usati wavhiyiwa chero kupi zvako, uchaongororwa nachiremba weropa kuti aongorore njodzi yako yekugwamba kweropa.
• Ungangoda kuona chiremba weganda kana paine sebum yakawandisa uye shanduko dzeganda. Mamwe matambudziko angangoda kurapwa nekukasika uye nguva nenguva. Kune mamwe matambudziko, chiremba wako anogona kutora nzira yekuti "mira uone". Kureva kuti, vachatarisa mamiriro ako vasati vakurudzira chero kurapwa kwakananga.

Vamwe vanopa rubatsiro rwehutano vanogona kunge varipo mukutarisirwa kwako vanosanganisira:

• Nyanzvi mune zvekurapa zvekugadzirisa (Physiatrist)
• Chiremba ane hunyanzvi muzvirwere zvekufema (Pulmonologist)
• Murapi wemuviri
• Murapi wepabasa
• Munhu anogadzira shangu dzakasarudzika uye zvinotsigira tsoka (Pedorthist)

Masayendisiti achangobva kuwana jini rinokonzera Proteus syndrome, iro rinogona kutungamira mukufambira mberi kukuru mukugadzirwa kwemishonga mitsva nedzimwe nzira dzekurapa.

Pane nzira yekudzivirira izvi here?

Kwete, Proteus syndrome haigone kudzivirirwa. Izvi zvinokonzerwa nekuti chirwere chemajini. Kuchinja kwemajini kunokonzera chirwere ichi chiitiko chisingatarisirwi panguva yekukura kwemwana ari mudumbu. Hazvikonzerwi nechinhu chero chipi zvacho chakaitika mwana asati azvarwa kana kuti panguva yekuzvitakura. Saka usazvidya mwoyo nazvo.

Ko tarisiro yekurarama yakaita sei?

Nguva yekurarama kwemunhu ane Proteus syndrome inoenderana zvakanyanya nenhengo dzemuviri dzakabatwa uye kuoma kwechirwere ichi. Matambudziko anogona kutyisidzira hupenyu , uye anogona kukonzera rufu kupfuura chirwere chacho pachacho. Matambudziko aya anogona kusanganisira deep vein thrombosis (DVT), pulmonary embolism, uye kenza. Pulmonary embolism ndiyo inonyanya kukonzera rufu kuvanhu vane Proteus syndrome.

Kazhinji, vanhu vanosvika 25% vane Proteus syndrome vanofa vasati vasvitsa makore 22. Zvisinei, avo vane zviratidzo zvishoma vanowanzova netariro yakanaka yekurarama kana kurapwa kuchishanda.

Ungararama sei neProteus Syndrome?

Kurarama nekuchinja kwemuviri kunokonzerwa neProteus syndrome kunogona kunetsa zvikuru uye kwakaoma. Zvakakosha kuti iwe nemhuri yako mudzidze zvakawanda sezvinobvira nezvechirwere ichi.Kutaura nevamwe vanhu vari kubata nechirwere ichi uye kuteerera zvavakasangana nazvo kunogona kukubatsira kunzwa sekuti hausi wega uye kuti kune vanhu vanokunzwisisa. Bvunza chiremba wako nezvezvinhu zvinogona kukubatsira kugadzirisa uye kugadzirisa dambudziko rako.

Kuwana kuti iwe kana mwana wako mune chirwere chemajini chisingawanzoitiki kunogona kuva chiitiko chinotyisa uye chinoshungurudza. Zvinogona kuoma zvikuru kana chirwere ichi chikakonzera shanduko huru mumuviri. Saka, zvakakosha kuwana chiremba anogona kunyatsoongorora Proteus syndrome uye kuunganidza timu yenyanzvi. Nekurapwa kwakakodzera, vanhu vazhinji vane tarisiro yakanaka yekurarama. Zvakakoshawo kuwana boka revanhu vanogona kukutsigira paunenge uchitarisana nechirwere ichi chakaoma.

Yeuka chinhu chinonyanya kukosha (Mharidzo Yekuenda Kumba)

• Proteus syndrome chirwere chisingawanzoitiki chinoratidzwa nekukura kwakanyanya kwemamwe nhengo dzemuviri.
• Izvi hazvikonzerwi nenhaka . Zvinokonzerwa nekuchinja kwemajini kunoitika panguva yekukura kwemwana.
• Zviratidzo zvinogona kusiyana zvikuru kubva pamunhu kusvika pamunhu.
• Kunyange hazvo pasina mushonga wakakwana , kune nzira dzakasiyana dzekurapa zviratidzo.
• Zvakakosha zvikuru kutsvaga rutsigiro rwechikwata chevanachiremba vane hunyanzvi uye kuziva zvakawanda nezvechirwere ichi.
• Zvakakosha kuziva matambudziko akadai se deep vein thrombosis (DVT) uye pulmonary embolism (Pulmonary Embolism) kudzivirira hupenyu.
• Kana iwe kana mumwe munhu waunoda ari kutambura nechirwere ichi, musakanganwa simba rinobva mukutsigira kwepfungwa nemapoka ekutsigirana .

Ndinovimba ruzivo urwu ruchakubatsira. Kana uine zvinokunetsa, ndapota usakanganwa kutsvaga mazano echiremba.

Proteus Syndrome, Zvirwere zveMajini, Kukura Kusina Kunaka, AKT1 Gene, DVT, Pulmonary Embolism, Zvirwere zveGanda, Kukura kweMapfupa, Zvirwere Zvisingawanzoitiki